KEGG   Homo sapiens (human): 1742
Entry
1742              CDS       T01001                                 
Symbol
DLG4, MRD62, PSD95, SAP-90, SAP90
Name
(RefSeq) discs large MAGUK scaffold protein 4
  KO
K11828  discs large protein 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04390  Hippo signaling pathway
hsa04724  Glutamatergic synapse
hsa05016  Huntington disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05030  Cocaine addiction
Network
nt06461  Huntington disease
nt06466  Pathways of neurodegeneration
nt06544  Neuroactive ligand signaling
  Element
N00987  Mutation-caused aberrant Htt to transport of calcium
N01880  GRM1/5-interacting scaffold proteins
Disease
H00773  Autosomal dominant intellectual developmental disorder
Drug target
Nerinetide (DG03092): D11729 D11730 D11731
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04390 Hippo signaling pathway
    1742 (DLG4)
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    1742 (DLG4)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05016 Huntington disease
    1742 (DLG4)
   05022 Pathways of neurodegeneration - multiple diseases
    1742 (DLG4)
  09165 Substance dependence
   05030 Cocaine addiction
    1742 (DLG4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    1742 (DLG4)
Membrane trafficking [BR:hsa04131]
 SNARE
  SNARE associated proteins
   Others
    1742 (DLG4)
 Endocytosis
  Clathrin-mediated endocytosis
   LDLR adaptor proteins
    1742 (DLG4)
SSDB
Motif
Pfam: Guanylate_kin PDZ PDZ_assoc PDZ_6 PDZ_2 MAGUK_N_PEST SH3_1 DUF6288 SH3_9
Other DBs
NCBI-GeneID: 1742
NCBI-ProteinID: NP_001308004
OMIM: 602887
HGNC: 2903
Ensembl: ENSG00000132535
UniProt: P78352
Structure
LinkDB
Position
17:complement(7187187..7220050)
AA seq 724 aa
MDCLCIVTTKKYRYQDEDTPPLEHSPAHLPNQANSPPVIVNTDTLEAPGYELQVNGTEGE
MEYEEITLERGNSGLGFSIAGGTDNPHIGDDPSIFITKIIPGGAAAQDGRLRVNDSILFV
NEVDVREVTHSAAVEALKEAGSIVRLYVMRRKPPAEKVMEIKLIKGPKGLGFSIAGGVGN
QHIPGDNSIYVTKIIEGGAAHKDGRLQIGDKILAVNSVGLEDVMHEDAVAALKNTYDVVY
LKVAKPSNAYLSDSYAPPDITTSYSQHLDNEISHSSYLGTDYPTAMTPTSPRRYSPVAKD
LLGEEDIPREPRRIVIHRGSTGLGFNIVGGEDGEGIFISFILAGGPADLSGELRKGDQIL
SVNGVDLRNASHEQAAIALKNAGQTVTIIAQYKPEEYSRFEAKIHDLREQLMNSSLGSGT
ASLRSNPKRGFYIRALFDYDKTKDCGFLSQALSFRFGDVLHVIDASDEEWWQARRVHSDS
ETDDIGFIPSKRRVERREWSRLKAKDWGSSSGSQGREDSVLSYETVTQMEVHYARPIIIL
GPTKDRANDDLLSEFPDKFGSCVPHTTRPKREYEIDGRDYHFVSSREKMEKDIQAHKFIE
AGQYNSHLYGTSVQSVREVAEQGKHCILDVSANAVRRLQAAHLHPIAIFIRPRSLENVLE
INKRITEEQARKAFDRATKLEQEFTECFSAIVEGDSFEEIYHKVKRVIEDLSGPYIWVPA
RERL
NT seq 2175 nt   +upstreamnt  +downstreamnt
atggactgtctctgtatagtgacaaccaagaaataccgctaccaagatgaagacacgccc
cctctggagcacagcccggcccacctccccaaccaggccaattctcccccagtgattgtc
aacacagataccctagaagccccaggatatgagttgcaggtgaacgggaccgagggggag
atggaatacgaggaaatcacattggaaaggggtaactcaggtctgggcttcagcatcgca
ggtggcactgacaacccacacatcggtgacgacccatccattttcatcaccaagatcatt
cctggtggggctgcggcccaggatggccgcctcagggtcaacgacagcatcctgtttgta
aatgaagtggacgtgcgcgaggtgacccactcagcggcggtggaagccctcaaagaggca
ggctccatcgttcgcctctatgtcatgcgccggaagcccccggctgagaaggtcatggag
atcaagctcatcaaggggcctaaaggtcttggcttcagcatcgcagggggcgtagggaac
cagcacatcccaggagataatagcatctatgtaacaaagatcatcgaagggggtgctgcc
cacaaggatgggaggttgcagattggagacaagatcctggcggtcaacagtgtggggcta
gaggacgtcatgcatgaagatgctgtggcagccctgaagaacacgtatgatgttgtctac
ctaaaggtggccaagcccagcaatgcctacctgagtgacagctatgctcccccagacatc
acaacctcttattcccagcacctggacaatgagatcagtcacagcagctacctgggcacc
gactaccccacagccatgacccccacttcccctcggcgctactctccagtggccaaggac
ctgctcggggaggaagacattccccgagaaccgaggcgaattgtgatccaccggggctcc
acgggcctgggcttcaacatcgtgggtggcgaggacggtgaaggcatcttcatctccttt
atcctggccgggggccctgcagacctcagtggggagctgcggaagggggaccagatcctg
tcggtcaacggtgtggacctccgaaatgccagccatgagcaggctgccattgccctgaag
aatgcgggtcagacggtcacgatcatcgctcagtataaaccagaagagtacagccgattc
gaggccaagatccacgaccttcgggaacagctcatgaacagcagcctgggctcagggact
gcgtccctgcggagcaaccccaaaaggggtttctacatcagggccctgtttgattacgac
aagaccaaggactgcggcttcctgagccaggccctgagcttccgctttggggatgtgctg
catgtcatcgatgctagtgatgaggagtggtggcaggcacggcgggtccactctgacagt
gagaccgacgacattgggttcatccccagcaaacggcgggttgagcgacgagagtggtca
aggttaaaggccaaggactggggctccagctctggatcgcagggtcgagaagactcggtt
ctgagctacgagacagtgacgcagatggaagtgcactatgctcgccccatcatcatcctt
gggcccaccaaggaccgcgccaacgatgatcttctctccgagttccccgacaagtttgga
tcctgtgttccccatacgacacggcccaagcgggagtatgagatagatggccgggattac
cactttgtgtcgtcccgggagaaaatggagaaggacattcaggcgcacaagttcattgag
gccggccagtacaacagccacctctatgggaccagcgtccagtccgtgcgagaggtggca
gagcaggggaagcactgcatcctcgatgtctcggccaatgccgtgcggcggctgcaggcg
gcccacctgcaccccatcgccatcttcatccgcccccgctccctggagaatgtgctagag
attaacaagcggatcacagaggagcaagcccgcaaagccttcgacagagccaccaagctg
gagcaggagttcacagagtgcttctcagccatcgtggagggtgacagctttgaggagatc
taccacaaggtgaagcgtgtcatcgaggacctctcaggcccctacatctgggttccagcc
cgagagagactctga

KEGG   Homo sapiens (human): 9229
Entry
9229              CDS       T01001                                 
Symbol
DLGAP1, DAP-1, DAP-1-ALPHA, DAP-1-BETA, DAP1, DLGAP1A, DLGAP1B, GKAP, SAPAP1
Name
(RefSeq) DLG associated protein 1
  KO
K15008  discs, large-associated protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04724  Glutamatergic synapse
Network
nt06544  Neuroactive ligand signaling
  Element
N01880  GRM1/5-interacting scaffold proteins
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    9229 (DLGAP1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    9229 (DLGAP1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Other centrosome associated proteins
    9229 (DLGAP1)
SSDB
Motif
Pfam: GKAP
Other DBs
NCBI-GeneID: 9229
NCBI-ProteinID: NP_001385456
OMIM: 605445
HGNC: 2905
Ensembl: ENSG00000170579
UniProt: O14490
Structure
LinkDB
Position
18:complement(3496032..4455307)
AA seq 977 aa
MKGLSGSRSHHHGVTCDSACDSLSHHSDRKPYLLSPVEHHPADHPYYTQRNSFQAECVGP
FSDPLASSTFPRRHYTSQQELKDECALVPRTLATKANRIPANLLDQFERQLPLSRDGYHT
LQYKRTAVEHRSDSPGRIRHLVHSVQKLFTKSHSLEGPSKGSVNGGKASPDEAQAARYGK
RSKSKERRAEPKARPSTSPGWWSSDDNLDGDMCIYHAPSGVMTMGRCPDRSASQYFLEAY
NTISEQAVKASRSNNDVKCSTCANLPVSLDTPLLKKSAWSSTLTVSRAREVYQKASVNMD
QAMVKSESCQQERSCQYLQVPQDEWTGYTPRGKDDEIPCRRMRSGSYIKAMGDEDSGDSD
TSPKPSPKVAARRESYLKATQPSLTELTTLKISNEHSPKLQIRSHSYLRAVSEVSINRSL
DSLDPAGLLTSPKFRSRNESYMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALD
LPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSSTVSSCITTYKK
TPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALT
AAIEAANAQIHGPASQHMGNNTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAE
EPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNLENSLESIEDN
SCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDP
LEAVQRSVCHRDGHWFLKLLQAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQL
LMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDELHQLKANNWK
QMDPLDKKERRAPPPVPKKPAKGPAPLIRERSLESSQRQEARKRLMAAKRAASVRQNSAT
ESAESIEIYIPEAQTRL
NT seq 2934 nt   +upstreamnt  +downstreamnt
atgaaagggctatcaggcagccgcagccatcaccacggggtcacctgcgactcggcctgt
gactcgctgtcgcaccactccgaccgcaagccctacctgctgagcccagtggagcaccac
cccgcagaccacccatactacacccagcggaactccttccaggctgagtgcgtgggcccc
ttcagcgacccgctggccagcagcaccttcccccgcaggcactacacctcgcagcaagag
ctgaaggacgagtgtgccctggtgccccgcaccctggccaccaaggcgaaccgcatcccc
gccaacctgctggaccagttcgagcggcagctgccactcagccgcgatggctatcacacc
ctgcagtacaagcgcacggccgtggagcaccgcagcgacagccccggccgcatccgccac
ctggtgcactcggtccagaagctcttcaccaagtcgcactccctggaggggccgtccaag
ggcagcgtcaacgggggcaaggccagccctgacgaggcgcaggcggcgcgctatggcaaa
cgcagcaagagcaaggagcggcgcgcggagcccaaggcccggcccagcacctccccgggc
tggtggagctcggacgacaacctggatggtgacatgtgcatctaccacgccccctcgggc
gtgatgaccatgggcaggtgccccgaccgctcggcctcacagtacttcctggaggcctac
aacaccatcagcgagcaggcggtgaaggcctcccggagcaacaacgacgtcaagtgctcc
acctgcgccaacctgccggtcagcctggacaccccgctgctgaagaagagcgcctggtcc
tccacgctcaccgtgagccgggcccgggaggtttaccagaaggcctcggtgaacatggac
caggccatggtgaagtccgagtcgtgtcagcaagaacgctcctgccagtacctgcaggtt
ccacaagatgaatggacagggtacaccccacgaggtaaagatgatgaaattccatgccga
agaatgcggagtggcagttatatcaaggccatgggggatgaagacagtggagactcagac
acgagtcctaagccttctccaaaagttgctgcgcggagagaaagctatctcaaggctact
cagccatcccttacagaactcaccacactcaaaatctccaatgaacactcacccaaactc
cagatccggagtcatagttacctgagggcagtgagtgaagtctccatcaaccggagcctg
gacagcctggaccctgcaggcttgctcacatcaccaaagttccgctccaggaatgagagc
tacatgcgagccatgagcaccatcagccaggtgagcgagatggaagtgaacgggcagttc
gagtccgtgtgcgagtccgtgttcagcgagctggagtcgcaggccgtggaagcgctggac
ctgcccatgcccggctgcttccgcatgcggagccacagctatgtgcgggccattgagaaa
ggctgctcccaggacgacgagtgcgtgtccctgaggtcgtcctcgccgccgcgcaccacc
accaccgttaggaccatccagagcagcacggtgtcatcttgcattacaacatataagaag
acaccacctccagtcccacccagaactaccacgaaacctttcatttctatcacagcccag
agtagcacagagtcagcccaggatgcctacatggacggacagggccagcgaggagatatt
atcagccagtctggactcagcaactccaccgagagcctggacagtatgaaggctctgaca
gccgccatcgaagctgcaaacgcccagatccatggccctgccagtcaacacatgggcaat
aacactgccaccgtcaccaccacgactaccatagccaccgtcaccacggaggacaggaag
aaggaccactttaagaaaaatcgatgcctgtctatcgggatacaggtggatgatgctgaa
gaacctgacaaaacaggggagaataaagcacccagtaagttccagtccgtgggagtgcaa
gtagaagaagagaagtgcttccgcaggttcactcgatccaacagtgtgacgacagcagta
caggccgacctggacttccatgataatctggaaaattctctggaatctatagaggacaat
tcgtgtcctggccccatggccagacagttctcccgcgatgccagcacctccacagtcagc
attcagggctcaggaaaccattaccatgcctgtgccgccgatgatgactttgacacggat
tttgacccctctattctgcctcctccggacccctggattgactctatcactgaagaccct
ctggaggccgtgcaaaggtcagtgtgccaccgggatggccactggttcctgaagcttctc
caggcagagcgagaccgcatggaggggtggtgtcaacagatggagcgggaagaacgggaa
aacaacctgcccgaagacattctaggaaaaatccgaaccgcagtgggcagtgcccaactt
ctcatggcccagaaattctaccagttcagagaactgtgtgaagaaaacctgaatcctaat
gctcatccaagacccacctcccaggatttggcggggttttgggacatgctgcagttgtcc
atagaaaatattagtatgaaatttgatgaacttcatcagttaaaggccaataattggaaa
cagatggatcctcttgacaagaaggagagaagggcccctcctccagtgccaaagaagccg
gcgaagggccccgcgccgctgatccgggagcgctcgctggagagctcgcagcgccaggag
gcccgcaagcgcctgatggccgccaagcgcgccgcgtccgtccgccagaactcggccacc
gagagcgccgagagcatcgagatctacatccccgaggcgcagacccggctctga

KEGG   Homo sapiens (human): 50944
Entry
50944             CDS       T01001                                 
Symbol
SHANK1, SPANK-1, SSTRIP, synamon
Name
(RefSeq) SH3 and multiple ankyrin repeat domains 1
  KO
K15009  SH3 and multiple ankyrin repeat domains protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04724  Glutamatergic synapse
Network
nt06544  Neuroactive ligand signaling
  Element
N01880  GRM1/5-interacting scaffold proteins
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    50944 (SHANK1)
SSDB
Motif
Pfam: Ank_2 Ank SAM_1 Ank_4 Ank_5 SH3_2 SAM_2 PDZ_6 PDZ SH3_1 SH3_9 FERM_f0 SAM_PNT
Other DBs
NCBI-GeneID: 50944
NCBI-ProteinID: NP_057232
OMIM: 604999
HGNC: 15474
Ensembl: ENSG00000161681
UniProt: Q9Y566
Structure
LinkDB
Position
19:complement(50659255..50719802)
AA seq 2161 aa
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGR
SMSVPDDAHFSMMVFRIGIPDLHQTKCLRFNPDATIWTAKQQVLCALSESLQDVLNYGLF
QPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHI
DFRARDGMTALHKAACARHCLALTALLDLGGSPNYKDRRGLTPLFHTAMVGGDPRCCELL
LFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKE
TCARILLYRGADKDVKNNNGQTPFQVAVIAGNFELGELIRNHREQDVVPFQESPKYAARR
RGPPGTGLTVPPALLRANSDTSMALPDWMVFSAPGAASSGAPGPTSGSQGQSQPSAPTTK
LSSGTLRSASSPRGARARSPSRGRHPEDAKRQPRGRPSSSGTPREGPAGGTGGSGGPGGS
LGSRGRRRKLYSAVPGRSFMAVKSYQAQAEGEISLSKGEKIKVLSIGEGGFWEGQVKGRV
GWFPSDCLEEVANRSQESKQESRSDKAKRLFRHYTVGSYDSFDAPSLMDGIGPGSDYIIK
EKTVLLQKKDSEGFGFVLRGAKAQTPIEEFTPTPAFPALQYLESVDEGGVAWRAGLRMGD
FLIEVNGQNVVKVGHRQVVNMIRQGGNTLMVKVVMVTRHPDMDEAVHKKAPQQAKRLPPP
TISLRSKSMTSELEEMEYEQQPAPVPSMEKKRTVYQMALNKLDEILAAAQQTISASESPG
PGGLASLGKHRPKGFFATESSFDPHHRAQPSYERPSFLPPGPGLMLRQKSIGAAEDDRPY
LAPPAMKFSRSLSVPGSEDIPPPPTTSPPEPPYSTPPVPSSSGRLTPSPRGGPFNPGSGG
PLPASSPASFDGPSPPDTRVGSREKSLYHSGPLPPAHHHPPHHHHHHAPPPQPHHHHAHP
PHPPEMETGGSPDDPPPRLALGPQPSLRGWRGGGPSPTPGAPSPSHHGSAGGGGGSSQGP
ALRYFQLPPRAASAAMYVPARSGRGRKGPLVKQTKVEGEPQKGGGLPPAPSPTSPASPQP
PPAVAAPSEKNSIPIPTIIIKAPSTSSSGRSSQGSSTEAEPPTQPEPTGGGGGGGSSPSP
APAMSPVPPSPSPVPTPASPSGPATLDFTSQFGAALVGAARREGGWQNEARRRSTLFLST
DAGDEDGGDGGLGTGAAPGPRLRHSKSIDEGMFSAEPYLRLESAGSGAGYGGYGAGSRAY
GGGGGSSAFTSFLPPRPLVHPLTGKALDPASPLGLALAARERALKESSEGGGAPQPPPRP
PSPRYEAPPPTPHHHSPHAHHEPVLRLWGASPPDPARRELGYRAGLGSQEKSLPASPPAA
RRSLLHRLPPTAPGVGPLLLQLGTEPPAPHPGVSKPWRSAAPEEPERLPLHVRFLENCQP
RAPVTSGRGPPSEDGPGVPPPSPRRSVPPSPTSPRASEENGLPLLVLPPPAPSVDVEDGE
FLFVEPLPPPLEFSNSFEKPESPLTPGPPHPLPDTPAPATPLPPVPPPAVAAAPPTLDST
ASSLTSYDSEVATLTQGASAAPGDPHPPGPPAPAAPAPAAPQPGPDPPPGTDSGIEEVDS
RSSSDHPLETISSASTLSSLSAEGGGSAGGGGGAGAGVASGPELLDTYVAYLDGQAFGGS
STPGPPYPPQLMTPSKLRGRALGASGGLRPGPSGGLRDPVTPTSPTVSVTGAGTDGLLAL
RACSGPPTAGVAGGPVAVEPEVPPVPLPTASSLPRKLLPWEEGPGPPPPPLPGPLAQPQA
SALATVKASIISELSSKLQQFGGSSAAGGALPWARGGSGGGGDSHHGGASYVPERTSSLQ
RQRLSDDSQSSLLSKPVSSLFQNWPKPPLPPLPTGTGVSPTAAAAPGATSPSASSSSTST
RHLQGVEFEMRPPLLRRAPSPSLLPASEHKVSPAPRPSSLPILPSGPLYPGLFDIRGSPT
GGAGGSADPFAPVFVPPHPGISGGLGGALSGASRSLSPTRLLSLPPDKPFGAKPLGFWTK
FDVADWLEWLGLAEHRAQFLDHEIDGSHLPALTKEDYVDLGVTRVGHRMNIDRALKFFLE
R
NT seq 6486 nt   +upstreamnt  +downstreamnt
atgacccacagccccgcgacaagcgaggacgaggaacgccacagtgccagcgagtgtccc
gaggggggctcagagtccgacagctccccagacgggccaggtcgaggcccccgggggacc
cggggccagggcagtggggcacctggtagcctggcctctgttagaggcctccagggccgc
tcaatgtccgtcccagacgacgcccacttcagcatgatggtcttcaggattggcatcccg
gacctgcaccagacaaaatgccttcgcttcaaccccgatgccaccatctggacggccaag
cagcaggtgctctgtgccctgagcgagagcctgcaggatgtgctcaactatggcctgttc
caaccggccacctccggccgcgatgccaacttcctggaggaggagaggctgctgcgggag
tacccccagtcctttgagaagggggtcccctacctggagttccgatacaagacccgagtt
tacaaacagaccaacctggatgagaagcagctggccaagttgcacacgaagacggggttg
aagaagttcctggagtatgtgcagctcgggacatctgacaaggtggcgcggctgctggac
aaggggctggaccccaattaccatgactcggattcgggagagacccccttgacactggcg
gcccagaccgaaggctctgtagaggtgattcgaaccctgtgcctgggcggggcccacatt
gacttccgggcccgggatggcatgaccgcactgcataaggccgcatgcgcccgacactgc
ctggcactcacggcgctcctggaccttgggggttcccccaactacaaggaccgtcggggg
ctgacccctctgttccacacggccatggtgggtggtgacccccgatgctgcgagctgctc
ctgttcaacagggcccagctgggcatagctgatgagaacggctggcaggaaatccaccag
gcctgccagcggggtcactctcagcacctggagcatctgcttttctacggggctgagcct
ggagcccagaacgcctcggggaacacggctctgcacatctgcgccctctacaacaaggag
acctgtgccaggatcctcctgtatcgaggtgccgacaaggatgtgaagaacaacaacgga
cagacccccttccaggtggcagtgattgctgggaattttgagctgggggagctgatccga
aaccaccgagaacaggatgtggtgcccttccaggagtcccccaagtacgcggcccggcga
cgggggcccccaggcacagggctgacggtgcccccggcgctgctgcgggccaacagtgac
accagcatggcgctgcccgactggatggtgttctccgccccgggggccgcgtcctctggg
gcccctggccctacctcagggtcccagggccagtcgcagccctcggcccccaccaccaag
ctcagcagcgggaccctccgaagtgccagcagcccccggggtgccagggcccgctctcca
tcccgagggaggcaccctgaggacgccaagaggcagccccgaggccggcccagctccagc
gggacaccccgggaagggccagccgggggcacggggggctcagggggccccgggggctcc
ctgggcagccgcgggaggcggaggaagctctactcagcggtacccggacgctccttcatg
gctgtgaagtcctaccaggcccaagccgagggggagatctccctgagcaagggcgagaag
atcaaagtacttagcatcggggaaggaggcttctgggaaggccaggtcaaaggtcgtgtt
ggctggttcccctctgactgcctggaagaagtggcgaatcgctctcaggagagcaagcaa
gaaagccgcagtgacaaggcaaagagactcttccggcattataccgtgggctcctacgac
agctttgatgccccaagcttaatggatgggattggcccagggagcgattacatcattaag
gagaagacagtcttgctgcagaagaaggacagtgaggggtttgggttcgtgctccggggg
gccaaggcgcagacccccatcgaggagttcacccccaccccggccttcccggcgctgcag
tacctggagtcggtggacgagggtggcgtggcatggcgagctggactgcgaatgggagac
ttcctcatcgaggtgaacgggcagaatgtggtgaaggtcggccaccgacaggtggtgaac
atgatccgccaagggggcaacacgctgatggtgaaggtggtgatggtcaccaggcacccg
gacatggatgaggcagtgcacaagaaagcaccccagcaggccaagcggctgccgccccca
accatctccctgcgttccaaatctatgacctcagagctggaggagatggagtacgagcag
cagccggcgccggtgcccagcatggagaaaaagcggaccgtgtatcagatggctctcaac
aaactggacgaaatcctggccgcagctcaacagaccatcagtgcaagcgaaagccctggt
cccggtggcctcgcgtccctgggcaaacaccgacccaaaggtttctttgccactgagtcg
agcttcgatccccaccaccgtgcccagccaagttacgagcgtccttctttcctgcctcca
ggacctgggttgatgctccggcaaaaatctatcggtgcggcagaagatgacagaccttac
ctagcacccccagccatgaaattcagccgcagcctgtctgtgcctggttcggaggacatt
cccccgccacccaccacgtccccaccggagcctccctacagcacacctccagtcccctcc
tcctcagggcgcctcaccccctcccctcggggagggcccttcaaccctggctctggtggc
cccctccccgcctcctcccctgcatcctttgacgggccctcccctcccgacactcgcgtg
gggagccgcgagaagagcctgtaccacagtgggcccctgcccccggcccaccaccacccg
ccccaccaccaccaccaccacgccccgccccctcagccccaccaccaccacgcccacccc
cctcatcctcccgagatggagacaggcggctctcccgacgaccctccaccccgcctggct
ctggggccccagcccagcctgcgaggctggaggggcggcgggcccagcccgaccccgggg
gccccgtccccatcgcaccacggcagcgcgggcgggggcggcggctcctcccagggcccg
gctctacgctatttccagctgcccccgcgggcggccagcgcagccatgtacgtgcccgcc
cgctcgggccgcggccgcaagggcccgctggtcaagcagaccaaggtggaaggcgagccc
cagaagggcggcggcctcccgcccgcgccgtcgcccacgtccccggcctccccgcagccg
ccgcccgccgtggccgcgccctcggagaagaactccatccccatccccaccatcatcatc
aaggccccgtccaccagtagcagcggccgcagcagccagggcagcagcaccgaggcggag
ccccccacccagccggagcccacgggaggcggcggcggcggcggctcctcgcccagcccc
gccccggccatgtcacccgtgcccccgtccccctcgcccgtgcccacccccgcctcgccc
agcggcccggccacgctggacttcacgagccagttcggggccgccctggtgggggcggcc
cggagggaggggggctggcagaatgaggcgcgccggcgctccacgctgttcctgtccacc
gacgcgggggacgaggacggcggggacggcgggctgggcacaggggcggccccgggcccg
cggctgcgccactccaaatccatcgacgagggcatgttctccgccgagccctacctccga
ctggagtctgcgggcagcggcgcgggctacggcggctacggggccggtagccgagcctac
gggggtggcgggggcagcagcgccttcaccagcttcctgcccccgcgacccctggtgcac
ccgctgaccggcaaggccctggatcccgcctccccgctggggctggccctggccgcccgc
gagcgagcgctgaaggagtcctcggagggcggcggggccccccagccgcctcccaggccc
ccatcgccccgctacgaggccccgccgcccaccccgcaccaccactcgccccacgcccac
cacgagccagtgctgcgtctctggggggcctccccgccggaccctgcgcgccgggagctg
gggtacagggccgggctgggcagccaggagaagtcccttcccgccagcccgcccgccgcc
cggcgttccctgctacaccgcctgccgcccaccgctcccggggtggggcccctcctgctg
cagctggggacggagcccccggccccgcaccccggagtaagcaagccctggaggtccgca
gcccccgaagaacccgagcggctgccgctgcacgtgcggttccttgaaaactgccagccc
cgggcccctgtgacgagcggaaggggtcccccctcggaggacgggccgggggtcccgccg
cccagcccacgccggtccgtgcccccctccccgacctccccgagggccagcgaagagaac
gggctgcccctgctggtcctgccgcctcccgccccctcggtggatgtggaagatggcgaa
ttccttttcgtggaaccgctgcctccgcctctggaattctccaacagcttcgaaaagcca
gagtcgcccctcacgcctgggcctccccacccgctgcccgacacacctgcccctgccacc
ccgttaccccctgtgccacccccggctgtggccgcagcccctcccaccctggactccacc
gcatccagcctgacatcctatgacagcgaggtggccaccctgacccagggggcctccgcc
gctcctggggacccccatccaccaggcccgcctgccccagcagcaccggctcccgctgcc
ccacagcctggcccggaccctccgcctggcacggattctggcatcgaggaggtggacagt
cggagcagcagtgaccacccactggagaccatcagcagcgcctccacgctgagcagccta
tctgccgaaggtggtggcagcgcagggggtgggggcggggctggggccggtgtggccagt
gggccggagcttctggacacctatgtggcctacctggacggccaggcctttgggggcagc
agtactcccggcccgccataccctcctcagctcatgactccctctaagctccggggccgg
gcgctaggagccagcggaggcctgcggcctggccccagcgggggactccgagaccctgtt
acccccaccagccccaccgtctcggtgacaggggctggaaccgatgggctgctggccctg
cgtgcttgttcaggaccccccacggcaggcgtggcggggggtccggtggctgtagagcca
gaagtcccaccggtgcccttgccgacggcctcctctctgccccggaagctgctgccctgg
gaggagggcccgggcccaccgccaccacctctgcccgggcccttggcccagcctcaggcc
tcagccttggccacagtaaaagccagcatcatcagtgaactcagctccaagcttcagcag
tttgggggctcctcggcagctggcggcgctctgccctgggcccgaggaggcagtggggga
ggcggagacagccaccacgggggagccagctatgtccccgagaggacctcctccctgcag
cggcagagactctccgacgactcccagtcctcactcctctccaagcctgtcagcagcctg
tttcagaactggcccaaaccacctctgccgccactccccaccggaacaggggtctcccct
acagccgctgcggccccaggggccacctcaccctcagcctcctcctcctccacgtccacc
cgccacctccagggcgtggagttcgagatgcggccccctctgctccgccgggcccccagc
ccctcgctgctgcccgcctcggagcacaaggtcagccctgcgcccaggccctcgtccctg
cccatcctgccttccggacccctctacccaggcctctttgacatccgtggctccccaact
ggaggggcaggaggctcggctgaccccttcgccccagtctttgtgccgccacacccgggg
atatccggggggctcgggggagccttgtcaggggcctcgcgctccctctcaccgacccgc
ctgctctcgctgcccccggacaagccgtttggcgctaaacctctggggttctggaccaag
ttcgacgtggctgattggctggagtggctgggtttggcggagcaccgagcccagttcctg
gaccacgagatcgatggctcccacctgcccgccttgaccaaggaggactacgtcgatcta
ggtgtgaccagggtgggccaccgcatgaacatcgaccgggctctcaaattcttcctggag
aggtga

KEGG   Homo sapiens (human): 22941
Entry
22941             CDS       T01001                                 
Symbol
SHANK2, AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3
Name
(RefSeq) SH3 and multiple ankyrin repeat domains 2
  KO
K15009  SH3 and multiple ankyrin repeat domains protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04724  Glutamatergic synapse
Network
nt06544  Neuroactive ligand signaling
  Element
N01880  GRM1/5-interacting scaffold proteins
Disease
H02111  Autism
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    22941 (SHANK2)
SSDB
Motif
Pfam: Ank_2 Ank SAM_1 SAM_2 Ank_4 Ank_3 Ank_5 SH3_2 PDZ_6 SH3_9 PDZ FERM_f0 SH3_1 SAM_4 SAM_CEP-1_C
Other DBs
NCBI-GeneID: 22941
NCBI-ProteinID: NP_036441
OMIM: 603290
HGNC: 14295
Ensembl: ENSG00000162105
UniProt: Q9UPX8
Structure
LinkDB
Position
11:complement(70467854..71253234)
AA seq 1849 aa
MPRSPTSSEDEMAQSFSDYSVGSESDSSKEETIYDTIRATAEKPGGARTEESQGNTLVIR
VVIHDLQQTKCIRFNPDATVWVAKQRILCTLTQSLKDVLNYGLFQPASNGRDGKFLDEER
LLREYPQPVGEGVPSLEFRYKKRVYKQASLDEKQLAKLHTKTNLKKCMDHIQHRLVEKIT
KMLDRGLDPNFHDPETGETPLTLAAQLDDSVEVIKALKNGGAHLDFRAKDGMTALHKAAR
ARNQVALKTLLELGASPDYKDSYGLTPLYHTAIVGGDPYCCELLLHEHATVCCKDENGWH
EIHQACRYGHVQHLEHLLFYGADMSAQNASGNTALHICALYNQDSCARVLLFRGGNKELK
NYNSQTPFQVAIIAGNFELAEYIKNHKETDIVPFREAPAYSNRRRRPPNTLAAPRVLLRS
NSDNNLNASAPDWAVCSTATSHRSLSPQLLQQMPSKPEGAAKTIGSYVPGPRSRSPSLNR
LGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQPQ
VDGEIPLHRGDRVKVLSIGEGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSK
KLFRHYTVGSYDSFDTSSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFP
ALQYLESVDEGGVAWQAGLRTGDFLIEVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVT
RNLDPDDTARKKAPPPPKRAPTTALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASK
PSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIP
RGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPP
PSPTTYNCPKSPTPRVYGTIKPAFNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYS
LDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVE
DSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAA
AIAGAVRDREKRLEARRNSPAFLSTDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQ
LSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGN
YVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAG
FPTVTRQNTRGPLRRQETENKYETDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVD
ATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGRTIVAVGS
MEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQ
KKSDTPQSPSLNSSQPTNSADSKKPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSS
DHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSN
ALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPK
ANVISELNSILQQMNREKLAKPGEGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTV
RPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASPSPALSDV
FSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNL
GEHKEAFMDNEIDGSHLPNLQKEDLIDLGVTRVGHRMNIERALKQLLDR
NT seq 5550 nt   +upstreamnt  +downstreamnt
atgccgcgcagcccaacatccagcgaggacgagatggcccagagcttctccgactactcc
gtggggtcggagtcagacagctccaaagaagagaccatctatgacacgatccgggccact
gcggagaagccgggcggtgccaggacggaggagagccagggcaacacgctggtgatccgc
gtggtcatccatgacctgcagcagacgaaatgcattcgatttaacccggatgccacagtg
tgggttgcaaagcagcggatcctgtgtacattaacccagagtttgaaagatgtcctgaac
tacggcctgttccagccggccagcaatgggcgtgacggcaagttcctggatgaggagcgg
ctcctgcgcgagtacccacagcccgtgggtgagggcgttccttccctggagtttcgatac
aagaagcgggtgtataaacaagccagtctcgatgagaaacagttggccaagctccacacg
aagaccaatctgaagaaatgcatggatcacattcagcatcgcttggtggagaagatcacc
aagatgctggaccgaggcctggatcccaatttccacgacccggagaccggagagaccccc
ctgaccttagccgctcagctggacgactctgtggaggtcatcaaagctctcaaaaatggt
ggagctcacctggacttccgtgccaaagatgggatgaccgccctacacaaagctgcccga
gcgaggaaccaagttgccctgaagacccttttagagcttggtgcatccccagattataaa
gacagttacggcctcaccccgctgtatcacacagccatcgtcggaggtgatccctactgc
tgcgagcttctcctgcacgaacacgccactgtgtgctgcaaagatgagaacggctggcac
gagatccaccaggcctgcaggtacgggcacgtgcagcacctggagcacctgctgttctac
ggggcagacatgagtgcccagaatgcctcggggaacacggccttgcacatctgcgccctc
tacaaccaggacagctgtgcaagagtgcttctgtttcgaggcggaaataaggagttaaaa
aactacaacagccagactccatttcaggtggccataatagcaggcaactttgagctggca
gaatacatcaagaaccacaaggaaacagacattgtgcccttccgagaggccccggcgtac
tccaaccgccggcggcggccccccaacacgctggccgccccccgggtcctgctgcgctcc
aacagtgacaacaacctcaatgccagcgctcccgactgggccgtctgctccacggccacc
tcgcaccgcagcctgtcaccccagctgctgcagcagatgcccagcaagcccgagggggcc
gcgaagaccattgggagctacgtgcccgggccccgcagccggtccccatcgctcaacagg
ctgggcggcgcaggcgaggacggcaagaggccgcagcctctctggcatgtcgggtcgcct
tttgctcttggtgccaacaaggactcactctcggccttcgagtacccggggcccaagcgg
aagctctacagtgccgtgcccgggaggctcttcgtcgctgtcaagccataccaaccccaa
gtggacggcgagatcccccttcaccgcggtgacagggtcaaagttctgagcatcggtgaa
gggggcttctgggaaggcagcgcccgcggccacatcggatggtttccggcggagtgcgtg
gaggaggtccagtgtaagcccagggacagccaggcagaaacccgcgctgaccgcagcaag
aagcttttcaggcactacaccgtgggctcctatgacagcttcgacacttccagtgactgc
attattgaggagaagacggtggtcctgcagaaaaaagacaatgagggctttggattcgtg
cttcgaggggccaaagctgacacacccattgaagaattcacaccaacaccggctttccca
gccctacagtacctggagtccgtggatgaaggtggggtggcgtggcaagccggactaagg
accggggacttcttgattgaggttaacaatgagaatgttgtcaaagtcggccacaggcag
gtggtgaacatgatccggcagggagggaatcacctggtccttaaggtggtcacggtgacc
aggaatctggaccccgacgacaccgccaggaagaaagctcccccgcctccaaagcgggca
ccgaccacagccctcaccctgcgctccaagtccatgacctcggagctggaggagctcgtg
gataaagcctcggtccggaagaagaaggataaacccgaggagatagtcccggcctccaag
ccctcccgcgctgctgagaacatggctgtggaaccgagggtggcgaccatcaagcagcgg
cccagcagccggtgcttcccggcgggctcagacatgaactctgtgtacgaacgccaagga
atcgccgtgatgacgcccactgttcctgggagcccaaaagccccgtttctgggcatccct
cgaggtacgatgcgaaggcagaaatcaatagacagcagaatctttctatcaggaataaca
gaggaagagcggcagtttctggctcctccaatgctgaagttcaccagaagcctgtccatg
ccggacacctctgaggacatcccccctccaccgcagtctgtgcccccgtccccaccacca
ccttccccaaccacttacaactgccccaagtccccaactccaagagtctacgggacgatt
aagcctgcgttcaatcagaattctgccgccaaggtgtcccccgccaccaggtccgacacc
gtggccaccatgatgagggagaaggggatgtacttcaggagagagctggaccgctactcc
ttggactctgaagacctctacagtcggaatgccggcccgcaagccaacttccgcaacaag
agaggccagatgccagaaaacccatactcagaggtggggaagatcgccagcaaagccgtc
tacgtccccgccaagcccgccaggcggaaggggatgctggtgaagcagtccaacgtggag
gacagccccgagaagacgtgctccatccctatcccgaccatcatcgtgaaggagccgtcc
accagcagcagcggcaagagcagccagggcagcagcatggagatcgacccccaggccccg
gagccaccgagccagctgcggcctgacgaaagcctgaccgtcagcagcccctttgccgcc
gccatcgccggagccgtccgcgaccgtgagaagcggctggaagccaggaggaactccccg
gccttcctctccacagacctgggggatgaggatgtgggcctggggccacccgcccccagg
acgcggccctccatgttccccgaggagggggattttgctgacgaggacagcgctgagcag
ctgtcatcccccatgccgagtgccacgcccagggagcccgaaaaccatttcgtgggtggc
gccgaggccagtgctccgggtgaggctgggaggccgctgaattccacgtccaaagcccag
gggcccgagagcagcccagcagtgccctccgcgagcagcggcacagccggccccgggaat
tatgtccacccactcacagggcggctgcttgatcccagctccccgctggccctggcactc
tccgcaagggaccgagccatgaaggagtctcaacagggacccaaaggggaggcccccaag
gccgacctcaacaaacctctttacattgataccaaaatgcggcccagcctggatgccggc
ttccctacggtcaccaggcagaacacccggggacccctgaggcggcaggagacggagaac
aagtacgagaccgacctgggccgagaccggaaaggcgatgacaagaagaacatgctgatc
gacatcatggacacgtcccagcagaagtcggctggcctgctgatggtgcacaccgtggac
gccactaagctggacaacgccctgcaggaagaggacgagaaggcagaggtggagatgaag
ccagacagctcgccgtccgaggtgccagaaggtgtttccgaaaccgaaggtgctttacag
atctccgctgcccccgagcccaccaccgtgcccggcagaaccatcgtcgcggtgggctcc
atggaagaggcggtgattttgccattccgcatccctcctccccctctggcatccgtggac
ttggatgaggattttatttttacagagccattgcctcctcccctggaatttgcaaatagt
tttgatatccccgatgaccgggcagcttctgtcccggctctctcagacttagtgaagcag
aagaaaagcgacacccctcagtccccttcgttgaactccagccaaccaaccaactctgca
gacagcaagaagccagccagtctttcaaactgtctgcctgcctcattcctgccaccccct
gaaagctttgacgccgtcgccgactctgggatcgaggaggtggacagccggagtagcagc
gaccaccacctcgagacgaccagcactatctccaccgtgtctagcatctccaccctgtct
tccgaaggtggagagaatgtggacacctgcacagtctatgcagatgggcaagcatttatg
gttgacaaacccccagtacctcctaagccaaaaatgaagcccatcattcacaaaagcaat
gcactttatcaagacgcgctcgtggaagaagatgtagatagctttgttatccccccgccc
gctcccccgcccccgccgggcagtgcccagcctgggatggccaaggttctccagccaagg
acctccaagttgtggggcgacgtcacagagatcaaaagcccgattctctcaggcccaaag
gcaaacgttattagtgaattgaactctatcctacagcaaatgaaccgagagaaattggca
aagccgggggaaggactggattcaccaatgggagccaagtccgccagcctcgctccaaga
agcccggagatcatgagcaccatctcaggtacacggagcacgacggtcaccttcactgtt
cgccccggcacctcccagcccatcaccctgcagagccggccccccgactatgaaagcagg
acctcaggaacaagacgtgccccaagccctgtggtctcgccaacagagatgaacaaagag
accctgcccgcccccctgtctgctgccaccgcctctccttctcccgctctctcagatgtc
tttagccttccaagccagcccccttctggggatctatttggcttgaacccagcgggacgc
agtaggtcgccatccccctcgatactgcaacagccaatctcaaataagccttttacaact
aaacctgtccacctgtggactaaaccagatgtggccgattggctggaaagtctaaacttg
ggtgaacataaagaggccttcatggacaatgagatcgatggcagtcacttaccaaacctg
cagaaggaggacctcatcgatcttggggtaactcgagtcgggcacagaatgaacatagaa
agggctttgaaacagctgctggacagataa

KEGG   Homo sapiens (human): 85358
Entry
85358             CDS       T01001                                 
Symbol
SHANK3, DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2
Name
(RefSeq) SH3 and multiple ankyrin repeat domains 3
  KO
K15009  SH3 and multiple ankyrin repeat domains protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04724  Glutamatergic synapse
Network
nt06544  Neuroactive ligand signaling
  Element
N01880  GRM1/5-interacting scaffold proteins
Disease
H01238  Phelan-McDermid syndrome
H01649  Schizophrenia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    85358 (SHANK3)
SSDB
Motif
Pfam: Ank_2 SAM_1 Ank Ank_4 SAM_2 SH3_2 Ank_3 PDZ_6 Ank_5 SH3_9 PDZ SH3_1 FERM_f0
Other DBs
NCBI-GeneID: 85358
NCBI-ProteinID: NP_001358973
OMIM: 606230
HGNC: 14294
Ensembl: ENSG00000251322
LinkDB
Position
22:50672823..50733212
AA seq 1806 aa
MQLSRAAAAAAAAPAEPPEPLSPAPAPAPAPPGPLPRSAADGAPAGGKGGPGRRAESPGA
PFPGASGPGPGPGAGMDGPGASAVVVRVGIPDLQQTKCLRLDPAAPVWAAKQRVLCALNH
SLQDALNYGLFQPPSRGRAGKFLDEERLLQEYPPNLDTPLPYLEFRYKRRVYAQNLIDDK
QFAKLHTKANLKKFMDYVQLHSTDKVARLLDKGLDPNFHDPDSGECPLSLAAQLDNATDL
LKVLKNGGAHLDFRTRDGLTAVHCATRQRNAAALTTLLDLGASPDYKDSRGLTPLYHSAL
GGGDALCCELLLHDHAQLGITDENGWQEIHQACRFGHVQHLEHLLFYGADMGAQNASGNT
ALHICALYNQESCARVLLFRGANRDVRNYNSQTAFQVAIIAGNFELAEVIKTHKDSDVVP
FRETPSYAKRRRLAGPSGLASPRPLQRSASDINLKGEAQPAASPGPSLRSLPHQLLLQRL
QEEKDRDRDADQESNISGPLAGRAGQSKISPSGPGGPGPAPGPGPAPPAPPAPPPRGPKR
KLYSAVPGRKFIAVKAHSPQGEGEIPLHRGEAVKVLSIGEGGFWEGTVKGRTGWFPADCV
EEVQMRQHDTRPETREDRTKRLFRHYTVGSYDSLTSHSDYVIDDKVAVLQKRDHEGFGFV
LRGAKAETPIEEFTPTPAFPALQYLESVDVEGVAWRAGLRTGDFLIEVNGVNVVKVGHKQ
VVALIRQGGNRLVMKVVSVTRKPEEDGARRRAPPPPKRAPSTTLTLRSKSMTAELEELAS
IRRRKGEKLDEMLAAAAEPTLRPDIADADSRAATVKQRPTSRRITPAEISSLFERQGLPG
PEKLPGSLRKGIPRTKSVGEDEKLASLLEGRFPRSTSMQDPVREGRGIPPPPQTAPPPPP
APYYFDSGPPPAFSPPPPPGRAYDTVRSSFKPGLEARLGAGAAGLYEPGAALGPLPYPER
QKRARSMIILQDSAPESGDAPRPPPAATPPERPKRRPRPPGPDSPYANLGAFSASLFAPS
KPQRRKSPLVKQLQVEDAQERAALAVGSPGPGGGSFAREPSPTHRGPRPGGLDYGAGDGP
GLAFGGPGPAKDRRLEERRRSTVFLSVGAIEGSAPGADLPSLQPSRSIDERLLGTGPTAG
RDLLLPSPVSALKPLVSGPSLGPSGSTFIHPLTGKPLDPSSPLALALAARERALASQAPS
RSPTPVHSPDADRPGPLFVDVQARDPERGSLASPAFSPRSPAWIPVPARREAEKVPREER
KSPEDKKSMILSVLDTSLQRPAGLIVVHATSNGQEPSRLGGAEEERPGTPELAPAPMQSA
AVAEPLPSPRAQPPGGTPADAGPGQGSSEEEPELVFAVNLPPAQLSSSDEETREELARIG
LVPPPEEFANGVLLATPLAGPGPSPTTVPSPASGKPSSEPPPAPESAADSGVEEADTRSS
SDPHLETTSTISTVSSMSTLSSESGELTDTHTSFADGHTFLLEKPPVPPKPKLKSPLGKG
PVTFRDPLLKQSSDSELMAQQHHAASAGLASAAGPARPRYLFQRRSKLWGDPVESRGLPG
PEDDKPTVISELSSRLQQLNKDTRSLGEEPVGGLGSLLDPAKKSPIAAARLFSSLGELSS
ISAQRSPGGPGGGASYSVRPSGRYPVARRAPSPVKPASLERVEGLGAGAGGAGRPFGLTP
PTILKSSSLSIPHEPKEVRFVVRSVSARSRSPSPSPLPSPASGPGPGAPGPRRPFQQKPL
QLWSKFDVGDWLESIHLGEHRDRFEDHEIEGAHLPALTKDDFVELGVTRVGHRMNIERAL
RQLDGS
NT seq 5421 nt   +upstreamnt  +downstreamnt
atgcagctgagccgcgccgccgccgccgccgccgccgcccctgcggagcccccggagccg
ctgtcccccgcgccggccccggccccggccccccccggccccctcccgcgcagcgcggcc
gacggggctccggcgggggggaagggggggccggggcgccgcgcggagtccccgggcgct
ccgttccccggcgcgagcggccccggcccgggccccggcgcggggatggacggccccggg
gccagcgccgtggtcgtgcgcgtcggcatcccggacctgcagcagacgaagtgcctgcgc
ctggacccggccgcgcccgtgtgggccgccaagcagcgcgtgctctgcgccctcaaccac
agcctccaggacgcgctcaactatgggcttttccagccgccctcccggggccgcgccggc
aagttcctggatgaggagcggctcctgcaggagtacccgcccaacctggacacgcccctg
ccctacctggagtttcgatacaagcggcgagtttatgcccagaacctcatcgatgataag
cagtttgcaaagcttcacacaaaggcgaacctgaagaagttcatggactacgtccagctg
catagcacggacaaggtggcacgcctgttggacaaggggctggaccccaacttccatgac
cctgactcaggagagtgccccctgagcctcgcagcccagctggacaacgccacggacctg
ctaaaggtgctgaagaatggtggtgcccacctggacttccgcactcgcgatgggctcact
gccgtgcactgtgccacacgccagcggaatgcggcagcactgacgaccctgctggacctg
ggggcttcacctgactacaaggacagccgcggcttgacacccctctaccacagcgccctg
gggggtggggatgccctctgctgtgagctgcttctccacgaccacgctcagctggggatc
accgacgagaatggctggcaggagatccaccaggcctgccgctttgggcacgtgcagcat
ctggagcacctgctgttctatggggcagacatgggggcccagaacgcctcggggaacaca
gccctgcacatctgtgccctctacaaccaggagagctgtgctcgtgtcctgctcttccgt
ggagctaacagggatgtccgcaactacaacagccagacagccttccaggtggccatcatc
gcagggaactttgagcttgcagaggttatcaagacccacaaagactcggatgttgtacca
ttcagggaaacccccagctatgcgaagcggcggcgactggctggccccagtggcttggca
tcccctcggcctctgcagcgctcagccagcgatatcaacctgaagggggaggcacagcca
gcagcttctcctggaccctcgctgagaagcctcccccaccagctgctgctccagcggctg
caagaggagaaagatcgtgaccgggatgccgaccaggagagcaacatcagtggcccttta
gcaggcagggccggccaaagcaagatcagcccgagcgggcccggcggccccggccccgcg
cccggccccggccccgcgccccctgcgccccccgcaccgccgccccggggcccgaagcgg
aaactttacagcgccgtccccggccgcaagttcatcgccgtgaaggcgcacagcccgcag
ggtgaaggcgagatcccgctgcaccgcggcgaggccgtgaaggtgctcagcattggggag
ggcggtttctgggagggaaccgtgaaaggccgcacgggctggttcccggccgactgcgtg
gaggaagtgcagatgaggcagcatgacacacggcctgaaacgcgggaggaccggacgaag
cggctctttcggcactacacagtgggctcctacgacagcctcacctcacacagcgattat
gtcattgatgacaaagtggctgtcctgcagaaacgggaccacgagggctttggttttgtg
ctccggggagccaaagcagagacccccatcgaggagttcacgcccacgccagccttcccg
gcgctgcagtatctcgagtcggtggacgtggagggtgtggcctggagggccgggctgcgc
acgggagacttcctcatcgaggtgaacggggtgaacgtggtgaaggtcggacacaagcag
gtggtggctctgattcgccagggtggcaaccgcctcgtcatgaaggttgtgtctgtgaca
aggaagccagaagaggacggggctcggcgcagagccccaccgccccccaagagggccccc
agcaccacactgaccctgcgctccaagtccatgacagctgagctcgaggaacttgcctcc
attcggagaagaaaaggggagaagctggacgagatgctggcagccgccgcagagccaacg
ctgcggccagacatcgcagacgcagactccagagccgccaccgtcaaacagaggcccacc
agtcggaggatcacacccgccgagattagctcattgtttgaacgccagggcctcccaggc
ccagagaagctgccgggctccttgcggaaggggattccacggaccaagtctgtaggggag
gacgagaagctggcgtccctgctggaagggcgcttcccgcggagcacctcgatgcaagac
ccggtgcgcgagggtcgcggcatcccgcccccgccgcagaccgcgccgcctcccccgccc
gcgccctactacttcgactcggggccgcccccggccttctcgccgccgcccccgccgggc
cgcgcctacgacacggtgcgctccagcttcaagcccggcctggaggcgcgcctgggcgcg
ggcgctgccggcctgtacgagccgggcgcggccctcggcccgctgccgtatcccgagcgg
cagaagcgcgcgcgctccatgatcatcctgcaggactcggcgcccgagtcgggcgacgcc
cctcgacccccgcccgcggccaccccgcccgagcgacccaagcgccggccgcggccgccc
ggccccgacagcccctacgccaacctgggcgccttcagcgccagcctcttcgctccgtcc
aagccgcagcgccgcaagagccccctggtgaagcagctgcaggtggaggacgcgcaggag
cgcgcggccctggccgtgggcagccccggtcccggcggcggcagcttcgcccgcgagccc
tccccgacccaccgcggtccgcgcccgggtggcctcgactacggcgcgggcgatggcccg
gggctcgcgttcggcggcccgggcccggccaaggaccggcggctggaggagcggcgccgc
tccactgtgttcctgtccgtgggggccatcgagggcagcgcccccggcgcggatctgcca
tccctacagccctcccgctccatcgacgagcgcctcctggggaccggccccaccgccggc
cgcgacctgctgctgccctccccggtgtctgccctgaagccgttggtcagcggcccgagc
ctggggccctcgggttccaccttcatccacccactcaccggcaaacccctggaccccagc
tcacccctggcccttgccctggctgcccgagagcgagctctggcctcccaggcgccctcc
cggtcccccacacccgtgcacagtcccgacgccgaccgccccggacccctgtttgtggat
gtacaggcccgggacccagagcgagggtccctggcttccccggctttctccccacggagc
ccagcctggattcctgtgcctgctcgcagggaggcagagaaggtcccccgggaggagcgg
aagtcacccgaggacaagaagtccatgatcctcagcgtcctggacacatccctgcagcgg
ccagctggcctcatcgttgtgcacgccaccagcaacgggcaggagcccagcaggctgggg
ggggccgaagaggagcgcccgggcaccccggagttggccccggcccccatgcagtcagcg
gctgtggcagagcccctgcccagcccccgggcccagccccctggtggcaccccggcagac
gccgggccaggccagggcagctcagaggaagagccagagctggtgtttgctgtgaacctg
ccacctgcccagctgtcgtccagcgatgaggagaccagggaggagctggcccgaattggg
ttggtgccaccccctgaagagtttgccaacggggtcctgctggccaccccactcgctggc
ccgggcccctcgcccaccacggtgcccagcccggcctcagggaagcccagcagtgagcca
ccccctgcccctgagtctgcagccgactctggggtggaggaggctgacacacgcagctcc
agcgacccccacctggagaccacaagcaccatctccacggtgtccagcatgtccaccttg
agctcggagagcggggaactcactgacacccacacctccttcgctgacggacacactttt
ctactcgagaagccaccagtgcctcccaagcccaagctcaagtccccgctggggaagggg
ccggtgaccttcagggacccgctgctgaagcagtcctcggacagcgagctcatggcccag
cagcaccacgccgcctctgccgggctggcctctgccgccgggcctgcccgccctcgctac
ctcttccagagaaggtccaagctatggggggaccccgtggagagccgggggctccctggg
cctgaagacgacaaaccaactgtgatcagtgagctcagctcccgcctgcagcagctgaac
aaggacacgcgttccctgggggaggaaccagttggtggcctgggcagcctgctggaccct
gccaagaagtcgcccatcgcagcagctcggctcttcagcagcctcggtgagctgagctcc
atttcagcgcagcgcagccccgggggcccgggcggcggggcctcgtactcggtgaggccc
agtggccgctaccccgtggcgagacgcgccccgagcccggtgaagcccgcgtcgctggag
cgggtggaggggctgggggcgggcgcggggggcgcagggcggcccttcggcctcacgccc
cccaccatcctcaagtcgtccagcctctccatcccgcacgagcccaaggaggtgcgcttc
gtggtgcgcagcgtgagcgcgcgcagtcgctccccctcgccgtcgccgctgccctcgccc
gcgtccggccccggccccggcgcccccggcccacgccgacccttccagcagaagccgctg
cagctctggagcaagttcgacgtgggcgactggctggagagcatccacctaggcgagcac
cgcgaccgcttcgaggaccatgagatagaaggcgcgcacctacccgcgcttaccaaggac
gacttcgtggagctgggcgtcacgcgcgtgggccaccgcatgaacatcgagcgcgcgctc
aggcagctggacggcagctga

KEGG   Homo sapiens (human): 9456
Entry
9456              CDS       T01001                                 
Symbol
HOMER1, HOMER, HOMER1A, HOMER1B, HOMER1C, SYN47, Ves-1
Name
(RefSeq) homer scaffold protein 1
  KO
K15010  homer
Organism
hsa  Homo sapiens (human)
Pathway
hsa04068  FoxO signaling pathway
hsa04724  Glutamatergic synapse
Network
nt06544  Neuroactive ligand signaling
  Element
N01880  GRM1/5-interacting scaffold proteins
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04068 FoxO signaling pathway
    9456 (HOMER1)
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    9456 (HOMER1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    9456 (HOMER1)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   9456 (HOMER1)
SSDB
Motif
Pfam: WH1 GAS DAHL HMMR_N BLOC1_2 ATG16 DUF1664 FUSC DUF7310 CCDC138_cc NPV_P10 EzrA DUF4164 Crescentin
Other DBs
NCBI-GeneID: 9456
NCBI-ProteinID: NP_004263
OMIM: 604798
HGNC: 17512
Ensembl: ENSG00000152413
UniProt: Q86YM7 Q5U5K4
LinkDB
Position
5:complement(79372636..79514134)
AA seq 354 aa
MGEQPIFSTRAHVFQIDPNTKKNWVPTSKHAVTVSYFYDSTRNVYRIISLDGSKAIINST
ITPNMTFTKTSQKFGQWADSRANTVYGLGFSSEHHLSKFAEKFQEFKEAARLAKEKSQEK
MELTSTPSQESAGGDLQSPLTPESINGTDDERTPDVTQNSEPRAEPTQNALPFSHSSAIS
KHWEAELATLKGNNAKLTAALLESTANVKQWKQQLAAYQEEAERLHKRVTELECVSSQAN
AVHTHKTELNQTIQELEETLKLKEEEIERLKQEIDNARELQEQRDSLTQKLQEVEIRNKD
LEGQLSDLEQRLEKSQNEQEAFRNNLKTLLEILDGKIFELTELRDNLAKLLECS
NT seq 1065 nt   +upstreamnt  +downstreamnt
atgggggaacaacctatcttcagcactcgagctcatgtcttccaaattgacccaaacaca
aagaagaactgggtacccaccagcaagcatgcagttactgtgtcttatttctatgacagc
acaagaaatgtgtataggataatcagtttagatggctcaaaggcaataataaatagtacc
atcaccccaaacatgacatttactaaaacatctcagaagtttggccagtgggctgatagc
cgggcaaacaccgtttatggattgggattctcctctgagcatcatctttcgaaatttgca
gaaaagtttcaggaatttaaagaagctgctcgactagcaaaggaaaaatcacaagagaag
atggaacttaccagtacaccttcacaggaatccgcaggcggggatcttcagtctccttta
acaccggaaagtatcaacgggacagatgatgaaagaacacctgatgtgacacagaactca
gagccaagggctgaaccaactcagaatgcattgccattttcacatagttcagcaatcagc
aaacattgggaggctgaactggctaccctcaaaggaaataatgccaaactcactgcagcc
ctgctggagtccactgccaatgtgaaacaatggaaacagcaacttgctgcctatcaagag
gaagcagaacgtctgcacaagcgggtgactgaacttgaatgtgttagtagccaagcaaat
gcagtacatactcataagacagaattaaatcagacaatacaagaactggaagagacactg
aaactgaaggaagaggaaatagaaaggttaaaacaagaaattgataatgccagagaacta
caagaacagagggattctttgactcagaaactacaggaagtagaaattcggaacaaagac
ctggagggacaactgtctgacttagagcaacgtctggagaaaagtcagaatgaacaagaa
gcttttcgcaataacctgaagacactcttagaaattctggatggaaagatatttgaacta
acagaattacgagataacttggccaagctactagaatgcagctaa

KEGG   Homo sapiens (human): 9455
Entry
9455              CDS       T01001                                 
Symbol
HOMER2, ACPD, CPD, DFNA68, HOMER-2, VESL-2
Name
(RefSeq) homer scaffold protein 2
  KO
K15010  homer
Organism
hsa  Homo sapiens (human)
Pathway
hsa04068  FoxO signaling pathway
hsa04724  Glutamatergic synapse
Network
nt06544  Neuroactive ligand signaling
  Element
N01880  GRM1/5-interacting scaffold proteins
Disease
H00604  Deafness, autosomal dominant
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04068 FoxO signaling pathway
    9455 (HOMER2)
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    9455 (HOMER2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    9455 (HOMER2)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   9455 (HOMER2)
SSDB
Motif
Pfam: WH1 SYCE1 CENP-F_leu_zip MAD Phage_GP20 DMPK_coil GAS Uso1_p115_C Crescentin ADIP COG6_N FUSC
Other DBs
NCBI-GeneID: 9455
NCBI-ProteinID: NP_955362
OMIM: 604799
HGNC: 17513
Ensembl: ENSG00000103942
UniProt: Q9NSB8
LinkDB
Position
15:complement(82834661..82986157)
AA seq 354 aa
MGEQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINST
ITPNMTFTKTSQKFGQWADSRANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEK
IETSSNHSQESGRETPSSTQASSVNGTDDEKASHAGPANTHLKSENDKLKIALTQSAANV
KKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLRNKIDELEEQCSEIN
REKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQN
LEDKVRSLKTDIEESKYRQRHLKVELKSFLEVLDGKIDDLHDFRRGLSKLGTDN
NT seq 1065 nt   +upstreamnt  +downstreamnt
atgggagaacagcccatcttcaccacccgagcgcatgtcttccagattgaccccaacacc
aagaagaactggatgcctgcgagcaagcaggcggtcaccgtttcctacttctatgatgtc
acaaggaacagctatcggatcatcagtgtggacggagccaaggtgatcataaacagcaca
atcacaccgaatatgaccttcaccaaaacgtcacagaagtttgggcagtgggccgacagc
agagccaacacagtgtttggtttggggttttcctctgagcagcagctgacaaagtttgca
gagaaattccaggaggtgaaagaagctgccaagatagccaaagacaagacgcaggagaaa
atcgagacctcaagtaatcattcccaagaatctgggcgtgaaaccccatcttctactcag
gcatccagtgtcaacgggacggacgatgaaaaggcctctcacgccggtccagccaacaca
cacctgaagtctgagaatgacaagctgaagattgccttgacgcagagcgcagccaacgtg
aagaagtgggagatcgagctgcagacccttcgggagagcaatgcacggctgaccacagca
ctgcaggagtcggcagccagtgtggagcagtggaagaggcagttctccatctgccgtgat
gagaatgaccggctccgcaacaagattgatgagctggaagaacaatgcagtgagatcaac
agagagaaggagaagaacacgcagctgaagaggaggatcgaggagctggaggcagagctc
cgagaaaaggagacagagctgaaagatctccgaaaacaaagtgaaatcatacctcagctc
atgtcagagtgcgaatatgtctctgagaagctagaggcggcagagagagacaatcaaaac
ctggaagacaaagtgcgttccttaaagacagacattgaggagagcaaataccgacagcgc
cacctgaaggtggagttgaagagcttcctggaggtgctggacgggaagattgacgacctg
catgacttccgccgagggctctccaagctgggcaccgataactag

KEGG   Homo sapiens (human): 9454
Entry
9454              CDS       T01001                                 
Symbol
HOMER3, HOMER-3, VESL3
Name
(RefSeq) homer scaffold protein 3
  KO
K15010  homer
Organism
hsa  Homo sapiens (human)
Pathway
hsa04068  FoxO signaling pathway
hsa04724  Glutamatergic synapse
Network
nt06544  Neuroactive ligand signaling
  Element
N01880  GRM1/5-interacting scaffold proteins
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04068 FoxO signaling pathway
    9454 (HOMER3)
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    9454 (HOMER3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    9454 (HOMER3)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   9454 (HOMER3)
SSDB
Motif
Pfam: WH1 CENPU Sec66 bZIP_2 DUF4407 MerR-DNA-bind AAA_13 RasGAP_C Allexi_40kDa PDXDC1-like_cen2 Phage_GP20
Other DBs
NCBI-GeneID: 9454
NCBI-ProteinID: NP_001139194
OMIM: 604800
HGNC: 17514
Ensembl: ENSG00000051128
UniProt: Q9NSC5
Structure
LinkDB
Position
19:complement(18929201..18941217)
AA seq 361 aa
MSTAREQPIFSTRAHVFQIDPATKRNWIPAGKHALTVSYFYDATRNVYRIISIGGAKAII
NSTVTPNMTFTKTSQKFGQWADSRANTVYGLGFASEQHLTQFAEKFQEVKEAARLAREKS
QDGGELTSPALGLASHQVPPSPLVSANGPGEEKLFRSQSADAPGPTERERLKKMLSEGSV
GEVQWEAEFFALQDSNNKLAGALREANAAAAQWRQQLEAQRAEAERLRQRVAELEAQAAS
EVTPTGEKEGLGQGQSLEQLEALVQTKDQEIQTLKSQTGGPREALEAAEREETQQKVQDL
ETRNAELEHQLRAMERSLEEARAERERARAEVGRAAQLLDVSLFELSELREGLARLAEAA
P
NT seq 1086 nt   +upstreamnt  +downstreamnt
atgtccacagccagggagcagccaatcttcagcacacgggcgcacgtgttccaaattgac
ccagccaccaagcgaaactggatcccagcgggcaagcacgcactcactgtctcctatttc
tacgatgccacccgcaatgtgtaccgcatcatcagcatcggaggcgccaaggccatcatc
aacagcactgtcactcccaacatgaccttcaccaaaacttcccagaagttcgggcagtgg
gccgacagtcgcgccaacacagtctacggcctgggctttgcctctgaacagcatctgaca
cagtttgccgagaagttccaggaagtgaaggaagcagccaggctggccagggagaaatct
caggatggcggggagctcaccagtccagccctggggctcgcctcccaccaggtgcccccg
agccctctcgtcagtgccaacggccccggcgaggaaaaactgttccgcagccagagcgct
gatgcccccggccccacagagcgcgagcggctaaagaagatgttgtctgagggctccgtg
ggcgaggtacagtgggaggccgagtttttcgcactgcaggacagcaacaacaagctggca
ggcgccctgcgagaggccaacgccgccgcagcccagtggaggcagcagctggaggctcag
cgtgcagaggccgagcggctgcggcagcgggtggctgagctggaggctcaggcagcttca
gaggtgacccccaccggtgagaaggaggggctgggccagggccagtcgctggaacagctg
gaagctctggtgcaaaccaaggaccaggagattcagaccctgaagagtcagactgggggg
ccccgcgaggccctggaggctgccgagcgtgaggagactcagcagaaggtgcaggacctg
gagacccgcaatgcggagttggagcaccagctgcgggcgatggagcgcagcctggaggag
gcacgggcagagcgggagcgggcgcgggctgaggtgggccgggcagcgcagctgctggac
gtcagcctgtttgagctgagtgagctgcgtgagggcctggcccgcctggctgaggctgcg
ccctga

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