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
UniProt: A0AAG2UY11
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

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