KEGG   Homo sapiens (human): 23154
Entry
23154             CDS       T01001                                 
Symbol
NCDN, NEDIES
Name
(RefSeq) neurochondrin isoform 1
  KO
K27819  neurochondrin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04724  Glutamatergic synapse
Network
nt06544  Neuroactive ligand signaling
  Element
N01881  GRM1/5-interacting partners
Disease
H02892  Neurodevelopmental disorder with infantile epileptic spasms
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    23154 (NCDN)
SSDB
Motif
Pfam: Neurochondrin
Other DBs
NCBI-GeneID: 23154
NCBI-ProteinID: NP_001014839
OMIM: 608458
HGNC: 17597
UniProt: Q9UBB6
LinkDB
Position
1:35557799..35566779
AA seq 729 aa
MSCCDLAAAGQLGKASIMASDCEPALNQAEGRNPTLERYLGALREAKNDSEQFAALLLVT
KAVKAGDIDAKTRRRIFDAVGFTFPNRLLTTKEAPDGCPDHVLRALGVALLACFCSDPEL
AAHPQVLNKIPILSTFLTARGDPDDAARRSMIDDTYQCLTAVAGTPRGPRHLIAGGTVSA
LCQAYLGHGYGFDQALALLVGLLAAAETQCWKEAEPDLLAVLRGLSEDFQKAEDASKFEL
CQLLPLFLPPTTVPPECYRDLQAGLARILGSKLSSWQRNPALKLAARLAHACGSDWIPAG
SSGSKFLALLVNLACVEVRLALEETGTEVKEDVVTACYALMELGIQECTRCEQSLLKEPQ
KVQLVSVMKEAIGAVIHYLLQVGSEKQKEPFVFASVRILGAWLAEETSSLRKEVCQLLPF
LVRYAKTLYEEAEEANDLSQQVANLAISPTTPGPTWPGDALRLLLPGWCHLTVEDGPREI
LIKEGAPSLLCKYFLQQWELTSPGHDTSVLPDSVEIGLQTCCHIFLNLVVTAPGLIKRDA
CFTSLMNTLMTSLPALVQQQGRLLLAANVATLGLLMARLLSTSPALQGTPASRGFFAAAI
LFLSQSHVARATPGSDQAVLALSPEYEGIWADLQELWFLGMQAFTGCVPLLPWLAPAALR
SRWPQELLQLLGSVSPNSVKPEMVAAYQGVLVELARANRLCREAMRLQAGEETASHYRMA
ALEQCLSEP
NT seq 2190 nt   +upstreamnt  +downstreamnt
atgtcgtgttgtgacctggctgcggcgggacagttgggcaaggcgagcatcatggcctcg
gattgcgagccagctctgaaccaggcagagggccgaaaccccaccctggagcgctacctg
ggagccctccgtgaggccaagaatgacagcgagcagtttgcagccctgctgctagtgacc
aaggcagtcaaagcaggtgacatagatgccaaaactcggcggcggatcttcgatgctgtc
ggcttcaccttccccaatcgtctcctgaccaccaaggaggcgccggatggctgccctgac
catgttctgcgggctttgggtgtggccctgctggcctgcttctgcagtgaccctgaactg
gccgcccatccccaagtcctgaacaagattcccattcttagcaccttcctcacagcccgg
ggggacccggacgatgctgcccgccgctccatgattgatgacacctaccagtgcctgacg
gctgtagcaggcacacccagagggcctcggcacctcattgctggtggcaccgtgtctgcc
ctatgccaggcatacctggggcacggctatggctttgaccaggccctggcactcctggtg
gggctgctggctgctgccgagacacagtgctggaaggaggcggagcccgacctgctggcc
gtgttgcggggcctcagtgaggatttccagaaagctgaggatgccagcaagtttgagctc
tgccagctgctgcccctctttttgcccccgacaaccgtgccccctgaatgctaccgggat
ctgcaggccgggctggcacgcatcctgggaagcaagctgagctcctggcagcgcaaccct
gcactgaagctggcagcccgcctggcacacgcctgcggctccgactggatcccggcgggc
agctccgggagcaagttcctggccctgctggtgaatctggcgtgcgtggaagtgcggctg
gcactggaggagacgggcacggaggtgaaagaggatgtggtgaccgcctgctatgccctc
atggagttggggatccaggaatgcactcgctgtgagcagtcactgcttaaggagccacag
aaggtgcagctcgtgagcgtcatgaaggaggccataggggctgttatccactacctgctg
caggtggggtcagagaagcagaaggagccctttgtgtttgcctcggtgcggatcctgggt
gcctggctggccgaggagacctcatccttgcgtaaggaggtgtgccagctgctgcccttc
ctcgtccgctatgccaagaccctctacgaggaggccgaggaggccaatgacctttcccag
caggtggccaacctggccatctcccccaccaccccagggcccacctggccaggagacgct
ctccggctcctcctgcctggctggtgccacctgaccgttgaagatgggccccgggagatc
ctgatcaaggaaggggccccctcgcttctgtgcaagtatttcctgcagcagtgggaactc
acatcccctggccacgacacctcggtgctgcctgacagcgtggagattggcctgcagacc
tgctgccacatcttcctcaacctcgtggtcaccgcaccggggctgatcaagcgtgacgcc
tgcttcacatctctaatgaacaccctcatgacgtcgctaccagcactagtgcagcaacag
ggaaggctgcttctggctgctaatgtggccaccctggggctcctcatggcccggctcctt
agcacctctccagctcttcagggaacaccagcatcccgagggttcttcgcagctgccatc
ctcttcctatcacagtcccacgtggcgcgggccaccccgggctcagaccaggcagtgcta
gccctgtcccctgagtatgagggcatctgggccgacctgcaggagctctggttcctgggc
atgcaggccttcaccggctgtgtgcctctgctgccctggctggcccccgctgccctgcgc
tcccgctggccgcaggagctgctccagctgctaggcagtgtcagccccaactctgtcaag
cccgagatggtggccgcctatcagggtgtcctggtggagctggcgcgggccaaccggctg
tgccgggaggccatgaggctgcaggcgggcgaggagacggccagccactaccgcatggct
gccttggagcagtgcctgtcagagccctga

KEGG   Homo sapiens (human): 160622
Entry
160622            CDS       T01001                                 
Symbol
TAMALIN, GRASP
Name
(RefSeq) protein TAMALIN isoform 1
  KO
K24053  general receptor for phosphoinositides 1-associated scaffold protein
Organism
hsa  Homo sapiens (human)
Network
nt06544  Neuroactive ligand signaling
  Element
N01881  GRM1/5-interacting partners
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    160622 (TAMALIN)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 PDZ domain-containing proteins
  Other PDZ domain-containing proteins
   160622 (TAMALIN)
SSDB
Motif
Pfam: PDZ PDZ_6 PDZ_2 RRP40_N_mamm
Other DBs
NCBI-GeneID: 160622
NCBI-ProteinID: NP_859062
OMIM: 612027
HGNC: 18707
Ensembl: ENSP00000293662.4
UniProt: Q7Z6J2
Structure
LinkDB
Position
12:52006946..52015889
AA seq 395 aa
MTLRRLRKLQQKEEAAATPDPAARTPDSEVAPAAPVPTPGPPAAAATPGPPADELYAALE
DYHPAELYRALAVSGGTLPRRKGSGFRWKNLSQSPEQQRKVLTLEKEDNQTFGFEIQTYG
LHHREEQRVEMVTFVCRVHESSPAQLAGLTPGDTIASVNGLNVEGIRHREIVDIIKASGN
VLRLETLYGTSIRKAELEARLQYLKQTLYEKWGEYRSLMVQEQRLVHGLVVKDPSIYDTL
ESVRSCLYGAGLLPGSLPFGPLLAVPGRPRGGARRARGDADDAVYHTCFFGDSEPPALPP
PPPPARAFGPGPAETPAVGPGPGPRAALSRSASVRCAGPGGGGGGGAPGALWTEAREQAL
CGPGLRKTKYRSFRRRLLKFIPGLNRSLEEEESQL
NT seq 1188 nt   +upstreamnt  +downstreamnt
atgaccctccgccgactcaggaagctgcagcagaaggaggaggcggcggccaccccggac
cccgccgcccggactcccgactcggaagtcgcgcccgccgctccggtcccgaccccggga
ccccctgccgcagccgccacccctgggcccccagcggacgagctgtacgcggcgctggag
gactatcaccctgccgagctgtaccgcgcgctcgccgtgtccgggggcaccctgccccgc
cgaaagggctcaggattccgctggaagaatctcagccagagtcctgaacagcagcggaaa
gtgctgacgttggagaaggaggataaccagaccttcggctttgagatccagacttatggc
cttcaccaccgggaggagcagcgtgtggaaatggtgacctttgtctgccgagttcatgag
tctagccctgcccagctggctgggctcacaccaggggacaccatcgccagcgtcaatggc
ctgaatgtggaaggcatccggcatcgagagattgtggacatcattaaggcgtcaggcaat
gttctcagactggaaactctatatgggacatcaattcggaaggcagaactggaggctcgt
ctgcagtacctgaagcaaaccctgtatgagaagtggggagagtacaggtccctaatggtg
caggagcagcggctggtgcatggcctggtggtgaaggaccccagcatctacgacacgctg
gagtcggtgcgctcctgcctctacggcgcgggcctgctcccgggctcgctgcccttcggg
cctctgctcgccgtgcccgggcgtccccgcggaggcgcccgacgggccaggggcgacgcc
gacgacgccgtctaccacacgtgcttcttcggggactccgagccgccggcgctgccgccc
ccgccgcccccggcccgcgccttcggcccgggccccgccgagacccctgccgtggggccg
ggccctgggccgcgggccgcgctgagccgcagcgccagtgtgcggtgcgcgggccctggc
gggggcggaggcgggggcgcgccgggcgcgctctggactgaggctcgcgagcaggcccta
tgcggccccggcctgcgcaaaaccaagtaccgcagcttccgccggcggctgctcaagttc
atccccggactcaaccgctccctggaggaggaggagagccagctgtag

KEGG   Homo sapiens (human): 9758
Entry
9758              CDS       T01001                                 
Symbol
FRMPD4, MRX104, PDZD10, PDZK10, XLID104
Name
(RefSeq) FERM and PDZ domain-containing protein 4 isoform e
  KO
K23956  FERM and PDZ domain-containing protein 4
Organism
hsa  Homo sapiens (human)
Network
nt06544  Neuroactive ligand signaling
  Element
N01881  GRM1/5-interacting partners
Disease
H00480  X-linked intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    9758 (FRMPD4)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Other domain-containing proteins
  FERM domain-containing proteins
   9758 (FRMPD4)
SSDB
Motif
Pfam: FERM_M PDZ FERM_C_FAK1 PDZ_6 RA_2 PDZ_2 FERM_f0 WW T15H9-4_C
Other DBs
NCBI-GeneID: 9758
NCBI-ProteinID: NP_055543
OMIM: 300838
HGNC: 29007
UniProt: Q14CM0
Structure
LinkDB
Position
X:11822439..12724523
AA seq 1322 aa
MDVFSFVKIAKLSSHRTKSSGWPPPSGTWGLSQVPPYGWEMTANRDGRDYFINHMTQAIP
FDDPRLESCQIIPPAPRKVEMRRDPVLGFGFVAGSEKPVVVRSVTPGGPSEGKLIPGDQI
VMINDEPVSAAPRERVIDLVRSCKESILLTVIQPYPSPKSAFISAAKKARLKSNPVKVRF
SEEVIINGQVSETVKDNSLLFMPNVLKVYLENGQTKSFRFDCSTSIKDVILTLQEKLSIK
GIEHFSLMLEQRTEGAGTKLLLLHEQETLTQVTQRPSSHKMRCLFRISFVPKDPIDLLRR
DPVAFEYLYVQSCNDVVQERFGPELKYDIALRLAALQMYIATVTTKQTQKISLKYIEKEW
GLETFLPSAVLQSMKEKNIKKALSHLVKANQNLVPPGKKLSALQAKVHYLKFLSDLRLYG
GRVFKATLVQAEKRSEVTLLVGPRYGISHVINTKTNLVALLADFSHVNRIEMFSEEESLV
RVELHVLDVKPITLLMESSDAMNLACLTAGYYRLLVDSRRSIFNMANKKNTATQETGPEN
KGKHNLLGPDWNCIPQMTTFIGEGEQEAQITYIDSKQKTVEITDSTMCPKEHRHLYIDNA
YSSDGLNQQLSQPGEAPCEADYRSLAQRSLLTLSGPETLKKAQESPRGAKVSFIFGDFAL
DDGISPPTLGYETLLDEGPEMLEKQRNLYIGSANDMKGLDLTPEAEGIQFVENSVYANIG
DVKSFQAAEGIEEPLLHDICYAENTDDAEDEDEVSCEEDLVVGEMNQPAILNLSGSSDDI
IDLTSLPPPEGDDNEDDFLLRSLNMAIAAPPPGFRDSSDEEDSQSQAASFPEDKEKGSSL
QNDEIPVSLIDAVPTSAEGKCEKGLDNAVVSTLGALEALSVSEEQQTSDNSGVAILRAYS
PESSSDSGNETNSSEMTESSELATAQKQSENLSRMFLATHEGYHPLAEEQTEFPASKTPA
GGLPPKSSHALAARPATDLPPKVVPSKQLLHSDHMEMEPETMETKSVTDYFSKLHMGSVA
YSCTSKRKSKLADGEGKAPPNGNTTGKKQQGTKTAEMEEEASGKFGTVSSRDSQHLSTFN
LERTAFRKDSQRWYVATEGGMAEKSGLEAATGKTFPRASGLGAREAEGKEEGAPDGETSD
GSGLGQGDRFLTDVTCASSAKDLDNPEDADSSTCDHPSKLPEADESVARLCDYHLAKRMS
SLQSEGHFSLQSSQGSSVDAGCGTGSSGSACATPVESPLCPSLGKHLIPDASGKGVNYIP
SEERAPGLPNHGATFKELHPQTEGMCPRMTVPALHTAINTEPLFGTLRDGCHRLPKIKET
TV
NT seq 3969 nt   +upstreamnt  +downstreamnt
atggatgtcttcagctttgtgaagattgcaaagctttcgagccacaggacgaagtcttca
ggctggccgcctccctcgggaacctggggcttgagccaggtgccgccctatggatgggag
atgacggcaaaccgagatgggcgagactacttcatcaatcacatgacacaggcaatccct
tttgacgaccctcggttagagagctgccaaatcatccctccggctcctcggaaggtggag
atgagaagggaccccgtgctgggatttggttttgtggcaggcagtgaaaagccagtggtc
gttcgctcagtaacaccaggtggcccctctgaaggcaagctgatcccgggagatcagatt
gtaatgattaatgatgaaccggtcagcgctgcacccagagagcgggtcatcgatctggtc
agaagctgcaaagaatcgatactcctcactgtcattcagccttacccttctcccaaatca
gcatttattagtgctgcaaaaaaggcaagattaaagtccaatcctgtcaaagtacgcttc
tctgaggaggtcatcatcaacggccaagtgtcggaaactgttaaggacaactcacttctt
tttatgccaaatgttttgaaagtctatctggaaaatgggcagaccaaatcatttcgtttt
gactgcagcacttccattaaggatgtcatcttaacccttcaagagaagctctccatcaaa
ggcattgaacacttctctctcatgctggagcagaggacagaaggggctggaacgaagctg
ctcttgcttcatgaacaggagactctaactcaggtgacacagaggcccagctcccataag
atgagatgtcttttccgaattagcttcgtcccaaaagatccaattgaccttttaaggaga
gatccagttgctttcgagtatctctatgttcagagttgtaacgatgtggttcaggagcga
tttgggccggagctgaaatatgacatagccctgcggctggccgcattacaaatgtacatt
gcaaccgttaccaccaagcaaacgcagaaaatctccctcaaatacatcgaaaaagaatgg
ggattagagacttttcttccctctgctgtgctgcaaagcatgaaagagaagaacataaag
aaagcactttcacaccttgtcaaagcaaatcaaaacttggtaccaccgggtaaaaagctc
tctgcactacaagccaaggtccattatctcaagttcctcagtgacctacgattgtatggg
ggccgtgtgttcaaggcaacattagtgcaggcagaaaagcgctcggaagtgactctcctg
gttgggccccggtatggcataagccatgtcatcaacaccaaaaccaatctggtggctctt
ttagccgactttagccacgtcaacaggatcgaaatgttttccgaggaggagagcttggtg
cgggtagaactccacgtgctagatgtgaagcctatcacgcttctgatggaatcctcagat
gccatgaacctggcctgcttgacggctggatactaccggctgcttgttgattccaggagg
tcgatatttaacatggccaacaagaaaaacacagcgacccaggaaacaggacctgaaaac
aaggggaagcataacctccttggcccagattggaactgtataccccaaatgaccaccttt
attggcgaaggggaacaagaagcccagataacatacatagattcaaagcagaagacggtg
gagatcacagacagcaccatgtgtccaaaagagcaccggcacttgtacatagacaatgcc
tatagttcagatggacttaaccagcagctgagccagcccggggaggccccctgtgaggca
gactacagaagtctagctcagcggtccctattgaccctctcaggaccagaaactctgaag
aaagcacaggaatctccgagaggagctaaagtgtcctttatttttggagacttcgccttg
gatgatggtattagtcccccaacccttggctatgaaacgctactagatgagggtcctgaa
atgctggagaagcagagaaatctctacattggcagtgccaatgacatgaagggcctggat
ctcactccagaggcagagggcatccagtttgtggaaaattctgtttatgcaaacataggc
gatgtgaagagcttccaggccgcggaggggatcgaggaacccctcttgcatgacatctgt
tatgcagaaaacactgatgacgcggaggacgaggacgaggtgagctgcgaggaggacctc
gtggtgggggagatgaaccagccggccatcctcaacctgtctgggtcaagcgatgacatc
attgacctcacatccctgccccctccagaaggtgatgacaatgaggatgacttcctgttg
cgttccttgaacatggccattgccgcacccccacctggctttagagacagttcagatgaa
gaggactctcagagccaggcagcttccttccccgaggacaaggagaaaggcagcagcctg
caaaatgatgagatccccgtgtccctcattgacgctgtgcccaccagcgccgaaggcaag
tgtgagaagggactggataatgccgtcgtctccacgctgggagctctagaggctctatcc
gtgtcagaagaacagcagaccagtgacaattcaggtgtagccatcttgcgggcttatagt
cctgagtcttcgtcagactcgggcaatgaaactaactcttctgaaatgactgagagttct
gaactggccacagcacaaaaacagtcagaaaacctctcccgcatgttcttggccactcac
gaaggctaccacccccttgcagaagagcagaccgagttcccggcctccaagacccccgct
gggggcttgcctccaaagtcctcgcacgccctggctgctaggccagcaaccgacctcccg
cccaaagttgtgccttccaagcagttacttcactcagaccacatggagatggagcctgaa
actatggagactaagtcggtcactgactattttagcaaactgcacatggggtcggtggca
tactcctgcactagcaaaaggaaaagcaagctggccgatggtgaggggaaggcaccccct
aatgggaacacaacaggaaaaaaacagcaggggaccaaaacggcagagatggaggaggag
gccagtggtaaatttggtactgtgtcttcacgagacagtcaacacctgagcacttttaat
ctggagagaactgcctttcgcaaggacagtcaaagatggtatgtggccactgaaggtggg
atggctgaaaaaagtggattagaagcagcaacagggaaaacctttccaagagcttctggt
cttggggcaagggaggccgaagggaaggaagaaggagctcctgatggagaaaccagtgat
ggctcaggacttggtcaaggggaccgcttcttaactgacgtgacctgtgcatcttcagcc
aaagacttagataacccagaggacgctgactcgtccacctgcgaccatccttccaagctt
cctgaggctgatgagagtgtggcccgcctttgtgactaccacttggccaagcggatgtca
tcactgcaaagcgagggccatttttctctgcagagctcccaaggctcttcagtggatgca
ggctgtggcacaggcagcagtggcagtgcctgtgccacacccgtggagtcgccgctctgc
ccctccctggggaagcacttgattcctgacgcttctgggaaaggcgtgaattacattcct
tcagaggagagagcccctgggcttcccaaccacggagccacctttaaggaactgcaccca
cagacagaagggatgtgtccacggatgacagtgcctgctctgcacacagccattaacacc
gaacccctgtttggcacattgagagatggatgccatcggctccccaagattaaggaaacc
acagtgtag

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