KEGG   Homo sapiens (human): 6640
Entry
6640              CDS       T01001                                 

Gene name
SNTA1, LQT12, SNT1, TACIP1, dJ1187J4.5
Definition
(RefSeq) syntrophin alpha 1
  KO
K24063  alpha-syntrophin
Organism
hsa  Homo sapiens (human)
Network
  Element
N00465  Deleted DMD to dystrophin-associated protein complex
Disease
H00720  Long QT syndrome
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]
    6640 (SNTA1)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 PDZ domain-containing proteins
  Other PDZ domain-containing proteins
   6640 (SNTA1)
SSDB
Motif
Pfam: PH_17 PDZ PH PDZ_6 PDZ_2 Tricorn_PDZ
Other DBs
NCBI-GeneID: 6640
NCBI-ProteinID: NP_003089
OMIM: 601017
HGNC: 11167
Ensembl: ENSG00000101400
Vega: OTTHUMG00000032259
Pharos: Q13424(Tbio)
UniProt: Q13424
LinkDB
Position
20q11.21
AA seq 505 aa
MASGRRAPRTGLLELRAGAGSGAGGERWQRVLLSLAEDVLTVSPADGDPGPEPGAPREQE
PAQLNGAAEPGAGPPQLPEALLLQRRRVTVRKADAGGLGISIKGGRENKMPILISKIFKG
LAADQTEALFVGDAILSVNGEDLSSATHDEAVQVLKKTGKEVVLEVKYMKDVSPYFKNST
GGTSVGWDSPPASPLQRQPSSPGPTPRNFSEAKHMSLKMAYVSKRCTPNDPEPRYLEICS
ADGQDTLFLRAKDEASARSWATAIQAQVNTLTPRVKDELQALLAATSTAGSQDIKQIGWL
TEQLPSGGTAPTLALLTEKELLLYLSLPETREALSRPARTAPLIATRLVHSGPSKGSVPY
DAELSFALRTGTRHGVDTHLFSVESPQELAAWTRQLVDGCHRAAEGVQEVSTACTWNGRP
CSLSVHIDKGFTLWAAEPGAARAVLLRQPFEKLQMSSDDGASLLFLDFGGAEGEIQLDLH
SCPKTIVFIIHSFLSAKVTRLGLLA
NT seq 1518 nt   +upstreamnt  +downstreamnt
atggcgtccggcaggcgcgccccgcgcaccgggctgctggagctgcgcgccggggcgggc
tcgggggccggcggcgagcgatggcagcgggtgctgctgagtctggcggaggacgtgctg
accgtgagccccgccgacggcgaccctggtcccgagcccggcgctccgcgggagcaggag
cccgcgcagctcaacggcgccgcggagccgggcgccgggcccccgcagctgccagaggcg
ctactgctccagcggcgccgcgtgacggtgcgcaaggccgacgccggtgggctgggcatc
agcatcaaaggcggccgggagaacaagatgcctattctcatttccaagatcttcaaggga
ttggcagctgaccagacagaggccctttttgtgggggatgccatcctgtctgtgaatggg
gaagacttgtcctctgctacccatgatgaggcggtgcaggtcctcaagaagacaggcaag
gaggtggtgctggaggtcaagtatatgaaggacgtctcaccgtatttcaagaactctact
ggtgggacctcggtcggctgggactcacctcctgcctcaccccttcagcggcagccttcc
tcccctggccccacaccccggaacttcagcgaggccaaacacatgtccttgaagatggca
tatgtctcgaagaggtgcacccccaatgacccggagcccaggtatctggagatctgctcg
gcagatggtcaagacaccctcttcctgagggccaaggatgaggctagtgcgaggtcgtgg
gcgactgccatccaagcccaggtcaatactctgacgccgcgggtcaaggatgagctgcag
gcactgttggcagccaccagcacagctgggagccaggacatcaagcagattggctggcta
actgagcagctgcccagtgggggcacagcccccaccctggccctgctaactgaaaaggaa
ctgctcctctacttgtctctccccgagacccgcgaggccctgagccggccagcccgtact
gccccactcatcgccaccagactggtgcactcaggcccctccaagggctcagtgccctac
gatgcagagctctcttttgccctgcgcacgggcacgcgtcacggtgtggacactcacctg
ttcagcgtggagtcaccgcaggagctggctgcctggacccgccagcttgtggatggctgt
caccgggccgccgagggtgtgcaggaggtgtctacagcctgcacgtggaatgggcgtccc
tgcagcctgtctgtgcacatcgacaagggcttcacactgtgggcggctgagccaggtgca
gcccgagctgtgctcctgcgacagcccttcgagaagctgcagatgtcttcagatgacggt
gccagtctccttttcctggattttggaggtgctgaaggcgagatccagctggacctgcac
tcgtgtcccaaaaccatagtcttcatcatccactccttcctgtcggccaaagtcacccgc
ctcgggctgttggcctag

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