KEGG   Homo sapiens (human): 6640
Entry
6640              CDS       T01001                                 
Symbol
SNTA1, LQT12, SNT1, TACIP1, dJ1187J4.5
Name
(RefSeq) syntrophin alpha 1
  KO
K24063  alpha-syntrophin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05416  Viral myocarditis
Network
  Element
N00465  Deleted DMD to dystrophin-associated protein complex
Disease
H00720  Long QT syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    6640 (SNTA1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    6640 (SNTA1)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    6640 (SNTA1)
   05414 Dilated cardiomyopathy
    6640 (SNTA1)
   05416 Viral myocarditis
    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
UniProt: Q13424
Position
20:complement(33407957..33443763)
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

  All links  
Ontology (1)   
   KEGG BRITE (1)   
Pathway (5)   
   KEGG PATHWAY (5)   
Network (1)   
   KEGG NETWORK (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
Protein sequence (11)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (25)   
   RefSeq(nuc) (9)   
   GenBank (8)   
   EMBL (8)   
Protein domain (6)   
   Pfam (6)   
All databases (72)   

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