Homo sapiens (human): 6640
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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
nt06539
Cytoskeleton in muscle cells
Element
N00465
Deleted DMD to dystrophin-associated protein complex
N01816
Costamere
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Syntrophin_4th
PH_17
PDZ
PH
PDZ_6
PDZ_2
Motif
Other DBs
NCBI-GeneID:
6640
NCBI-ProteinID:
NP_003089
OMIM:
601017
HGNC:
11167
Ensembl:
ENSG00000101400
Pharos:
Q13424
(Tbio)
UniProt:
Q13424
LinkDB
All DBs
Position
20:complement(33407957..33443763)
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AA seq
505 aa
AA seq
DB search
MASGRRAPRTGLLELRAGAGSGAGGERWQRVLLSLAEDVLTVSPADGDPGPEPGAPREQE
PAQLNGAAEPGAGPPQLPEALLLQRRRVTVRKADAGGLGISIKGGRENKMPILISKIFKG
LAADQTEALFVGDAILSVNGEDLSSATHDEAVQVLKKTGKEVVLEVKYMKDVSPYFKNST
GGTSVGWDSPPASPLQRQPSSPGPTPRNFSEAKHMSLKMAYVSKRCTPNDPEPRYLEICS
ADGQDTLFLRAKDEASARSWATAIQAQVNTLTPRVKDELQALLAATSTAGSQDIKQIGWL
TEQLPSGGTAPTLALLTEKELLLYLSLPETREALSRPARTAPLIATRLVHSGPSKGSVPY
DAELSFALRTGTRHGVDTHLFSVESPQELAAWTRQLVDGCHRAAEGVQEVSTACTWNGRP
CSLSVHIDKGFTLWAAEPGAARAVLLRQPFEKLQMSSDDGASLLFLDFGGAEGEIQLDLH
SCPKTIVFIIHSFLSAKVTRLGLLA
NT seq
1518 nt
NT seq
+upstream
nt +downstream
nt
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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