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
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)
SSDB
Motif
Pfam: Syntrophin_4th PH_17 PDZ PH PDZ_6 PDZ_2
Other DBs
NCBI-GeneID: 6640
NCBI-ProteinID: NP_003089
OMIM: 601017
HGNC: 11167
Ensembl: ENSG00000101400
UniProt: Q13424
LinkDB
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

KEGG   Homo sapiens (human): 6641
Entry
6641              CDS       T01001                                 
Symbol
SNTB1, 59-DAP, A1B, BSYN2, DAPA1B, SNT2, SNT2B1, TIP-43
Name
(RefSeq) syntrophin beta 1
  KO
K24064  beta-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
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    6641 (SNTB1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    6641 (SNTB1)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    6641 (SNTB1)
   05414 Dilated cardiomyopathy
    6641 (SNTB1)
   05416 Viral myocarditis
    6641 (SNTB1)
SSDB
Motif
Pfam: Syntrophin_4th PH_17 PH PDZ PDZ_2 PDZ_6 SOS1_NGEF_PH
Other DBs
NCBI-GeneID: 6641
NCBI-ProteinID: NP_066301
OMIM: 600026
HGNC: 11168
Ensembl: ENSG00000172164
UniProt: Q13884
Structure
LinkDB
Position
8:complement(120535756..120812046)
AA seq 538 aa
MAVAAAAAAAGPAGAGGGRAQRSGLLEVLVRDRWHKVLVNLSEDALVLSSEEGAAAYNGI
GTATNGSFCRGAGAGHPGAGGAQPPDSPAGVRTAFTDLPEQVPESISNQKRGVKVLKQEL
GGLGISIKGGKENKMPILISKIFKGLAADQTQALYVGDAILSVNGADLRDATHDEAVQAL
KRAGKEVLLEVKYMREATPYVKKGSPVSEIGWETPPPESPRLGGSTSDPPSSQSFSFHRD
RKSIPLKMCYVTRSMALADPENRQLEIHSPDAKHTVILRSKDSATAQAWFSAIHSNVNDL
LTRVIAEVREQLGKTGIAGSREIRHLGWLAEKVPGESKKQWKPALVVLTEKDLLIYDSMP
RRKEAWFSPVHTYPLLATRLVHSGPGKGSPQAGVDLSFATRTGTRQGIETHLFRAETSRD
LSHWTRSIVQGCHNSAELIAEISTACTYKNQECRLTIHYENGFSITTEPQEGAFPKTIIQ
SPYEKLKMSSDDGIRMLYLDFGGKDGEIQLDLHSCPKPIVFIIHSFLSAKITRLGLVA
NT seq 1617 nt   +upstreamnt  +downstreamnt
atggcggtagcggcggcggcggcggcggctgggccggctggcgcgggaggcggccgggcg
cagcggagcgggctgctggaagttttggtgcgggatcgctggcacaaagttctggtgaac
ttgagcgaggacgccctggttctgagcagcgaggagggcgctgcggcgtacaacggcatc
gggaccgccaccaatggctcgttctgcaggggcgccggggctgggcacccgggcgcgggc
ggcgcgcagcccccggactcgcccgccggggtccgcaccgctttcaccgacctgcccgag
caggtgcccgagtccatctcgaaccagaagcgtggcgtgaaggtgctgaagcaggagctg
ggcgggctggggatcagcatcaaggggggcaaggagaacaagatgcccatcctcatcagc
aagatcttcaaggggctggcggcggaccagacccaagccctgtacgtgggcgacgccatc
ctgtccgtgaacggagccgacctgcgggacgccacccacgacgaggcggtgcaggcgttg
aagcgcgcgggcaaggaagtgctgctggaagtgaagtacatgcgagaagccacgccctat
gtgaagaaaggatccccagtatccgagattgggtgggaaacacctccgcctgaatcccct
cggttagggggcagcacctcagaccccccgtcatcgcagtccttctccttccacagagac
cggaaaagcatccccctcaaaatgtgctacgtcactcggagtatggccttggccgaccct
gagaacaggcagcttgaaatccactctccagatgctaagcacacggtgatcctaaggagc
aaggactcagccacggcccaggcatggttcagtgccatccattccaacgttaatgacctg
ctgacccgagtgattgctgaggtcagagagcagctggggaaaacaggcattgctgggagc
cgagagattaggcatcttggctggcttgcagaaaaggtgccaggggagagcaagaaacag
tggaaaccagccctggttgtgctgactgagaaagaccttttaatctatgacagcatgcca
cggaggaaggaagcctggttcagcccagttcacacataccctcttcttgccaccaggctg
gtccattcaggtccaggaaagggatcaccccaggctggtgtggatctgtcctttgcaacg
cgaactggtaccaggcaagggattgaaacacatctcttcagagcagagaccagcagggac
ctctcccactggacaaggagcatagtacagggttgccacaattctgctgaactcattgct
gaaatcagcactgcttgcacctacaaaaaccaggagtgccgtttgaccatacattatgag
aatggattttctattaccactgaaccacaggagggtgcctttcccaagaccatcatacag
tctccttatgaaaagctcaaaatgtcttcagatgatggaatcaggatgctgtatttagat
tttggaggcaaagatggagagattcaactggaccttcattcctgccccaagccaattgtt
ttcatcattcattccttcctgtcagctaagattacaagactgggcttggtggcctga

KEGG   Homo sapiens (human): 6645
Entry
6645              CDS       T01001                                 
Symbol
SNTB2, D16S2531E, EST25263, SNT2B2, SNT3, SNTL
Name
(RefSeq) syntrophin beta 2
  KO
K24064  beta-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
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    6645 (SNTB2)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    6645 (SNTB2)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    6645 (SNTB2)
   05414 Dilated cardiomyopathy
    6645 (SNTB2)
   05416 Viral myocarditis
    6645 (SNTB2)
SSDB
Motif
Pfam: Syntrophin_4th PH_17 PDZ PH PDZ_6 PDZ_2
Other DBs
NCBI-GeneID: 6645
NCBI-ProteinID: NP_006741
OMIM: 600027
HGNC: 11169
Ensembl: ENSG00000168807
UniProt: Q13425
Structure
LinkDB
Position
16:69187164..69309052
AA seq 540 aa
MRVAAATAAAGAGPAMAVWTRATKAGLVELLLRERWVRVVAELSGESLSLTGDAAAAELE
PALGPAAAAFNGLPNGGGAGDSLPGSPSRGLGPPSPPAPPRGPAGEAGASPPVRRVRVVK
QEAGGLGISIKGGRENRMPILISKIFPGLAADQSRALRLGDAILSVNGTDLRQATHDQAV
QALKRAGKEVLLEVKFIREVTPYIKKPSLVSDLPWEGAAPQSPSFSGSEDSGSPKHQNST
KDRKIIPLKMCFAARNLSMPDLENRLIELHSPDSRNTLILRCKDTATAHSWFVAIHTNIM
ALLPQVLAELNAMLGATSTAGGSKEVKHIAWLAEQAKLDGGRQQWRPVLMAVTEKDLLLY
DCMPWTRDAWASPCHSYPLVATRLVHSGSGCRSPSLGSDLTFATRTGSRQGIEMHLFRVE
THRDLSSWTRILVQGCHAAAELIKEVSLGCMLNGQEVRLTIHYENGFTISRENGGSSSIL
YRYPFERLKMSADDGIRNLYLDFGGPEGELTMDLHSCPKPIVFVLHTFLSAKVTRMGLLV
NT seq 1623 nt   +upstreamnt  +downstreamnt
atgagggtagctgcggcgactgcggcggctggagcggggccggccatggcggtgtggacg
cgggccaccaaagcggggctggtggagctgctcctgagggagcgctgggtccgagtggtg
gccgagctgagcggggagagcctgagcctgacgggcgacgccgccgcggccgagctggag
cccgctctgggacccgcggccgccgccttcaacggcctcccaaacggcggcggcgcgggc
gactcgctgcccgggagcccaagccgcggcctggggcccccgagcccgccggcgccgcct
cggggccccgcgggtgaggcgggcgcgtcgccgcccgtgcgccgggtgcgggtggtgaag
caagaggcgggcggcctgggcatcagcatcaagggcggccgcgagaaccggatgccgatc
ctcatctccaagatcttccccgggctggctgccgaccagagccgggcgctgcggctgggc
gacgccatcctgtcggtgaacggcaccgacctgcgccaggccacccacgaccaggccgtg
caggcgctgaagcgcgcgggcaaggaggtgctgctggaggtcaagttcatccgagaagta
acaccatatatcaagaagccatcattagtatcagatctgccgtgggaaggtgcagccccc
cagtcaccaagctttagtggcagtgaggactctggttcgccaaaacaccagaacagcacc
aaggacaggaagatcatccctctcaaaatgtgctttgctgctagaaacctaagcatgccg
gatctggaaaacagattgatagagctacattctcctgatagcaggaacacgttgatccta
cgctgcaaagatacagccacagcacactcctggttcgtagctatccacaccaacataatg
gctctcctcccacaggtgttggctgaactcaacgccatgcttggggcaaccagtacagca
ggaggcagtaaagaggtgaagcatattgcctggctggcagaacaggcaaaactagatggt
ggaagacagcaatggagacctgtcctcatggctgtgactgagaaggatttgctgctctat
gactgtatgccgtggacaagagatgcctgggcgtcaccatgccacagctacccacttgtt
gccaccaggttggttcattctggctccggatgtcgatccccctcccttggatctgacctt
acatttgctaccaggacaggctctcgacagggcattgagatgcatctcttcagggtggag
acacatcgggatctgtcatcctggaccaggatacttgttcagggttgccatgctgctgct
gagctgatcaaggaagtctctctaggctgcatgttaaatggccaagaggtgaggcttact
attcactatgaaaatgggttcaccatctcaagggaaaatggaggctccagcagcatattg
taccgctacccctttgaaaggctgaagatgtctgctgatgatggcatccgaaatctatac
ttggattttggtggtcccgagggagaactgaccatggacctgcactcttgtccgaagccg
attgtatttgtgttgcacacgtttttatcggccaaagtcactcgtatgggactgcttgta
tga

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