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
Pharos: Q13884(Tbio)
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

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