• Gene id: 6641

Gene Summary

• Gene Symbol: SNTB1   Gene   UCSC   Ensembl
• Aliases: 59-DAP, A1B, BSYN2, DAPA1B, SNT2, SNT2B1, TIP-43
• Gene name: syntrophin beta 1
• Alternate names: beta-1-syntrophin, 59 kDa dystrophin-associated protein A1 basic component 1, dystrophin-associated protein A1, 59kD, basic component 1, syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1), syntrophin-2, tax interaction protein 43,
• Gene location: 8q24.12 (120812045: 120535755)     Exons: 8     NC_000008.11
• Gene summary(Entrez): Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by
• OMIM: 613883

Protein Summary

• Protein general information: Q13884  
  • Name: Beta 1 syntrophin (59 kDa dystrophin associated protein A1 basic component 1) (DAPA1B) (BSYN2) (Syntrophin 2) (Tax interaction protein 43) (TIP 43)
  • Length: 538  
  • Mass: 58061
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MAVAAAAAAAGPAGAGGGRAQRSGLLEVLVRDRWHKVLVNLSEDALVLSSEEGAAAYNGIGTATNGSFCRGAGAG
  HPGAGGAQPPDSPAGVRTAFTDLPEQVPESISNQKRGVKVLKQELGGLGISIKGGKENKMPILISKIFKGLAADQ
  TQALYVGDAILSVNGADLRDATHDEAVQALKRAGKEVLLEVKYMREATPYVKKGSPVSEIGWETPPPESPRLGGS
  TSDPPSSQSFSFHRDRKSIPLKMCYVTRSMALADPENRQLEIHSPDAKHTVILRSKDSATAQAWFSAIHSNVNDL
  LTRVIAEVREQLGKTGIAGSREIRHLGWLAEKVPGESKKQWKPALVVLTEKDLLIYDSMPRRKEAWFSPVHTYPL
  LATRLVHSGPGKGSPQAGVDLSFATRTGTRQGIETHLFRAETSRDLSHWTRSIVQGCHNSAELIAEISTACTYKN
  QECRLTIHYENGFSITTEPQEGAFPKTIIQSPYEKLKMSSDDGIRMLYLDFGGKDGEIQLDLHSCPKPIVFIIHS
  FLSAKITRLGLVA

• Structural information:
  • Protein Domains: (19..29-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (112..19-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (322..43-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (4-)
  • Interpro: IPR001478  IPR036034  IPR011993  IPR001849  IPR041428   IPR015482  
  • Prosite: PS50106 PS50003
  • CDD: cd01258
  • DIP: 466
  • STRING: ENSP00000378965
• Other Databases: GeneCards:  SNTB1  Malacards:  SNTB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045202	synapse	IBA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	IBA	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0016010	dystrophin-associated glycoprotein complex	TAS	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq