SNTB1 - syntrophin beta 1 Gene

Also Known as A1B; SNT2; BSYN2; 59-DAP; DAPA1B; SNT2B1; TIP-43

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6641

About SNTB1

Cytogenetic location: 8q24.12 Genomic coordinates (GRCh38): 8:120,535,756-120,812,046 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues and 4 paralogues. Broad expression in thyroid (RPKM 41.8), adrenal (RPKM 32.7) and 22 other tissues.

Summary

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 this gene is a peripheral membrane protein found associated with Dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two Other structurally-related genes. [provided by RefSeq, Jul 2008]

SNTB1 Products (1)

mRNA Protein Name
NM_021021.4 NP_066301.1 beta-1-syntrophin
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
7844150 GOA
Cellular Component GO Annotation Evidence References Source
part of protein-containing complex IDA
IDA: Inferred from direct assay
18468998 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNTB1 Protein Structure

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (115 - 191)

PH

PH: PH domain (325 - 431)

  • 0
  • 100
  • 200
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  • 500
  • 538 a.a.
Protein Preferred Names Protein Names

beta-1-syntrophin

  • 59 kDa dystrophin-associated protein A1 basic component 1

SNTB1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SNTB1 Q13884 DMD Homo sapiens P11532 7844150
Intra
SNTB1 Q13884 ABCA1 Homo sapiens O95477 16192269
Intra
SNTB1 Q13884 ABCA1 Homo sapiens O95477 16192269
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Muscular Dystrophy
  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy

Muscular Dystrophy, Duchenne Type
  • Duchenne Muscular Dystrophy

  • DMD

  • Muscular Dystrophy, Duchenne

  • Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

  • Severe Dystrophinopathy, Duchenne Type

  • Muscular Dystrophy Duchenne

  • Dystrophy, Muscular, Duchenne Type

  • Benign Duchenne Muscular Dystrophy

  • Duchenne Motor Neuron Disease

  • Duchenne Type Dystrophy

  • Duchenne-Griesinger Disease

Myopia
  • Near-Sightedness

  • Short-Sightedness

  • Nearsightedness

  • Nearsighted

  • Near Vision

  • Close Sighted

  • Myopic

  • Short-Sighted

  • Near Sighted

Myopathy
  • Muscular Diseases

  • Myopathies

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus SNTB1 VGNC VGNC:59366
Rattus norvegicus SNTB1 RGD RGD:1307728
Canis familiaris SNTB1 VGNC VGNC:46613
Macaca mulatta SNTB1 VGNC VGNC:77680
Mus musculus SNTB1 MGD MGI:101781
Others SNTB1 NCBI