SNTB1

Last updated
SNTB1
Identifiers
Aliases SNTB1 , 59-DAP, A1B, BSYN2, DAPA1B, SNT2, SNT2B1, TIP-43, syntrophin beta 1
External IDs OMIM: 600026 MGI: 101781 HomoloGene: 9618 GeneCards: SNTB1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021021

NM_016667

RefSeq (protein)

NP_066301

NP_057876

Location (UCSC) Chr 8: 120.54 – 120.81 Mb Chr 15: 55.64 – 55.91 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Beta-1-syntrophin is a protein that in humans is encoded by the SNTB1 gene. [5] [6] [7]

Contents

Function

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. [7]

Interactions

SNTB1 has been shown to interact with Dystrophin. [8]

Related Research Articles

Dystrophin Rod-shaped cytoplasmic protein

Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere.

Utrophin

Utrophin is a protein that in humans is encoded by the UTRN gene.

Dystrobrevin is a protein that binds to dystrophin in the costamere of skeletal muscle cells. In humans, there are at least two isoforms of dystrobrevin, α-dystrobrevin and β-dystrobrevin.

CASK

Peripheral plasma membrane protein CASK is a protein that in humans is encoded by the CASK gene. This gene is also known by several other names: CMG 2, calcium/calmodulin-dependent serine protein kinase 3 and membrane-associated guanylate kinase 2.

PICK1

Protein Interacting with C Kinase - 1 is a protein that in humans is encoded by the PICK1 gene.

Actinin alpha 1

Alpha-actinin-1 is a protein that in humans is encoded by the ACTN1 gene.

Syntrophin, alpha 1

Alpha-1-syntrophin is a protein that in humans is encoded by the SNTA1 gene. Alpha-1 syntrophin is a signal transducing adaptor protein and serves as a scaffold for various signaling molecules. Alpha-1 syntrophin contains a PDZ domain, two Pleckstrin homology domain and a 'syntrophin unique' domain.

SGCB

Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.

GOPC

Golgi-associated PDZ and coiled-coil motif-containing protein is a protein that in humans is encoded by the GOPC gene.

Delta-sarcoglycan

Delta-sarcoglycan is a protein that in humans is encoded by the SGCD gene.

SNTB2

Beta-2-syntrophin is a protein that in humans is encoded by the SNTB2 gene.

InaD-like protein

InaD-like protein is a protein that in humans is encoded by the PATJ gene.

SGCG

Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene. The α to δ-sarcoglycans are expressed predominantly (β) or exclusively in striated muscle. A mutation in any of the sarcoglycan genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex. The disease-causing mutations in the α to δ genes cause disruptions within the dystrophin-associated protein (DAP) complex in the muscle cell membrane. The transmembrane components of the DAP complex link the cytoskeleton to the extracellular matrix in adult muscle fibres, and are essential for the preservation of the integrity of the muscle cell membrane.

DGKZ

Diacylglycerol kinase zeta is an enzyme that in humans is encoded by the DGKZ gene.

LIN7A

Lin-7 homolog A is a protein that in humans is encoded by the LIN7A gene.

LIN7B Protein-coding gene in humans

Lin-7 homolog B is a protein that in humans is encoded by the LIN7B gene.

SNTG1

Gamma-1-syntrophin is a protein that in humans is encoded by the SNTG1 gene.

MYOZ1

Myozenin-1 is a protein that in humans is encoded by the MYOZ1 gene.

DTNA

Dystrobrevin alpha is a protein that in humans is encoded by the DTNA gene.

DTNB

Beta dystrobrevin also known as DTNB is a protein which in humans is encoded by the DTNB gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000172164 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000060429 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM (Jun 1994). "Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24". Proc Natl Acad Sci U S A. 91 (10): 4446–50. doi:10.1073/pnas.91.10.4446. PMC   43802 . PMID   8183929.
  6. Rousset R, Fabre S, Desbois C, Bantignies F, Jalinot P (Mar 1998). "The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction with the PDZ domain of cellular proteins". Oncogene. 16 (5): 643–54. doi: 10.1038/sj.onc.1201567 . PMID   9482110.
  7. 1 2 "Entrez Gene: SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)".
  8. Ahn AH, Kunkel LM (Feb 1995). "Syntrophin binds to an alternatively spliced exon of dystrophin". J. Cell Biol. 128 (3): 363–71. doi:10.1083/jcb.128.3.363. PMC   2120343 . PMID   7844150.

Further reading