SNTB1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
SNTB1
Official Name
syntrophin beta 1 [Source:HGNC Symbol;Acc:HGNC:11168]
Ensembl ID
ENSG00000172164
Bio databases IDs NCBI: 6641 Ensembl: ENSG00000172164
Aliases syntrophin beta 1, tax interaction protein 43
Synonyms 59-DAP, A1B, BSYN2, DAPA1B, Dystrophin associated protein a1, LOC107986874, SNT2, SNT2B1, syntrophin, basic 1, Syntrophin beta 1, syntrophin, beta 1, Syntrophin β 1, syntrophin, β 1, TIP-43
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SNTB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Domain present in PSD-95, Dlg, and ZO-1/2
  • myristoylation sequence
  • PH domain
  • canonical PDZ domain
  • protein binding
  • Pleckstrin homology-like domain
  • PDZ domain
  • PDZ-domain binding

Pathways

Biological processes and signaling networks where the SNTB1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • non-insulin-dependent diabetes mellitus
  • preeclampsia
  • lip and oral cavity carcinoma
  • lip cancer
  • overall survival
  • small cell lung cancer
  • pathologic myopia
  • colorectal cancer
  • refractive error
regulated by
regulates
role in cell
  • transformation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • Cytoplasm
  • cellular membrane
  • microsome
  • neuromuscular junctions
  • synapse
  • sarcolemma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SNTB1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • muscle contraction

Cellular Component

Where in the cell the gene product is active
  • cytoskeleton
  • focal adhesion
  • cytoplasm
  • sarcolemma
  • dystrophin-associated glycoprotein complex
  • macromolecular complex
  • synapse
  • intracellular

Molecular Function

What the gene product does at the molecular level
  • calmodulin binding
  • protein binding
  • actin binding
  • PDZ domain binding
  • structural molecule activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.