STAP1

Name

signal transducing adaptor family member 1

Type

protein-coding

Position

67,558,482–67,607,343 (+)

Aliases

BRDG1, STAP-1

Ensembl

ENSG00000035720

RefSeq RNA

NM_001317769.2, NM_012108.4

RefSeq protein

NP_001304698.1, NP_036240.1

The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].

via MyGene.info

Gene · Ensembl

signal transducing adaptor family member 1

Symbol

STAP1

Biotype

Protein coding

Organism

Homo sapiens

Location

4:67,558,482-67,607,343

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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