STAP1 - signal transducing adaptor family member 1 Gene

Homo sapiens

Also known as BRDG1; STAP-1

Gene ID: 26228 | Gene type: protein coding

About STAP1

Cytogenetic location: 4q13.2 Genomic coordinates (GRCh38): 4:67,558,727-67,607,337 (from NCBI)

This gene has 2 transcripts (splice variants), 153 orthologues, 1 paralogue and is associated with 1 phenotype. Biased expression in lymph node (RPKM 15.1), appendix (RPKM 6.5) and 5 other tissues.

Summary

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]

STAP1 Products(2)

mRNA	Protein	Name
NM_001317769.2	NP_001304698.1	signal-transducing adaptor protein 1
NM_012108.4	NP_036240.1	signal-transducing adaptor protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables phosphotyrosine residue binding	IPI IPI: Inferred from physical interaction	20442417	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15090612	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	10518561	GOA
enables protein tyrosine kinase activator activity	IDA IDA: Inferred from direct assay	10518561	GOA
enables signaling adaptor activity	IPI IPI: Inferred from physical interaction	10518561	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of B cell receptor signaling pathway	IDA IDA: Inferred from direct assay	10518561	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17936702	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	17936702	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17936702	GOA
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

STAP1 Protein Structure

SH2

0
100
200
295 a.a.

Protein Preferred Names

Protein Names

signal-transducing adaptor protein 1

BCR downstream-signaling protein 1

Related Diseases

Diseases

Alias

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Hypercholesterolemia, Familial, 1

Hypercholesterolemia	FHCL1
Fhc	Fh
Hyperlipoproteinemia, Type Ii	Hyperlipoproteinemia, Type Iia
Hyper-Low-Density-Lipoproteinemia	Hypercholesterolemic Xanthomatosis, Familial
Ldl Receptor Disorder	Hypercholesterolemia, Susceptibility To
Hypercholesterolemia, Familial, Modifier Of	Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of
Ldl Cholesterol Level Qtl2	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial, Type 1	High Cholesterol
Increased Cholesterol	Low-Density-Lipoid-Type Hyperlipoproteinemia
Pure Hypercholesterolaemia	Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia
Group A Hyperlipidaemia	Pure Hypercholesterinaemia
Cholesterolaemia	Essential Cholesterolaemia
Essential Hypercholesterolaemia	Group A Hyperlipemia
Increased Low Density Lipoprotein	Low-Density-Lipoprotein-Type
Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Sea-Blue Histiocyte Disease

Sea-Blue Histiocytosis	Sea-Blue Histiocyte Syndrome
Histiocytosis, Sea-Blue	Inherited Lipemic Splenomegaly
SBHD

Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive	Arh
FHCL4	Autosomal Recessive Hypercholesterolemia
Arh1	Arh2
Autosomal Recessive Hypercholesterolemia 1	Autosomal Recessive Hypercholesterolemia 2
Fhcb1	Fhcb2
Hypercholesterolemia, Autosomal Recessive, 1, Formerly	Arh1, Formerly
Fhcb1, Formerly	Hypercholesterolemia, Autosomal Recessive, 2, Formerly
Arh2, Formerly	Fhcb2, Formerly
Familial Autosomal Recessive Hypercholesterolemia	Hypercholesterolemia, Familial, Autosomal Recessive
Hypercholesterolemia, Familial, Type 4

Arcus Corneae

Arcus Senilis	Corneal Arcus
Arcus Of Cornea

Cholesterol Ester Storage Disease

Lysosomal Acid Lipase Deficiency

Wolman Disease	Cholesteryl Ester Storage Disease
Lal Deficiency	Lipa Deficiency
Cholesterol Ester Storage Disease	CESD
Cholesterol Ester Hydrolase Deficiency	Acid Lipase Deficiency
Acid Esterase Deficiency	Familial Xanthomatosis
Wolman Xanthomatosis	Wolman'S Disease
Wolman'S Or Triglyceride Storage Type Iii Disease	Xanthomatosis, Familial
Liposomal Acid Lipase Deficiency, Wolman Type	Familial Visceral Xanthomatosis
Primary Familial Xanthomatosis	Primary Familial Xanthomatosis With Adrenal Calcification
Acid Lipase Disease	WOD
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Sitosterolemia

Phytosterolemia	Beta-Sitosterolemia
Plant Sterol Storage Disease	Phytosterolæmia
Sitosterolæmia	Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body
Phytosterolaemia	Sitosterolaemia
Sitosterolemia With Xanthomatosis

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13873	STAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	STAP1	VGNC	VGNC:46878
Rattus norvegicus	STAP1	RGD	RGD:1311584
Mus musculus	STAP1	MGD	MGI:1926193
Bos taurus	STAP1	VGNC	VGNC:35358
Macaca mulatta	STAP1	VGNC	VGNC:77983
Felis catus	STAP1	VGNC	VGNC:80011

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