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STAP1 - signal transducing adaptor family member 1 Gene

Also Known as BRDG1; STAP-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26228

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	References	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	References	Source
involved in positive regulation of B cell receptor signaling pathway	IDA IDA: Inferred from direct assay	10518561	GOA

Cellular Component GO Annotation	Evidence	References	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

STAP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	STAP1	Q9ULZ2	RETREG3	Homo sapiens	Q86VR2	Y2H Prey Pooling	32296183
Intra	STAP1	Q9ULZ2	RETREG3	Homo sapiens	Q86VR2	Y2H Array	32296183
Intra	STAP1	Q9ULZ2	q5jpt6_human	Homo sapiens	Q5JPT6	Validated Y2H	25416956
Intra	STAP1	Q9ULZ2	q5jpt6_human	Homo sapiens	Q5JPT6	Y2H Array	25416956
Intra	STAP1	Q9ULZ2	MET	Homo sapiens	P08581	FPS	24728074
Intra	STAP1	Q9ULZ2	KIT	Homo sapiens	P10721	FPS	24728074
Intra	STAP1	Q9ULZ2	SH3KBP1	Homo sapiens	Q96B97	Anti Tag CoIP	33961781
Intra	STAP1	Q9ULZ2	SH3KBP1	Homo sapiens	Q96B97	Anti Tag CoIP	28514442
Intra	STAP1	Q9ULZ2	SH3KBP1	Homo sapiens	Q96B97	Anti Tag CoIP	15090612
Intra	STAP1	Q9ULZ2	GAB1	Homo sapiens	Q13480	FPS	24728074
Intra	STAP1	Q9ULZ2	AR	Homo sapiens	P10275	FPS	24728074
Intra	STAP1	Q9ULZ2	GRIPAP1	Homo sapiens	Q4V328	Y2H Array	32296183
Intra	STAP1	Q9ULZ2	GRIPAP1	Homo sapiens	Q4V328	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13873	STAP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS15591	UXT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20497	Stap1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27005	Stap1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	STAP1	NCBI