STAP1 - signal transducing adaptor family member 1 Gene

中文名称：信号转导适配器家族成员 1

种属: Homo sapiens

同用名: BRDG1; STAP-1

基因 ID: 26228 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质包含一个富含脯氨酸的区域、一个 pleckstrin 同源 (PH) 结构域和一个位于羧基末端一半的区域，与 Src 同源 2 (SH2) 结构域相似。该蛋白是酪氨酸蛋白激酶 Tec 的底物，它与酪氨酸蛋白激酶 Tec 的相互作用是磷酸化依赖性的。这种蛋白质被认为通过上调酪氨酸蛋白激酶 Tec 的活性参与正反馈回路。该基因的变异与常染色体显性遗传性高胆固醇血症 (ADH) 相关，ADH 的特征是低密度脂蛋白胆固醇水平升高和冠状血管疾病的风险增加。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 12 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables phosphotyrosine residue binding	IPI IPI: 通过物理相互作用推断	20442417	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15090612	GOA
enables protein kinase binding	IPI IPI: 通过物理相互作用推断	10518561	GOA
enables protein tyrosine kinase activator activity	IDA IDA: 通过直接分析推断	10518561	GOA
enables signaling adaptor activity	IPI IPI: 通过物理相互作用推断	10518561	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of B cell receptor signaling pathway	IDA IDA: 通过直接分析推断	10518561	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	17936702	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	17936702	GOA
located in nucleus	IDA IDA: 通过直接分析推断	17936702	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	18468998	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

STAP1 蛋白结构

SH2

0
100
200
295 a.a.

蛋白主名

其他名称

signal-transducing adaptor protein 1

BCR downstream-signaling protein 1

STAP1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	STAP1	Q9ULZ2	RETREG3	Homo sapiens	Q86VR2	Y2H Prey Pooling	32296183
种属内	STAP1	Q9ULZ2	RETREG3	Homo sapiens	Q86VR2	Y2H Array	32296183
种属内	STAP1	Q9ULZ2	q5jpt6_human	Homo sapiens	Q5JPT6	Validated Y2H	25416956
种属内	STAP1	Q9ULZ2	q5jpt6_human	Homo sapiens	Q5JPT6	Y2H Array	25416956
种属内	STAP1	Q9ULZ2	MET	Homo sapiens	P08581	FPS	24728074
种属内	STAP1	Q9ULZ2	KIT	Homo sapiens	P10721	FPS	24728074
种属内	STAP1	Q9ULZ2	SH3KBP1	Homo sapiens	Q96B97	Anti Tag CoIP	33961781
种属内	STAP1	Q9ULZ2	SH3KBP1	Homo sapiens	Q96B97	Anti Tag CoIP	28514442
种属内	STAP1	Q9ULZ2	SH3KBP1	Homo sapiens	Q96B97	Anti Tag CoIP	15090612
种属内	STAP1	Q9ULZ2	GAB1	Homo sapiens	Q13480	FPS	24728074
种属内	STAP1	Q9ULZ2	AR	Homo sapiens	P10275	FPS	24728074
种属内	STAP1	Q9ULZ2	GRIPAP1	Homo sapiens	Q4V328	Y2H Array	32296183
种属内	STAP1	Q9ULZ2	GRIPAP1	Homo sapiens	Q4V328	Y2H Prey Pooling	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13873	STAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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