INPP5D - inositol polyphosphate-5-phosphatase D Gene

中文名称：肌醇多磷酸-5-磷酸酶 D

种属: Homo sapiens

同用名: SHIP; SHIP1; SHIP-1; hp51CN; SIP-145; p150Ship

基因 ID: 3635 | 基因类型: protein coding

关于 INPP5D

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:233,060,342-233,207,903 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 215 orthologues and 13 paralogues. Broad expression in lymph node (RPKM 33.2), spleen (RPKM 31.1) and 21 other tissues.

功能概要

该基因是肌醇多磷酸 5-磷酸酶 (INPP5) 家族的成员，编码一种具有 N 末端 SH2 结构域、肌醇磷酸酶结构域和两个 C 末端蛋白质相互作用结构域的蛋白质。这种蛋白质的表达仅限于造血细胞，其中它从胞质溶胶到质膜的移动是由酪氨酸磷酸化介导的。在质膜上，蛋白质水解磷脂酰肌醇 (3,4,5) -三磷酸和肌醇-1,3,4,5-四磷酸的 5' 磷酸，从而影响多个信号通路。该蛋白质也部分定位于细胞核，在那里它可能参与核肌醇磷酸信号传导过程。总的来说，该蛋白作为骨髓细胞增殖和存活的负调节剂发挥作用。该基因的突变与免疫系统的缺陷和癌症有关。编码蛋白 SHIP1 的缺陷与克罗恩病和溃疡性结肠炎等炎症性肠病有关。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2020 年 7 月]

This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol Phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Deficiencies in the encoded protein, SHIP1, have been associated with Inflammatory Bowel Disease types such as Crohn's Disease and Ulcerative Colitis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2020]

INPP5D 基因产物(2)

mRNA	Protein	Name
NM_001017915.3	NP_001017915.1	phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 isoform a
NM_005541.5	NP_005532.2	phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 isoform b

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	9148918	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

INPP5D 蛋白结构

Exo_endo_phos

0
200
400
600
810 a.a.

蛋白主名

其他名称

phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1

SH2 domain-containing inositol 5'-phosphatase 1

INPP5D 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
Intra	INPP5D	Q92835	KRT40	Homo sapiens	Q6A162	Y2H Array	25416956
Intra	INPP5D	Q92835	KRTAP10-9	Homo sapiens	P60411	Validated Y2H	25416956
Intra	INPP5D	Q92835	KRTAP10-9	Homo sapiens	P60411	Y2H Prey Pooling	25416956
Intra	INPP5D	Q92835	CD244	Homo sapiens	Q9BZW8	SPR	24642916
Intra	INPP5D	Q92835	SH3KBP1	Homo sapiens	Q96B97	Anti Tag CoIP	15090612
Intra	INPP5D	Q92835	KHDRBS3	Homo sapiens	O75525	Y2H Prey Pooling	25416956
Intra	INPP5D	Q92835	KHDRBS3	Homo sapiens	O75525	Y2H Array	25416956
Intra	INPP5D	Q92835	FCGR2B	Homo sapiens	P31994	SPR	24642916
Intra	INPP5D	Q92835	FCGR2B	Homo sapiens	P31994	Affinity Chrom	9148918
Intra	INPP5D	Q92835	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Prey Pooling	25416956
Intra	INPP5D	Q92835	KRT31	Homo sapiens	Q15323	Y2H Array	25416956

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

Crohn'S Disease

Crohn Disease	Pediatric Crohn'S Disease
Regional Enteritis	Crohn'S Disease Of Large Bowel
Granulomatous Colitis	Enteritis, Granulomatous
Enteritis	Crohn'S Disease Of Colon
Colitis, Granulomatous	Crohn'S Enteritis
Enteritis, Regional	Ileitis
Adenoviral Enteritis	Acute Gastroenteropathy Due To Norwalk Agent
Viral Gastroenteritis Due To Norwalk Agent	Winter Vomiting
Epidemic Winter Vomiting Disease	Small Round Structured Virus Enteritis
Epidemic Vomiting Syndrome	Epidemic Vomiting
Epidemic Nausea	Epidemic Viral Gastroenteritis Due To Norwalk Virus
Noroviral Enteritis	Crohn Disease Nos
Crohns	Cd - [Crohn'S Disease]
Regional Enteritis Of Bowel	Crohn'S Regional Enteritis
Cobble-Stone Appearance Of Intestine	Intestinal Ulcer And Erosion Due To Crohn Disease
Granulomatous Enteritis

Lymphoproliferative Syndrome

Lymphoproliferative Disorder	Lymphoproliferative Disorders
Lymphoproliferative Disorders, Susceptibility To

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic	JMML
Leukemia, Juvenile Myelomonocytic, Somatic	Juvenile Chronic Myelomonocytic Leukemia
Juvenile Chronic Myelogenous Leukemia	Leukemia, Myelomonocytic, Juvenile
Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Severe Congenital Neutropenia

Congenital Neutropenia	Neutropenia, Severe Congenital
Congenital Agranulocytosis	Infantile Genetic Agranulocytosis
Kostmann Disease	Kostmann'S Agranulocytosis
Kostmann'S Syndrome	Severe Infantile Genetic Neutropenia

Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1

Nasu-Hakola Disease	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy
Plosl	Nhd
Presenile Dementia With Bone Cysts	Plo-Sl
PLOSL1	Dementia, Prefrontal, With Bone Cysts
Dementia, Progressive, With Lipomembranous Polycystic Osteodysplasia	Brain-Bone-Fat Disease
Progressive Dementia With Lipomembranous Polycystic Osteodysplasia	Brain-Bone-Fat Disease

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia	Chronic Myelogenous Leukemia
CML	Chronic Granulocytic Leukemia
Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib	Chronic Myeloid Leukaemia
Chronic Granulocytic Leukaemia	Chronic Myelogenous Leukaemia
Myeloid Leukemia, Chronic	Leukemia, Chronic Myelogenous
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic	Cml - Chronic Myelogenous Leukemia
Cgl	Chronic Myelocytic Leukemia
Leukemia, Chronic Myeloid, Atypical	ACML
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative	Myeloid Leukemia Chronic
Leukemia, Myeloid, Chronic	Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative
Cml- [Chronic Myeloid Leukaemia]	Cgl - [Chronic Granulocytic Leukaemia]
Chronic Myelocytic Leukaemia

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-RS06829	INPP5D Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	INPP5D	VGNC	VGNC:67809
Mus musculus	INPP5D	MGD	MGI:107357
Bos taurus	INPP5D	VGNC	VGNC:30212
Macaca mulatta	INPP5D	VGNC	VGNC:73751
Canis familiaris	INPP5D	VGNC	VGNC:42032
Rattus norvegicus	INPP5D	RGD	RGD:2914

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