1. Gene
  2. INPP5A - inositol polyphosphate-5-phosphatase A Gene

INPP5A - inositol polyphosphate-5-phosphatase A Gene

中文名称:肌醇多磷酸-5-磷酸酶 A

种属: Homo sapiens

同用名: 5PTASE

基因 ID: 3632 | 基因类型: protein coding

关于 INPP5A

Cytogenetic location: 10q26.3 Genomic coordinates (GRCh38): 10:132,537,787-132,783,480 (from NCBI)

This gene has 7 transcripts (splice variants) and 197 orthologues. Ubiquitous expression in heart (RPKM 7.6), testis (RPKM 4.7) and 25 other tissues.

功能概要

该基因编码的蛋白质是膜相关 I 型肌醇 1,4,5-三磷酸 (InsP3) 5-磷酸酶。 InsP3 5-磷酸酶水解 Ins (1,4,5) P3,动员细胞内钙并作为第二信使介导细胞对各种刺激的反应。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]

INPP5A 基因产物(2)

mRNA Protein Name
NM_001321042.2 NP_001307971.1 inositol polyphosphate-5-phosphatase A isoform b
NM_005539.5 NP_005530.3 inositol polyphosphate-5-phosphatase A isoform a

INPP5A 蛋白结构

Exo_endo_phos

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (15 - 373)

  • 0
  • 100
  • 200
  • 300
  • 412 a.a.
蛋白主名 其他名称

inositol polyphosphate-5-phosphatase A

43 kDa inositol polyphosphate 5-phophatase

重组 INPP5A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70834 INPP5A Protein, Human (HEK293, His) Q14642 (M1-V410) ≥95%

关联疾病

疾病名称 别名
Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Type 17

SCA17

Huntington Disease-Like 4

Hdl4

Olivopontocerebellar Atrophy V

Cerebelloparenchymal Disorder Ii

Opca5

Cpd2

Sca 17

Ataxia, Spinocerebellar, Type 17

Lowe Oculocerebrorenal Syndrome

Lowe Syndrome

Oculocerebrorenal Syndrome

OCRL

Oculocerebrorenal Syndrome Of Lowe

Ocrl1

Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

Lowe Disease

Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency

Cerebrooculorenal Syndrome

Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency

Lowe Oculo-Cerebro-Renal Dystrophy

Lowe Oculo-Cerebro-Renal Syndrome

Lowe Oculocerebrorenal Dystrophy

Low

Chromosome 11p Deletion Syndrome

Oculocerebrorenal Dystrophy

Cerebro-Oculorenal Dystrophy

Ocrl1 - [Oculocerebrorenal Syndrome]

Lowe-Terrey-Maclachlan Syndrome

Renal-Oculocerebrodystrophy

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus INPP5A RGD RGD:1306168
Bos taurus INPP5A VGNC VGNC:30210
Mus musculus INPP5A MGD MGI:2686961
Macaca mulatta INPP5A VGNC VGNC:73749
Canis familiaris INPP5A VGNC VGNC:42030
Felis catus INPP5A VGNC VGNC:67807
Others INPP5A NCBI