1. Gene
  2. IPPK - inositol-pentakisphosphate 2-kinase Gene

IPPK - inositol-pentakisphosphate 2-kinase Gene

中文名称:肌醇五磷酸 2-激酶

种属: Homo sapiens

同用名: IP5K; IPK1; C9orf12; INSP5K2; bA476B13.1

基因 ID: 64768 | 基因类型: protein coding

关于 IPPK

Cytogenetic location: 9q22.31 Genomic coordinates (GRCh38): 9:92,613,183-92,670,131 (from NCBI)

This gene has 3 transcripts (splice variants) and 205 orthologues. Ubiquitous expression in skin (RPKM 15.1), esophagus (RPKM 8.3) and 24 other tissues.

功能概要

该基因编码的蛋白质是一种激酶,可使肌醇-1,3,4,5,6-五磷酸的第 2 位磷酸化,形成肌醇-1,2,3,4,5,6-六磷酸 (InsP6) 。 InsP6 具有多种功能,包括刺激 DNA 修复、胞吞作用和 mRNA 输出。[RefSeq 提供,2010 年 11 月]

The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]

IPPK 基因产物(1)

mRNA Protein Name
NM_022755.6 NP_073592.1 inositol-pentakisphosphate 2-kinase

IPPK 蛋白结构

Ins_P5_2-kin

Ins_P5_2-kin: Inositol-pentakisphosphate 2-kinase (13 - 458)

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  • 491 a.a.
蛋白主名 其他名称

inositol-pentakisphosphate 2-kinase

IPK1 homolog

关联疾病

疾病名称 别名
Lethal Congenital Contracture Syndrome 1

LCCS1

Multiple Contracture Syndrome, Finnish Type

Lccs

Lethal Autosomal Recessive Syndrome Of Multiple Congenital Contractures

Lethal Congenital Contracture Syndrome Type 1

Herva Disease

Multiple Contracture Syndrome Finnish Type

Contracture Syndrome, Lethal, Congenital, Type 1

Spastic Paraplegia 63, Autosomal Recessive

SPG63

Hereditary Spastic Paraplegia 63

Spastic Paraplegia 63

Autosomal Recessive Spastic Paraplegia 63

Autosomal Recessive Spastic Paraplegia Type 63

Paraplegia, Spastic, Type 63, Autosomal Recessive

Lethal Congenital Contracture Syndrome

Lccs

Lethal Congenital Contracture Syndrome 1

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
Macaca mulatta IPPK VGNC VGNC:73597
Mus musculus IPPK MGD MGI:1922928
Rattus norvegicus IPPK RGD RGD:1311271
Bos taurus IPPK VGNC VGNC:56974
Canis familiaris IPPK VGNC VGNC:42071