1. Gene
  2. PIP5K1B - phosphatidylinositol-4-phosphate 5-kinase type 1 beta Gene

PIP5K1B - phosphatidylinositol-4-phosphate 5-kinase type 1 beta Gene

中文名称:磷脂酰肌醇 4-磷酸 5-激酶 1 型

种属: Homo sapiens

同用名: MSS4; STM7

基因 ID: 8395 | 基因类型: protein coding

关于 PIP5K1B

Cytogenetic location: 9q21.11 Genomic coordinates (GRCh38): 9:68,705,240-69,009,176 (from NCBI)

This gene has 8 transcripts (splice variants), 275 orthologues and 6 paralogues. Broad expression in colon (RPKM 8.2), duodenum (RPKM 7.6) and 20 other tissues.

功能概要

预测可启用 1-phosphatidylinositol-4-phosphate 5-kinase 活性。预计参与磷脂酰肌醇 3-激酶信号的调节。预计在磷脂酰肌醇生物合成过程的上游或内部起作用。位于 uropod。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity. Predicted to be involved in regulation of phosphatidylinositol 3-kinase signaling. Predicted to act upstream of or within phosphatidylinositol biosynthetic process. Located in uropod. [provided by Alliance of Genome Resources, Apr 2022]

PIP5K1B 基因产物(7)

mRNA Protein Name
NM_001278253.2 NP_001265182.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3
NM_001376036.1 NP_001362965.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2
NM_001376037.1 NP_001362966.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2
NM_001376039.1 NP_001362968.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2
NM_001376040.1 NP_001362969.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3
NM_001376041.1 NP_001362970.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3
NM_003558.4 NP_003549.1 phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2

PIP5K1B 蛋白结构

PIP5K

PIP5K: Phosphatidylinositol-4-phosphate 5-Kinase (108 - 393)

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  • 540 a.a.
蛋白主名 其他名称

phosphatidylinositol 4-phosphate 5-kinase type-1 beta

PIP5K1-beta

关联疾病

疾病名称 别名
Friedreich Ataxia

Friedreich Ataxia 1

FRDA

Friedreich Ataxia With Retained Reflexes

Frda1

Fa

Friedreich'S Ataxia

Hereditary Spinal Ataxia

Fa1

Friedreich'S Tabes

Hereditary Spinal Sclerosis

Spinocerebellar Ataxia, Friedreich

Friedreich Spinocerebellar Ataxia

Friedrich'S Ataxia

Friedreich Ataxia 2

FRDA2

Friedreich Ataxia, Type 2

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
Bos taurus PIP5K1B VGNC VGNC:32911
Macaca mulatta PIP5K1B VGNC VGNC:76001
Mus musculus PIP5K1B MGD MGI:107930
Felis catus PIP5K1B VGNC VGNC:68862
Rattus norvegicus PIP5K1B RGD RGD:1310914
Canis familiaris PIP5K1B VGNC VGNC:44575