2. Gene
  3. INPP5J - inositol polyphosphate-5-phosphatase J Gene

INPP5J - inositol polyphosphate-5-phosphatase J Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：肌醇多磷酸 5-磷酸酶 J

种属: Homo sapiens

同用名: PIPP; INPP5; PIB5PA

基因 ID: 27124 | 基因类型: protein coding

关于 INPP5J

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:31,122,923-31,134,697 (from NCBI)

This gene has 13 transcripts (splice variants), 278 orthologues and 13 paralogues. Biased expression in thyroid (RPKM 63.8), small intestine (RPKM 7.6) and 4 other tissues.

功能概要

预计可启用磷脂酰肌醇 3,4,5-三磷酸 5-磷酸酶活性和磷脂酰肌醇 4,5-二磷酸 5-磷酸酶活性。预计参与磷酸肌醇去磷酸化；肽基丝氨酸磷酸化的负调节；和磷脂酰肌醇去磷酸化。预计在神经元投射发育的负调节上游或负调节内起作用。位于细胞质和褶边。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Predicted to be involved in inositol phosphate dephosphorylation; negative regulation of peptidyl-serine phosphorylation; and phosphatidylinositol dephosphorylation. Predicted to act upstream of or within negative regulation of neuron projection development. Located in cytoplasm and ruffle. [provided by Alliance of Genome Resources, Apr 2022]

INPP5J 基因产物(6)

mRNA Protein Name
NM_001002837.2 NP_001002837.1 phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform c
NM_001284285.2 NP_001271214.1 phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform a
NM_001284286.1 NP_001271215.1 phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform b
NM_001284287.1 NP_001271216.1 phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform d
NM_001284288.1 NP_001271217.1 phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform e
NM_001284289.1 NP_001271218.1 phosphatidylinositol 4,5-bisphosphate 5-phosphatase A isoform e
基因本体论
  • 分子功能
  • 细胞组分
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
25416956 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
12536145 GOA
located in ruffle IDA
IDA: 通过直接分析推断
12536145 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

INPP5J 蛋白结构

Exo_endo_phos

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (428 - 721)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1006 a.a.
蛋白主名 其他名称

phosphatidylinositol 4,5-bisphosphate 5-phosphatase A

关联疾病

疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06832 INPP5J Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus INPP5J VGNC VGNC:53909
Felis catus INPP5J VGNC VGNC:68841
Canis familiaris INPP5J VGNC VGNC:42035
Macaca mulatta INPP5J VGNC VGNC:73814
Rattus norvegicus INPP5J RGD RGD:620541
Mus musculus INPP5J MGD MGI:2158663
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