1. Gene
  2. INPP5F - inositol polyphosphate-5-phosphatase F Gene

INPP5F - inositol polyphosphate-5-phosphatase F Gene

中文名称:肌醇聚磷酸-5-磷酸酶 F

种属: Homo sapiens

同用名: SAC2; hSAC2; MSTP007; MSTPO47

基因 ID: 22876 | 基因类型: protein coding

关于 INPP5F

Cytogenetic location: 10q26.11 Genomic coordinates (GRCh38): 10:119,726,050-119,829,147 (from NCBI)

This gene has 21 transcripts (splice variants), 217 orthologues and 13 paralogues. Broad expression in brain (RPKM 17.8), testis (RPKM 4.5) and 22 other tissues.

功能概要

该基因编码的蛋白质是一种肌醇 1,4,5-三磷酸 (InsP3) 5-磷酸酶,包含一个 Sac 结构域。这种蛋白质的活性对磷脂酰肌醇 4,5-二磷酸和磷脂酰肌醇 3,4,5-三磷酸具有特异性。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 8 月]

The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

INPP5F 基因产物(3)

mRNA Protein Name
NM_001243194.2 NP_001230123.1 phosphatidylinositide phosphatase SAC2 isoform 2
NM_001243195.2 NP_001230124.1 phosphatidylinositide phosphatase SAC2 isoform 3
NM_014937.4 NP_055752.1 phosphatidylinositide phosphatase SAC2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphatidylinositol phosphate 4-phosphatase activity IDA
IDA: 通过直接分析推断
25869669 GOA
NOT enables phosphatidylinositol phosphate 5-phosphatase activity IDA
IDA: 通过直接分析推断
25869669 GOA
enables phosphatidylinositol phosphate 5-phosphatase activity IDA
IDA: 通过直接分析推断
11274189 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25476455 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
25869669 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of tyrosine phosphorylation of STAT protein IDA
IDA: 通过直接分析推断
25476455 GOA
involved in phosphatidylinositol dephosphorylation IDA
IDA: 通过直接分析推断
11274189 GOA
involved in positive regulation of receptor recycling IDA
IDA: 通过直接分析推断
25869669 GOA
involved in regulation of cell motility IMP
IMP: 通过突变表型推断
25869669 GOA
involved in regulation of endocytic recycling IMP
IMP: 通过突变表型推断
25869669 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in clathrin-coated endocytic vesicle IDA
IDA: 通过直接分析推断
25869669 GOA
colocalizes with clathrin-coated pit IDA
IDA: 通过直接分析推断
25869669 GOA
located in early endosome IDA
IDA: 通过直接分析推断
25869669 GOA
located in recycling endosome IDA
IDA: 通过直接分析推断
25869669 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

INPP5F 蛋白结构

Syja_N

Syja_N: SacI homology domain (49 - 421)

hSac2

hSac2: Inositol phosphatase (589 - 699)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1132 a.a.
蛋白主名 其他名称

phosphatidylinositide phosphatase SAC2

Sac domain-containing inositol phosphatase 2

关联疾病

疾病名称 别名
Foramen Magnum Meningioma

Meningioma Of The Foramen Magnum

Parkinson Disease 21

PARK21

Parkinson'S Disease 21

Parkinson Disease, Type 21

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Mus musculus INPP5F MGD MGI:2141867
Macaca mulatta INPP5F VGNC VGNC:73610
Canis familiaris INPP5F VGNC VGNC:42034
Bos taurus INPP5F VGNC VGNC:106784
Rattus norvegicus INPP5F RGD RGD:1305777
Felis catus INPP5F VGNC VGNC:62930