2. Gene
  3. PIP4P1 - phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 Gene

PIP4P1 - phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 Gene

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

中文名称：磷脂酰肌醇 4,5-二磷酸 4-磷酸酶 1

种属: Homo sapiens

同用名: C14orf9; TMEM55B

基因 ID: 90809 | 基因类型: protein coding

关于 PIP4P1

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:20,457,681-20,461,434 (from NCBI)

This gene has 7 transcripts (splice variants), 259 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 22.8), thyroid (RPKM 17.4) and 25 other tissues.

功能概要

TMEM55B 通过去除 4-磷酸来催化磷脂酰肌醇 4,5-二磷酸 (PtdIns-4,5-P2) 的降解 (Ungewickell 等人，2005 [PubMed 16365287]) 。[OMIM 提供，2008 年 3 月]

TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]

PIP4P1 基因产物(2)

mRNA Protein Name
NM_001100814.3 NP_001094284.1 type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform 1
NM_144568.4 NP_653169.2 type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform 2
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-4,5-bisphosphate 4-phosphatase activity IDA
IDA: 通过直接分析推断
16365287 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
29644770 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cholesterol metabolic process IMP
IMP: 通过突变表型推断
25035345 GOA
involved in lysosome localization IMP
IMP: 通过突变表型推断
29146937 GOA
involved in phosphatidylinositol dephosphorylation IDA
IDA: 通过直接分析推断
16365287 GOA
involved in positive regulation of TORC1 signaling IMP
IMP: 通过突变表型推断
29644770 GOA
involved in response to sterol depletion IDA
IDA: 通过直接分析推断
25035345 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in late endosome membrane IDA
IDA: 通过直接分析推断
16365287 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
16365287 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

PIP4P1 蛋白结构

Tmemb_55A

Tmemb_55A: Transmembrane protein 55A (3 - 270)

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

type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase

ptdIns-4,5-P(2) 4-phosphatase type I

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 99

DFNB99

Autosomal Recessive Nonsyndromic Deafness 99

Autosomal Recessive Deafness 99

Deafness, Autosomal Recessive, 99
Lung Mucoepidermoid Carcinoma

Mucoepidermoid Carcinoma Of Lung
Congenital Disorder Of Glycosylation, Type Ip

CDG1P

Congenital Disorder Of Glycosylation Ip

Congenital Disorder Of Glycosylation 1p

Alg11-Cdg

Cdg-Ip

Congenital Disorder Of Glycosylation Type Ip

Cdg Syndrome Type Ip

Carbohydrate Deficient Glycoprotein Syndrome Type Ip

Congenital Disorder Of Glycosylation Type 1p

Cdgip

Cdg Ip

Glycosylation, Congenital Disorder Of, Type Ip
Hermansky-Pudlak Syndrome 2

HPS2

Hermansky Pudlak Syndrome 2

Platelet Defects And Oculocutaneous Albinism

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 2

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
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-RS10565 PIP4P1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus PIP4P1 MGD MGI:2448501
Felis catus PIP4P1 VGNC VGNC:64183
Bos taurus PIP4P1 VGNC VGNC:32909
Rattus norvegicus PIP4P1 RGD RGD:1307475
Canis familiaris PIP4P1 VGNC VGNC:44573
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