1. Gene
  2. PITPNA - phosphatidylinositol transfer protein alpha Gene

PITPNA - phosphatidylinositol transfer protein alpha Gene

中文名称:磷脂酰肌醇转移蛋白α

种属: Homo sapiens

同用名: PITPN; VIB1A; HEL-S-36; PI-TPalpha

基因 ID: 5306 | 基因类型: protein coding

关于 PITPNA

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,517,718-1,562,792 (from NCBI)

This gene has 10 transcripts (splice variants), 274 orthologues and 5 paralogues. Ubiquitous expression in brain (RPKM 31.8), thyroid (RPKM 27.9) and 25 other tissues.

功能概要

该基因编码脂质结合蛋白家族的一个成员,该蛋白在膜表面之间转移磷脂酰肌醇或磷脂酰胆碱分子。该蛋白质与磷脂酶 C 信号传导和磷酸肌醇 3 激酶产生的磷脂酰肌醇 3,4,5-三磷酸 (PIP3) 相关。[RefSeq 提供,2009 年 9 月]

This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in Phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]

PITPNA 基因产物(1)

mRNA Protein Name
NM_006224.4 NP_006215.1 phosphatidylinositol transfer protein alpha isoform
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables lipid binding EXP
EXP: 通过实验结果推断
14962392 GOA
enables phosphatidylcholine binding IDA
IDA: 通过直接分析推断
15522822 GOA
enables phosphatidylcholine binding IMP
IMP: 通过突变表型推断
14962392 GOA
enables phosphatidylcholine transfer activity IDA
IDA: 通过直接分析推断
15522822 GOA
enables phosphatidylcholine transfer activity IMP
IMP: 通过突变表型推断
14962392 GOA
enables phosphatidylcholine transporter activity IDA
IDA: 通过直接分析推断
16274224 GOA
enables phosphatidylinositol binding IDA
IDA: 通过直接分析推断
15522822 GOA
enables phosphatidylinositol binding IMP
IMP: 通过突变表型推断
14962392 GOA
enables phosphatidylinositol transfer activity IDA
IDA: 通过直接分析推断
10531358 GOA
enables phosphatidylinositol transfer activity IMP
IMP: 通过突变表型推断
14962392 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phospholipid transport IDA
IDA: 通过直接分析推断
16274224 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

PITPNA 蛋白结构

IP_trans

IP_trans: Phosphatidylinositol transfer protein (2 - 254)

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

phosphatidylinositol transfer protein alpha isoform

PI-TP-alpha

PITPNA 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PITPNA Q00169 UQCRC1 Homo sapiens P31930
Validated Y2H
32814053
种属内
PITPNA Q00169 UQCRC1 Homo sapiens P31930
Y2H Pooling
32814053
种属内
PITPNA Q00169 UQCRC1 Homo sapiens P31930
Y2H Array
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 PITPNA 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71207 PITPNA Protein, Human (His) Q00169 (M1-D270) ≥95%

关联疾病

疾病名称 别名
Cerebellar Ataxia, Cayman Type

Cayman Type Cerebellar Ataxia

Ataxia, Cerebellar, Cayman Type

ATCAY

Cayman Cerebellar Ataxia

Cayman Ataxia

Retinal Degeneration

Degeneration Of Retina

Tangier Disease

Analphalipoproteinemia

High Density Lipoprotein Deficiency, Tangier Type

TGD

High Density Lipoprotein Deficiency, Type 1

Hdldt1

Familial High Density Lipoprotein Deficiency

A-Alphalipoprotein Neuropathy

Alpha High Density Lipoprotein Deficiency Disease

Cholesterol Thesaurismosis

Familial High Density Lipoprotein Deficiency Disease

Hdl Lipoprotein Deficiency Disease

Tangier Disease Neuropathy

Familial Alpha-Lipoprotein Deficiency

Familial High-Density Lipoprotein Deficiency 1

Primary Hypoalphalipoproteinemia 1

Analphalipo-Proteinemia

Familial Hypoalphalipo-Proteinemia

Familial Hypoalphalipoproteinemia

Lipoprotein Deficiency Disease, Hdl, Familial

Tangier Hereditary Neuropathy

Atp-Binding Cassette Transporter A1 Deficiency

Hdld1

High Density Lipoprotein Deficiency 1

Tangier Disease, Variant

Hypoalphalipoproteinemia, Familial

Familial Hdl Deficiency

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly

Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome

17p13.3 Duplication Syndrome

17p13.3 Microduplication Syndrome

Trisomy 17p13.3

Chromosome 17p13.3 Centromeric Duplication Syndrome

Dup(17)(P13.3)

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 PITPNA VGNC VGNC:99196
Felis catus PITPNA VGNC VGNC:68867
Mus musculus PITPNA MGD MGI:99887
Bos taurus PITPNA VGNC VGNC:32919
Canis familiaris PITPNA VGNC VGNC:44583
Rattus norvegicus PITPNA RGD RGD:61885
Others PITPNA NCBI