2. Gene
  3. PITPNB - phosphatidylinositol transfer protein beta Gene

PITPNB - phosphatidylinositol transfer protein beta Gene

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

中文名称：磷脂酰肌醇转移蛋白β

种属: Homo sapiens

同用名: VIB1B; PtdInsTP; PI-TP-beta

基因 ID: 23760 | 基因类型: protein coding

关于 PITPNB

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:27,851,669-27,919,256 (from NCBI)

This gene has 10 transcripts (splice variants), 221 orthologues and 5 paralogues. Ubiquitous expression in esophagus (RPKM 27.0), urinary bladder (RPKM 21.0) and 25 other tissues.

功能概要

该基因编码一种细胞质蛋白，可催化磷脂酰肌醇和磷脂酰胆碱在细胞膜之间的转移。这种转移活性是 COPI 复合物介导的从高尔基体逆行转运到内质网所必需的。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2013 年 9 月]

This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]

PITPNB 基因产物(3)

mRNA Protein Name
NM_001284277.2 NP_001271206.1 phosphatidylinositol transfer protein beta isoform isoform 2
NM_001284278.2 NP_001271207.1 phosphatidylinositol transfer protein beta isoform isoform 3
NM_012399.5 NP_036531.1 phosphatidylinositol transfer protein beta isoform isoform 1
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 phosphatidylcholine binding IDA
IDA: 通过直接分析推断
16274224 GOA
enables phosphatidylcholine transfer activity EXP
EXP: 通过实验结果推断
11104777 GOA
enables phosphatidylcholine transfer activity IMP
IMP: 通过突变表型推断
18636990 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
16274224 GOA
enables phosphatidylinositol transfer activity EXP
EXP: 通过实验结果推断
11104777 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
18636990 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
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
IMP: 通过突变表型推断
20332109 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

PITPNB 蛋白结构

IP_trans

IP_trans: Phosphatidylinositol transfer protein (2 - 254)

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

phosphatidylinositol transfer protein beta isoform

PtdIns transfer protein beta

关联疾病

疾病名称 别名
Cone-Rod Dystrophy 5

CORD5

Dystrophy, Cone-Rod, Type 5
Nonparalytic Poliomyelitis

Acute Nonparalytic Poliomyelitis

Non-Paralytic Aseptic Meningitis
Cleft Soft Palate

Cleft Velum

Cleft Velum Palatinum

Soft Cleft Palate

Soft Palate Perforation
Cerebellopontine Angle Tumor

Cerebellopontine Angle Tumour

Neoplasm Of The Cerebellopontine Angle
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
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-RS10575 PITPNB Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PITPNB RGD RGD:620143
Canis familiaris PITPNB VGNC VGNC:44584
Felis catus PITPNB VGNC VGNC:68868
Macaca mulatta PITPNB VGNC VGNC:76006
Bos taurus PITPNB VGNC VGNC:32920
Mus musculus PITPNB MGD MGI:1927542
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