2. Gene
  3. PIGC - phosphatidylinositol glycan anchor biosynthesis class C Gene

PIGC - phosphatidylinositol glycan anchor biosynthesis class C Gene

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

中文名称：磷脂酰肌醇聚糖锚生物合成 C 类

种属: Homo sapiens

同用名: GPI2; MRT62; GPIBD16

基因 ID: 5279 | 基因类型: protein coding

关于 PIGC

Cytogenetic location: 1q24.3 Genomic coordinates (GRCh38): 1:172,441,457-172,444,069 (from NCBI)

This gene has 7 transcripts (splice variants), 198 orthologues and is associated with 2 phenotypes. Ubiquitous expression in gall bladder (RPKM 12.5), skin (RPKM 12.3) and 25 other tissues.

功能概要

该基因编码参与糖基磷脂酰肌醇 (GPI) 脂质锚生物合成的内质网相关蛋白。 GPI 脂质锚是一种在许多血细胞上发现的糖脂，用于将蛋白质锚定到细胞表面。编码的蛋白质是 GPI N-乙酰葡糖胺基 (GlcNAc) 转移酶的一个亚基，可将 GlcNAc 转移到内质网细胞质侧的磷脂酰肌醇 (PI) 。已针对该基因发现了编码相同蛋白质的两个可变剪接转录物。 11 号染色体上的假基因也已被表征。[RefSeq 提供，2008 年 7 月]

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]

PIGC 基因产物(2)

mRNA Protein Name
NM_002642.4 NP_002633.1 phosphatidylinositol N-acetylglucosaminyltransferase subunit C
NM_153747.2 NP_714969.1 phosphatidylinositol N-acetylglucosaminyltransferase subunit C
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 protein binding IPI
IPI: 通过物理相互作用推断
9463366 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in GPI anchor biosynthetic process IDA
IDA: 通过直接分析推断
16162815 GOA
involved in GPI anchor biosynthetic process IMP
IMP: 通过突变表型推断
27694521 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
16162815 GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA
IDA: 通过直接分析推断
10944123 GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IPI
IPI: 通过物理相互作用推断
16162815 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

PIGC 蛋白结构

GPI2

GPI2: Phosphatidylinositol N-acetylglucosaminyltransferase (14 - 284)

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

phosphatidylinositol N-acetylglucosaminyltransferase subunit C

PIG-C

PIGC 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
PIGC Q92535 PIGQ Homo sapiens Q9BRB3
Anti Tag CoIP
9463366
种属内
PIGC Q92535 DPM2 Homo sapiens O94777
Anti Tag CoIP
10944123
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Glycosylphosphatidylinositol Biosynthesis Defect 16

GPIBD16

Mrt62

Mental Retardation, Autosomal Recessive 62

Intellectual Developmental Disorder, Autosomal Recessive 62

Glycosylphosphatidylinositol Biosynthesis Defect, Type 16
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Anterior Segment Dysgenesis 4

Iridogoniodysgenesis Syndrome

Iridogoniodysgenesis, Type 2

Irid2

Iridogoniodysgenesis Type 2

ASGD4

Igds

Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant

Ihga

Irid 1

Irid 2

Iridogoniodysgenesis Type 1

Igds2

Iridogoniodysgenesis Syndrome 2

Iridogoniodysgenesis, Type 1
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability
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-RS10489 PIGC Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PIGC VGNC VGNC:44531
Mus musculus PIGC MGD MGI:1914542
Macaca mulatta PIGC VGNC VGNC:75986
Felis catus PIGC VGNC VGNC:82497
Rattus norvegicus PIGC RGD RGD:1311337
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