1. Gene
  2. PIGZ - phosphatidylinositol glycan anchor biosynthesis class Z Gene

PIGZ - phosphatidylinositol glycan anchor biosynthesis class Z Gene

中文名称:磷脂酰肌醇聚糖锚定生物合成类 Z

种属: Homo sapiens

同用名: SMP3; PIG-Z; GPI-MT-IV

基因 ID: 80235 | 基因类型: protein coding

关于 PIGZ

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:196,946,356-196,968,833 (from NCBI)

This gene has 4 transcripts (splice variants) and 43 orthologues. Broad expression in colon (RPKM 5.3), brain (RPKM 1.9) and 20 other tissues.

功能概要

糖基磷脂酰肌醇 (GPI) 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。该基因编码一种定位于内质网的蛋白质,并参与 GPI 锚生物合成。如酵母同系物所示,它是多萜醇-磷酸-甘露糖 (Dol-P-Man) 依赖性甘露糖基转移酶家族的成员,该蛋白质还可以在 GPI 组装过程中向 GPI 前体添加侧支第四甘露糖锚。[RefSeq 提供,2008 年 7 月]

The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]

PIGZ 基因产物(1)

mRNA Protein Name
NM_025163.4 NP_079439.2 GPI mannosyltransferase 4
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 alpha-1,2-mannosyltransferase activity IMP
IMP: 通过突变表型推断
15208306 GOA
enables mannosyltransferase activity EXP
EXP: 通过实验结果推断
15208306 GOA
enables mannosyltransferase activity IGI
IGI: 通过遗传相互作用推断
15208306 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in GPI anchor biosynthetic process IGI
IGI: 通过遗传相互作用推断
15208306 GOA
involved in GPI anchor biosynthetic process IMP
IMP: 通过突变表型推断
15208306 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
15208306 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

PIGZ 蛋白结构

Glyco_transf_22

Glyco_transf_22: Alg9-like mannosyltransferase family (43 - 449)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 579 a.a.
蛋白主名 其他名称

GPI mannosyltransferase 4

GPI mannosyltransferase IV

关联疾病

疾病名称 别名
Thyroid Dyshormonogenesis 5

TDH5

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 5

Thyroid Hormonogenesis, Genetic Defect In, 5

Genetic Defect In Thyroid Hormonogenesis 5

Chdh5

Congenital Hypothyroidism Due To Dyshormonogenesis Type 5

Genetic Defect In Thyroid Hormonogenesis Type 5

Developmental And Epileptic Encephalopathy 80

DEE80

Glycosylphosphatidylinositol Biosynthesis Defect 20

Gpibd20

Epileptic Encephalopathy, Early Infantile, 80

Eiee80

Developmental And Epileptic Encephalopathy, 80

Early Infantile Epileptic Encephalopathy 80

Familial Thyroid Dyshormonogenesis

Thyroid Dyshormonogenesis

Familial Dyshormonogenetic Goiter

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 PIGZ MGD MGI:2443822
Macaca mulatta PIGZ VGNC VGNC:75899
Rattus norvegicus PIGZ RGD RGD:1307107
Bos taurus PIGZ VGNC VGNC:32882