PIGH - phosphatidylinositol glycan anchor biosynthesis class H Gene

中文名称：磷脂酰肌醇聚糖锚生物合成 H 类

种属: Homo sapiens

同用名: GPI-H

基因 ID: 5283 | 基因类型: protein coding

关于 PIGH

Cytogenetic location: 14q24.1 Genomic coordinates (GRCh38): 14:67,589,306-67,600,301 (from NCBI)

This gene has 12 transcripts (splice variants), 199 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 16.9), prostate (RPKM 14.4) and 25 other tissues.

功能概要

该基因编码参与糖基磷脂酰肌醇 (GPI) -锚生物合成的内质网相关蛋白。 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 转移到内质网胞质侧的磷脂酰肌醇 (PI) 。[RefSeq 提供，2008 年 7 月]

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

PIGH 基因产物(2)

mRNA	Protein	Name
NM_001363694.1	NP_001350623.1	phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform 2
NM_004569.5	NP_004560.1	phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform 1

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	8900170	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

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

PIGH 蛋白结构

PIG-H

0
100
188 a.a.

蛋白主名

其他名称

phosphatidylinositol N-acetylglucosaminyltransferase subunit H

phosphatidylinositol-glycan biosynthesis, class H protein

PIGH 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	PIGH	Q14442	PIGQ	Homo sapiens	Q9BRB3	Anti Tag CoIP	9463366
种属内	PIGH	Q14442	PIGQ	Homo sapiens	Q9BRB3	Anti Tag CoIP	33961781
种属内	PIGH	Q14442	PIGA	Homo sapiens	P37287	Anti Tag CoIP	33961781

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 17

GPIBD17

Glycosylphosphatidylinositol Biosynthesis Defect, Type 17

Hemoglobinuria

B-Cell Adult Acute Lymphocytic Leukemia

Adult B Acute Lymphoblastic Leukemia	Adult B Acute Lymphoblastic Leukaemia
Adult B-Cell Acute Lymphoblastic Leukaemia	Adult B-Cell Acute Lymphoblastic Leukemia
Adult B-Cell Lymphocytic Leukaemia	Adult B-Cell Lymphocytic Leukemia
Adult B-Lymphoblastic Leukaemia	Adult B-Lymphoblastic Leukemia
B-Cell Adult Acute Lymphocytic Leukaemia	B-Cell Adult Acute Lymphoblastic Leukemia

Bleeding Disorder, Platelet-Type, 9

Platelet-Type Bleeding Disorder 9	Glycoprotein Ia Deficiency
BDPLT9	Gp Ia Deficiency
Collagen Platelet Receptor Deficiency	Bleeding Diathesis Due To Integrin Alpha2-Beta1 Deficiency
Bleeding Disorder, Platelet Type 9

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome

Chime Syndrome	Zunich Neuroectodermal Syndrome
Zunich-Kaye Syndrome	CHIME
Glycosylphosphatidylinositol Biosynthesis Defect 5	Gpibd5
Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome	Congenital Disorder Of Glycosylation Due To Pigl Deficiency
Neuroectodermal Dysplasia, Chime Type	Neuroectodermal Syndrome, Zunich Type
Pigl-Cdg	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability And Ear Anomalies Syndrome
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, And Ear Anomalies Syndrome

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10492	PIGH Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	PIGH	VGNC	VGNC:44534
Mus musculus	PIGH	MGD	MGI:99463
Macaca mulatta	PIGH	VGNC	VGNC:75987
Bos taurus	PIGH	VGNC	VGNC:32869
Felis catus	PIGH	VGNC	VGNC:80880
Rattus norvegicus	PIGH	RGD	RGD:1311438
Others	PIGH	NCBI

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