PIGH - phosphatidylinositol glycan anchor biosynthesis class H Gene

Also Known as GPI-H

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 5283

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	8900170	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in GPI anchor biosynthetic process	IDA IDA: Inferred from direct assay	16162815	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16162815	GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA IDA: Inferred from direct assay	10944123	GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI IPI: Inferred from physical interaction	16162815	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIGH Protein Structure

PIG-H

0
100
188 a.a.

Protein Preferred Names	Protein Names
phosphatidylinositol N-acetylglucosaminyltransferase subunit H	phosphatidylinositol-glycan biosynthesis, class H protein

PIGH Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	PIGH	Q14442	PIGQ	Homo sapiens	Q9BRB3	Anti Tag CoIP	9463366
Intra	PIGH	Q14442	PIGQ	Homo sapiens	Q9BRB3	Anti Tag CoIP	33961781
Intra	PIGH	Q14442	PIGA	Homo sapiens	P37287	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS10492	PIGH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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