PIGH - phosphatidylinositol glycan anchor biosynthesis class H Gene

Homo sapiens

Also known as GPI-H

Gene ID: 5283 | Gene type: protein coding

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

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

Related Diseases

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10492	PIGH Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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