PIGZ - phosphatidylinositol glycan anchor biosynthesis class Z Gene

Homo sapiens

Also known as SMP3; PIG-Z; GPI-MT-IV

Gene ID: 80235 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_025163.4	NP_079439.2	GPI mannosyltransferase 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables alpha-1,2-mannosyltransferase activity	IMP IMP: Inferred from mutant phenotype	15208306	GOA
enables mannosyltransferase activity	EXP EXP: Inferred from Experiment	15208306	GOA
enables mannosyltransferase activity	IGI IGI: Inferred from genetic interaction	15208306	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in GPI anchor biosynthetic process	IGI IGI: Inferred from genetic interaction	15208306	GOA
involved in GPI anchor biosynthetic process	IMP IMP: Inferred from mutant phenotype	15208306	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15208306	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

PIGZ Protein Structure

Glyco_transf_22

0
100
200
300
400
500
579 a.a.

Protein Preferred Names

Protein Names

GPI mannosyltransferase 4

GPI mannosyltransferase IV

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10508	PIGZ Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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