PIGU - phosphatidylinositol glycan anchor biosynthesis class U Gene

Homo sapiens

Also known as GAB1; PIG-U; NEDBSS; CDC91L1; GPIBD21

Gene ID: 128869 | Gene type: protein coding

About PIGU

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,560,542-34,677,092 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 6.6), ovary (RPKM 5.2) and 25 other tissues.

Summary

The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]

PIGU Products(1)

mRNA	Protein	Name
NM_080476.5	NP_536724.1	phosphatidylinositol glycan anchor biosynthesis class U protein precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to GPI anchor binding	IMP IMP: Inferred from mutant phenotype	12802054	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in GPI anchor biosynthetic process	IDA IDA: Inferred from direct assay	15034568	GOA
involved in attachment of GPI anchor to protein	IMP IMP: Inferred from mutant phenotype	12802054	GOA
involved in regulation of receptor signaling pathway via JAK-STAT	IDA IDA: Inferred from direct assay	15034568	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of GPI-anchor transamidase complex	IDA IDA: Inferred from direct assay	12802054	GOA
part of GPI-anchor transamidase complex	IPI IPI: Inferred from physical interaction	12802054	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15034568	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

PIGU Protein Structure

PIG-U

0
100
200
300
400
435 a.a.

Protein Preferred Names

Protein Names

phosphatidylinositol glycan anchor biosynthesis class U protein

CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis

Glycosylphosphatidylinositol Biosynthesis Defect 21	NEDBSS
Gpibd21

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

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-RS10503	PIGU Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PIGU	VGNC	VGNC:64169
Bos taurus	PIGU	VGNC	VGNC:32879
Mus musculus	PIGU	MGD	MGI:3039607
Rattus norvegicus	PIGU	RGD	RGD:727825
Canis familiaris	PIGU	VGNC	VGNC:44543
Macaca mulatta	PIGU	VGNC	VGNC:107915

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