PIGU phosphatidylinositol glycan anchor biosynthesis, class U [Homo sapiens (human)] - Gene

Summary

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Official Symbol: PIGUprovided by HGNC
Official Full Name: phosphatidylinositol glycan anchor biosynthesis, class Uprovided by HGNC
Primary source: HGNC:15791
Locus tag: RP11-346K17.2
See related: Ensembl:ENSG00000101464; HPRD:12250; MIM:608528; Vega:OTTHUMG00000032304
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GAB1; CDC91L1
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]

Genomic context

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Location :: 20q11.22

Sequence :: Chromosome: 20; NC_000020.10 (33148346..33265089, complement)

See PIGU in Epigenomics, MapViewer

Chromosome 20 - NC_000020.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
Observational study of gene-disease association. (HuGE Navigator)
Title: Modest association of malignant melanoma with the rs910873 and rs1885120 markers on chromosome 20: a population-based study.
CDC91L1 is an oncogene in bladder cancer, and implicate the GPI anchoring system as a potential oncogenic pathway and therapeutic target in human cancers
Title: CDC91L1 (PIG-U) is a newly discovered oncogene in human bladder cancer.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Common sequence variants on 20q11.22 confer melanoma susceptibility.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q9H490	O43292	GPAA1	HPRD	PubMed
BioGRID:126171	BioGRID:114271	GPAA1	BioGRID	PubMed	Co-fractionation
BioGRID:126171	BioGRID:115343	PIGK	BioGRID	PubMed	Co-fractionation
BioGRID:126171	BioGRID:125082	PIGS	BioGRID	PubMed	Co-fractionation
BioGRID:126171	BioGRID:119633	PIGT	BioGRID	PubMed	Co-fractionation
BioGRID:126171	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Attachment of GPI anchor to uPAR, organism-specific biosystem (from REACTOME)
Attachment of GPI anchor to uPAR, organism-specific biosystemThe mature form of urokinase plasminogen activator receptor (uPAR) is attached to the plasma membrane by a glycosylphosphatidylinositol (GPI) anchor (Ploug et al. 1991). As nascent uPAR polypeptide m...
Glycosylphosphatidylinositol(GPI)-anchor biosynthesis, organism-specific biosystem (from KEGG)
Glycosylphosphatidylinositol(GPI)-anchor biosynthesis, organism-specific biosystemCell surface proteins can be attached to the cell membrane via the glycolipid structure called glycosylphosphatidylinositol (GPI) anchor. Hundreds of GPI-anchored proteins have been identified in man...
Glycosylphosphatidylinositol(GPI)-anchor biosynthesis, conserved biosystem (from KEGG)
Glycosylphosphatidylinositol(GPI)-anchor biosynthesis, conserved biosystemCell surface proteins can be attached to the cell membrane via the glycolipid structure called glycosylphosphatidylinositol (GPI) anchor. Hundreds of GPI-anchored proteins have been identified in man...
Metabolism of proteins, organism-specific biosystem (from REACTOME)
Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
Post-translational modification: synthesis of GPI-anchored proteins, organism-specific biosystem (from REACTOME)
Post-translational modification: synthesis of GPI-anchored proteins, organism-specific biosystemGlycosylphosphatidyl inositol (GPI) acts as a membrane anchor for many cell surface proteins. GPI is synthesized in the endoplasmic reticulum. In humans, a single pathway consisting of eleven reactio...
Post-translational protein modification, organism-specific biosystem (from REACTOME)
Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...

General gene information

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Markers

AL034522 (e-PCR)
- UniSTS:94274

RH93624 (e-PCR)
- UniSTS:84672

RH119466 (e-PCR)
- UniSTS:138177

RH46990 (e-PCR)
- UniSTS:12529

Homology

Homologs of the PIGU gene: The PIGU gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, and rice.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to GPI anchor binding	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to GPI-anchor transamidase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
C-terminal protein lipidation	TAS Traceable Author Statement more info
GPI anchor biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
attachment of GPI anchor to protein	IMP Inferred from Mutant Phenotype more info	PubMed
attachment of GPI anchor to protein	TAS Traceable Author Statement more info	PubMed
cellular protein metabolic process	TAS Traceable Author Statement more info
post-translational protein modification	TAS Traceable Author Statement more info
regulation of JAK-STAT cascade	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
GPI-anchor transamidase complex	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
integral to endoplasmic reticulum membrane	IC Inferred by Curator more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phosphatidylinositol glycan anchor biosynthesis class U protein

Names: phosphatidylinositol glycan anchor biosynthesis class U protein; protein CDC91-like 1; GPI transamidase subunit; GPI transamidase component PIG-U; cell division cycle 91-like 1 protein; cell division cycle protein 91-like 1; CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011497.1 RefSeqGene

Range

5001..121744

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_080476.4 → NP_536724.1 phosphatidylinositol glycan anchor biosynthesis class U protein precursor

Status: REVIEWED

Source sequence(s)

AY422169

Consensus CDS

CCDS13239.1

UniProtKB/Swiss-Prot

Q9H490

Related

ENSP00000217446, OTTHUMP00000030693, ENST00000217446, OTTHUMT00000078795

Conserved Domains (1) summary

pfam06728
Location:20 – 394
Blast Score: 862

PIG-U; GPI transamidase subunit PIG-U

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000020.10 Reference GRCh37.p10 Primary Assembly

Range

33148346..33265089, complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000152.1 Alternate HuRef

Range

29928895..30044277, complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018931.1 Alternate CHM1_1.0

Range

33151640..33268353, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01019189.1 (1191..6267)	None
genomic	ABBA01019190.1	None
genomic	ABBA01019191.1	None
genomic	AL118520.26 (16617..133360)	None
genomic	AMYH01011863.1 (84504..155704)	None
genomic	AMYH01011864.1	None
genomic	AMYH01011865.1	None
genomic	CH471077.2	EAW76259.1
		EAW76260.1
		EAW76261.1
		EAW76262.1
mRNA	AB086842.1	BAC53626.1
mRNA	AK075507.1	BAC11660.1
mRNA	AK301900.1	BAG63328.1
mRNA	AK308627.1	None
mRNA	AY339061.1	AAQ18022.1
mRNA	AY358816.1	AAQ89175.1
mRNA	AY422169.1	AAR23798.1
mRNA	BC030512.1	AAH30512.1
other-genetic	EU831773.1	ACE87291.1
other-genetic	EU831851.1	ACE86610.1