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

Summary

Official Symbol: PIGUprovided by HGNC
Official Full Name: phosphatidylinositol glycan anchor biosynthesis class Uprovided by HGNC
Primary source: HGNC:HGNC:15791
See related: Ensembl:ENSG00000101464 MIM:608528; AllianceGenome:HGNC:15791
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; PIG-U; NEDBSS; CDC91L1; GPIBD21
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]
Expression: Ubiquitous expression in testis (RPKM 6.6), ovary (RPKM 5.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.22

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (34560542..34677092, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (36283696..36397781, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (33148346..33264896, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit.
Title: Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit.
PIGU promotes hepatocellular carcinoma progression through activating NF-kappaB pathway and increasing immune escape.
Title: PIGU promotes hepatocellular carcinoma progression through activating NF-κB pathway and increasing immune escape.
Identification of PIGU as the Hub Gene Associated with KRAS Mutation in Colorectal Cancer by Coexpression Analysis.
Title: Identification of PIGU as the Hub Gene Associated with KRAS Mutation in Colorectal Cancer by Coexpression Analysis.
Mutations in PIGU Impair the Function of the glycosylphosphatidylinositol Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
Title: Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
Function of a membrane-embedded domain evolutionarily multiplied in the GPI lipid anchor pathway proteins PIG-B, PIG-M, PIG-U, PIG-W, PIG-V, and PIG-Z has been described.
Title: Function of a membrane-embedded domain evolutionarily multiplied in the GPI lipid anchor pathway proteins PIG-B, PIG-M, PIG-U, PIG-W, PIG-V, and PIG-Z.
our findings suggest that PIGU overexpression provides independent and complementary prognostic information in hepatocellular carcinoma patients
Title: PIGU overexpression adds value to TNM staging in the prognostic stratification of patients with hepatocellular carcinoma.
Low PIG-U expression is associated with Papillary Thyroid Carcinoma.
Title: Post-translational Regulation of Radioactive Iodine Therapy Response in Papillary Thyroid Carcinoma.
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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Glycosylphosphatidylinositol biosynthesis defect 21 MedGen: C5231419 OMIM: 618590 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common sequence variants on 20q11.22 confer melanoma susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to GPI anchor binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GPI anchor biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in GPI anchor biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in attachment of GPI anchor to protein	IBA Inferred from Biological aspect of Ancestor more info
involved_in attachment of GPI anchor to protein	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in attachment of GPI anchor to protein	NAS Non-traceable Author Statement more info	PubMed
involved_in attachment of GPI anchor to protein	TAS Traceable Author Statement more info	PubMed
involved_in regulation of receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of GPI-anchor transamidase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of GPI-anchor transamidase complex	IDA Inferred from Direct Assay more info	PubMed
part_of GPI-anchor transamidase complex	IPI Inferred from Physical Interaction more info	PubMed
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in 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: CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1; GPI and Actin Bar homolog; GPI transamidase component PIG-U; GPI transamidase subunit; GPI transamidase subunit PIGU; cell division cycle 91-like 1 protein; cell division cycle protein 91-like 1; protein CDC91-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

5194..121744

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_080476.5 → NP_536724.1 phosphatidylinositol glycan anchor biosynthesis class U protein

See identical proteins and their annotated locations for NP_536724.1

Status: REVIEWED

Source sequence(s)

AY422169

Consensus CDS

CCDS13239.1

UniProtKB/Swiss-Prot

Q7Z489, Q8N2F2, Q9H490

UniProtKB/TrEMBL

B4DXB6

Related

ENSP00000217446.3, ENST00000217446.8

Conserved Domains (1) summary

pfam06728
Location:20 → 394

PIG-U; GPI transamidase subunit PIG-U

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

34560542..34677092 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017027664.2 → XP_016883153.1 phosphatidylinositol glycan anchor biosynthesis class U protein isoform X1

UniProtKB/TrEMBL

B4DXB6

Conserved Domains (1) summary

pfam06728
Location:20 → 346

PIG-U; GPI transamidase subunit PIG-U
XM_011528542.2 → XP_011526844.1 phosphatidylinositol glycan anchor biosynthesis class U protein isoform X2

See identical proteins and their annotated locations for XP_011526844.1

Conserved Domains (1) summary

pfam06728
Location:2 → 178

PIG-U; GPI transamidase subunit PIG-U

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

36283696..36397781 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322981.1 → XP_054178956.1 phosphatidylinositol glycan anchor biosynthesis class U protein isoform X1
XM_054322982.1 → XP_054178957.1 phosphatidylinositol glycan anchor biosynthesis class U protein isoform X2