PIGK phosphatidylinositol glycan anchor biosynthesis class K [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIGKprovided by HGNC
Official Full Name: phosphatidylinositol glycan anchor biosynthesis class Kprovided by HGNC
Primary source: HGNC:HGNC:8965
See related: Ensembl:ENSG00000142892 MIM:605087; AllianceGenome:HGNC:8965
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: GPI8; NEDHCAS
Summary: This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 12.4), adrenal (RPKM 9.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (77088989..77219430, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (76927170..77057594, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (77554674..77685115, complement)

Chromosome 1 - NC_000001.11 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 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?

Hrd1-dependent Degradation of the Unassembled PIGK Subunit of the GPI Transamidase Complex.
Title: Hrd1-dependent Degradation of the Unassembled PIGK Subunit of the GPI Transamidase Complex.
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.
Subunits of the GPI transamidase complex localize to the endoplasmic reticulum and nuclear envelope in Drosophila.
Title: Subunits of the GPI transamidase complex localize to the endoplasmic reticulum and nuclear envelope in Drosophila.
Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.
Title: Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.
The overexpression of wild-type (WT) PIGK in fibroblasts rescued the levels of cell surface GPI-APs.
Title: Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Report firstly demonstrated that inadequate protein-glycosylphosphatidylinositol anchoring caused by suppression of PIGK might affect the expression or function of some glycosylphosphatidylinositol-anchored proteins associated with tyrosinase activity.
Title: Microsatellite polymorphism located immediately upstream of the phosphatidylinositol glycan, class K gene (PIGK) affects its expression, which correlates with tyrosinase activity in human melanocytes.
Our results demonstrate, for the first time, a link between the SNP 1048575 and low PIGK expression in CRC/HCC patients and also suggest a possible association between altered PIGK expression and disease susceptibility.
Title: A single nucleotide polymorphism in the human PIGK gene associates with low PIGK expression in colorectal cancer patients.
GPI8 and PIG-T form a functionally important intermolecular disulfide bridge
Title: Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge.

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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
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures MedGen: C5394372 OMIM: 618879 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of phosphatidylinositol glycan anchor biosynthesis, class K (PIGK) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with PIGK; predicted interaction to be within the endoplasmic reticulum	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62685 (e-PCR)
- UniSTS:139810

SHGC-75019 (e-PCR)
- UniSTS:34089

G60412 (e-PCR)
- UniSTS:137518

D1S216 (e-PCR)
- UniSTS:92736

RH81087 (e-PCR)
- UniSTS:90966

RH121835 (e-PCR)
- UniSTS:134488

STS-Y07596 (e-PCR)
- UniSTS:69761

PIGK_9029 (e-PCR)
- UniSTS:468106

RH124080 (e-PCR)
- UniSTS:134561

D1S216 (e-PCR)
- UniSTS:14261

SHGC-75037 (e-PCR)
- UniSTS:66246

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to GPI anchor binding	TAS Traceable Author Statement more info	PubMed
enables GPI-anchor transamidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GPI-anchor transamidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables GPI-anchor transamidase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein disulfide isomerase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
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	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 proteolysis	IEA Inferred from Electronic Annotation more info

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	IMP Inferred from Mutant Phenotype 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

General protein information

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Preferred Names: GPI-anchor transamidase

Names: GPI transamidase subunit; GPI8 homolog; PIG-K; phosphatidylinositol glycan, class K; phosphatidylinositol-glycan biosynthesis class K protein

NP_005473.1

EC 3.-.-.-

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.

mRNA and Protein(s)

NM_005482.3 → NP_005473.1 GPI-anchor transamidase precursor

See identical proteins and their annotated locations for NP_005473.1

Status: REVIEWED

Source sequence(s)

AC093433, AC113935, AL035409

Consensus CDS

CCDS674.1

UniProtKB/Swiss-Prot

B2R7K3, B4E2M3, O14822, Q5TG77, Q92643

UniProtKB/TrEMBL

A6NEM5

Related

ENSP00000359848.3, ENST00000370812.8

Conserved Domains (1) summary

cl00042
Location:42 → 331

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...