PIGK phosphatidylinositol glycan anchor biosynthesis, class K [Homo sapiens] - Gene

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Summary

Official Symbol: PIGKprovided by HGNC
Official Full Name: phosphatidylinositol glycan anchor biosynthesis, class Kprovided by HGNC
Primary source: HGNC:8965
Locus tag: RP4-564M11.1
See related: Ensembl:ENSG00000142892; HPRD:05474; MIM:605087; Vega:OTTHUMG00000009686
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; MGC22559
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]

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Genomic context

Location :: 1p31.1

Sequence :: Chromosome: 1; NC_000001.10 (77554666..77685132, complement)

See PIGK in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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

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.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q92643	Alkaline phosphatase, placental	ALPP	HPRD	PubMed
Q92643	O43292	GPAA1	HPRD	PubMed
Q92643	Q969N2	PIGT	HPRD	PubMed
BioGRID:115343	BioGRID:106751	ALPP	BioGRID	PubMed	Reconstituted Complex
BioGRID:115343	BioGRID:107271	CANX	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115343	BioGRID:114271	GPAA1	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation
BioGRID:115343	BioGRID:119633	PIGT	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:115343	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115343	BioGRID:123240	ULBP2	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
contributes_to GPI anchor binding	TAS Traceable Author Statement more info	PubMed
GPI-anchor transamidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
GPI-anchor transamidase activity	TAS Traceable Author Statement more info
cysteine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
peptidase activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
C-terminal protein lipidation	TAS Traceable Author Statement more info
attachment of GPI anchor to protein	TAS Traceable Author Statement more info
cellular protein metabolic process	TAS Traceable Author Statement more info
post-translational protein modification	TAS Traceable Author Statement more info
protein thiol-disulfide exchange	TAS Traceable Author Statement more info	PubMed
proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
GPI-anchor transamidase complex	IMP Inferred from Mutant Phenotype more info	PubMed
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
integral to endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: GPI-anchor transamidase

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

NP_005473.1

EC 3.-.-.-

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NCBI Reference Sequences (RefSeq)

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_005482.2 → NP_005473.1 GPI-anchor transamidase precursor

Status: REVIEWED

Source sequence(s)

AF022913, AL035409, DA263434

Consensus CDS

CCDS674.1

UniProtKB/Swiss-Prot

Q92643

Related

ENSP00000359848, OTTHUMP00000011255, ENST00000370812, OTTHUMT00000026687

Conserved Domains (1) summary

cl02159
Location:42 – 331
Blast Score: 879

Peptidase_C13; Peptidase C13 family

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

77554666..77685132, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

75685143..75815808, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC093433.2	None
genomic	AC113935.2 (34909..92574)	None
genomic	AL035409.15	CAI21819.1
		CAI21820.1
genomic	CH471059.2	EAX06380.1
		EAX06381.1
		EAX06382.1
		EAX06383.1
mRNA	AF022913.1	AAB81597.1
mRNA	AK055071.1	None
mRNA	AK304340.1	BAG65185.1
mRNA	AK313015.1	BAG35850.1
mRNA	BC020737.1	AAH20737.1
mRNA	BC026186.1	None
mRNA	BX648473.1	None
mRNA	DA263434.1	None
mRNA	Y07596.1	CAA68871.1
other-genetic	HQ447704.1	ADQ32189.1