PIGL phosphatidylinositol glycan anchor biosynthesis, class L [Homo sapiens (human)] - Gene

Summary

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Official Symbol: PIGLprovided by HGNC
Official Full Name: phosphatidylinositol glycan anchor biosynthesis, class Lprovided by HGNC
Primary source: HGNC:8966
See related: Ensembl:ENSG00000108474; HPRD:12071; MIM:605947; Vega:OTTHUMG00000059346
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: CHIME
Summary: This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 17p12-p11.2

Sequence :: Chromosome: 17; NC_000017.10 (16120509..16229573)

See PIGL in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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

Whole-exome sequencing on five previously reported CHIME cases identified PIGL (N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase) as required for glycosylphosphatidylinositol anchor formation.
Title: Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Submit: New GeneRIF Correction

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

Zunich neuroectodermal syndrome

MIM: 280000

Genetic Testing Registry

Pathways from BioSystems

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GPI-anchor biosynthesis, core oligosaccharide, organism-specific biosystem (from KEGG)
GPI-anchor biosynthesis, core oligosaccharide, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycan metabolism
GPI-anchor biosynthesis, core oligosaccharide, conserved biosystem (from KEGG)
GPI-anchor biosynthesis, core oligosaccharide, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycan metabolism
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...
Synthesis of glycosylphosphatidylinositol (GPI), organism-specific biosystem (from REACTOME)
Synthesis of glycosylphosphatidylinositol (GPI), 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 nine reactions...

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D17S1568 (e-PCR)
- UniSTS:151859

D17S1527 (e-PCR)
- UniSTS:23880

WI-18028 (e-PCR)
- UniSTS:33869

SHGC-24126 (e-PCR)
- UniSTS:30295

RH91147 (e-PCR)
- UniSTS:92552

D11S3114 (e-PCR)
- UniSTS:152207

D17S2037 (e-PCR)
- UniSTS:79600

Homology

Homologs of the PIGL gene: The PIGL gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, 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
N-acetylglucosaminylphosphatidylinositol deacetylase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
C-terminal protein lipidation	TAS Traceable Author Statement more info
GPI anchor biosynthetic process	NAS Non-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
preassembly of GPI anchor in ER membrane	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
endoplasmic reticulum	NAS Non-traceable Author Statement more info
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
integral to membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase

Names: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase; PIG-L; phosphatidylinositol glycan, class L; N-acetylglucosaminylphosphatidylinositol deacetylase; phosphatidylinositol-glycan biosynthesis class L protein

NP_004269.1

EC 3.5.1.89

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_032651.1 RefSeqGene

Range

5001..114065

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004278.3 → NP_004269.1 N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase precursor

Status: REVIEWED

Source sequence(s)

AB017165, AI888858, BC068197, BX404762

Consensus CDS

CCDS11176.1

UniProtKB/Swiss-Prot

Q9Y2B2

Related

ENSP00000225609, OTTHUMP00000065643, ENST00000225609, OTTHUMT00000131881

Conserved Domains (1) summary

COG2120
Location:34 – 252
Blast Score: 224

COG2120; Uncharacterized proteins, LmbE homologs [Function unknown]

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_000017.10 Reference GRCh37.p10 Primary Assembly

Range

16120509..16229573

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

15987546..16096166

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018928.1 Alternate CHM1_1.0

Range

16109128..16218179

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GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01035656.1 (26841..40945)	None
genomic	ABBA01035657.1	None
genomic	ABBA01035658.1	None
genomic	ABBA01035659.1	None
genomic	ABBA01035660.1	None
genomic	ABBA01035661.1	None
genomic	AC005971.5 (33460..142495)	None
genomic	AMYH01008147.1 (122295..231346)	None
genomic	CH471222.1	EAX04497.1
		EAX04498.1
mRNA	AB017165.1	BAA74775.1
mRNA	AI888858.1	None
mRNA	AK023469.1	None
mRNA	AK292932.1	BAF85621.1
mRNA	AK296120.1	BAG58868.1
mRNA	AK302523.1	BAG63796.1
mRNA	BC068197.1	AAH68197.1
mRNA	BX404762.1	None
other-genetic	HQ447574.1	ADQ32060.1