PIGS phosphatidylinositol glycan anchor biosynthesis class S [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIGSprovided by HGNC
Official Full Name: phosphatidylinositol glycan anchor biosynthesis class Sprovided by HGNC
Primary source: HGNC:HGNC:14937
See related: Ensembl:ENSG00000087111 MIM:610271; AllianceGenome:HGNC:14937
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: DEE95; PIG-S; GPIBD18
Summary: This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. 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 fat (RPKM 16.8), kidney (RPKM 16.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (28553387..28571524, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (29496010..29514149, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (26880405..26898542, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Title: Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
By describing the consequences of PIGS disruption in humans and extending the family of IGDs.
Title: Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

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

Associated conditions

Description	Tests
Glycosylphosphatidylinositol biosynthesis defect 18 MedGen: C4748357 OMIM: 618143 GeneReviews: Not available	Compare labs

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

D17S2156 (e-PCR)
- UniSTS:15209

G35510 (e-PCR)
- UniSTS:44150

G20535 (e-PCR)
- UniSTS:75973

RH17002 (e-PCR)
- UniSTS:92107

D17S1465E (e-PCR)
- UniSTS:150505

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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

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
part_of GPI-anchor transamidase complex	TAS Traceable Author Statement 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 transamidase component PIG-S

Names: GPI transamidase subunit; phosphatidylinositol glycan, class S; phosphatidylinositol-glycan biosynthesis class S protein

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.