PIGM phosphatidylinositol glycan anchor biosynthesis class M [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIGMprovided by HGNC
Official Full Name: phosphatidylinositol glycan anchor biosynthesis class Mprovided by HGNC
Primary source: HGNC:HGNC:18858
See related: Ensembl:ENSG00000143315 MIM:610273; AllianceGenome:HGNC:18858
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: GPI-MT-I
Summary: This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 1q23.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (160024953..160031990, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (159162027..159169067, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (159994743..160001780, complement)

Chromosome 1 - NC_000001.11 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?

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.
B cells but not red cells are glycosylphosphatidylinositol deficient in PIGM-associated inherited glycosylphosphatidylinositol deficiency, caused by a core promoter mutation that abrogates Sp1 binding.
Title: Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency.
Studies indicate that mutations in PGM1 by exome sequencing cause hypoglycemia and liver abnormalities.
Title: Understanding human glycosylation disorders: biochemistry leads the charge.
Mutation substantially reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol(GPI), leading to partial but severe deficiency of GPI.
Title: Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.

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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
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MedGen: C5201145 OMIM: 610293 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

RH68891 (e-PCR)
- UniSTS:59917

D8S2279 (e-PCR)
- UniSTS:473907

STS-Z40760 (e-PCR)
- UniSTS:9566

RH68788 (e-PCR)
- UniSTS:2699

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-1,4-mannosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables glycolipid mannosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables mannosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in GPI anchor biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in GPI anchor biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
part_of glycosylphosphatidylinositol-mannosyltransferase I complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: GPI mannosyltransferase 1

Names: DPM:GlcN-(acyl-)PI mannosyltransferase; GPI mannosyltransferase I; PIG-M mannosyltransferase; dol-P-Man dependent GPI mannosyltransferase; phosphatidylinositol-glycan biosynthesis class M protein

NP_660150.1

EC 2.4.1.-

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.