PIGB phosphatidylinositol glycan anchor biosynthesis class B [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIGBprovided by HGNC
Official Full Name: phosphatidylinositol glycan anchor biosynthesis class Bprovided by HGNC
Primary source: HGNC:HGNC:8959
See related: Ensembl:ENSG00000069943 MIM:604122; AllianceGenome:HGNC:8959
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: DEE80; PIG-B; EIEE80; GPI-MT-III
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 found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 8.6), prostate (RPKM 5.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (55319222..55355648)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (53122411..53158836)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (55611420..55647846)

Chromosome 15 - NC_000015.10 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?

A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
Title: A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality.
Title: Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
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.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Downregulation of the gene for phosphatidylinositol glycan class B (PIGB) by siRNA confers resistance to methylmercury in HEK293 cells.
Title: siRNA-mediated inhibition of phosphatidylinositol glycan Class B (PIGB) confers resistance to methylmercury in HEK293 cells.

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
Developmental and epileptic encephalopathy, 80 MedGen: C5231418 OMIM: 618580 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S831 (e-PCR)
- UniSTS:3596

WI-16128 (e-PCR)
- UniSTS:79160

RH104421 (e-PCR)
- UniSTS:98746

SHGC-53386 (e-PCR)
- UniSTS:78068

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-1,2-mannosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycolipid mannosyltransferase activity	TAS Traceable Author Statement more info
enables mannosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

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	IDA Inferred from Direct Assay more info	PubMed
involved_in GPI anchor biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in GPI anchor biosynthetic process	TAS Traceable Author Statement more info
involved_in mannosylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: GPI mannosyltransferase 3

Names: GPI mannosyltransferase III; dol-P-Man dependent GPI mannosyltransferase; dol-P-Man dependent GPI mannosyltransferase III; phosphatidylinositol glycan, class B; phosphatidylinositol-glycan biosynthesis class B protein

NP_004846.4

EC 2.4.1.-

XP_005254852.1

EC 2.4.1.-

XP_011520537.1

EC 2.4.1.-

XP_011520538.1

EC 2.4.1.-

XP_011520539.1

EC 2.4.1.-

XP_016878219.1

EC 2.4.1.-

XP_016878220.1

EC 2.4.1.-

XP_047289319.1

EC 2.4.1.-

XP_047289320.1

EC 2.4.1.-

XP_047289321.1

EC 2.4.1.-

XP_054235212.1

EC 2.4.1.-

XP_054235213.1

EC 2.4.1.-

XP_054235214.1

EC 2.4.1.-

XP_054235215.1

EC 2.4.1.-

XP_054235216.1

EC 2.4.1.-

XP_054235217.1

EC 2.4.1.-

XP_054235218.1

EC 2.4.1.-

XP_054235219.1

EC 2.4.1.-

XP_054235220.1

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.

mRNA and Protein(s)

NM_004855.5 → NP_004846.4 GPI mannosyltransferase 3

See identical proteins and their annotated locations for NP_004846.4

Status: REVIEWED

Source sequence(s)

AC018926, AK223330, DA598474

Consensus CDS

CCDS61641.1

UniProtKB/Swiss-Prot

Q53FF9, Q8WVN7, Q92521

UniProtKB/TrEMBL

B2RBK6, F5H1S1

Related

ENSP00000164305.5, ENST00000164305.10

Conserved Domains (1) summary

pfam03901
Location:62 → 449

Glyco_transf_22; Alg9-like mannosyltransferase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

55319222..55355648

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011522235.4 → XP_011520537.1 GPI mannosyltransferase 3 isoform X1

UniProtKB/TrEMBL

B2RBK6, F5H1S1

Conserved Domains (1) summary

pfam03901
Location:62 → 434

Glyco_transf_22; Alg9-like mannosyltransferase family
XM_011522236.4 → XP_011520538.1 GPI mannosyltransferase 3 isoform X2

UniProtKB/TrEMBL

F5H1S1

Conserved Domains (1) summary

pfam03901
Location:62 → 414

Glyco_transf_22; Alg9-like mannosyltransferase family
XM_047433363.1 → XP_047289319.1 GPI mannosyltransferase 3 isoform X3
XM_047433364.1 → XP_047289320.1 GPI mannosyltransferase 3 isoform X4
XM_011522237.3 → XP_011520539.1 GPI mannosyltransferase 3 isoform X3

UniProtKB/TrEMBL

B4DEK1

Conserved Domains (1) summary

cl21590
Location:7 → 316

PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
XM_005254795.6 → XP_005254852.1 GPI mannosyltransferase 3 isoform X4

UniProtKB/TrEMBL

B4DEK1

Conserved Domains (1) summary

cl21590
Location:1 → 288

PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
XM_047433365.1 → XP_047289321.1 GPI mannosyltransferase 3 isoform X5
XM_017022730.1 → XP_016878219.1 GPI mannosyltransferase 3 isoform X3

UniProtKB/TrEMBL

B4DEK1

Conserved Domains (1) summary

cl21590
Location:7 → 316

PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
XM_017022731.2 → XP_016878220.1 GPI mannosyltransferase 3 isoform X3

UniProtKB/TrEMBL

B4DEK1

Conserved Domains (1) summary

cl21590
Location:7 → 316

PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase