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

Gene ID: 9488, updated on 3-Apr-2024

Summary

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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
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Genomic context

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Location:
15q21.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (55319222..55355648)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (53122411..53158836)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (55611420..55647846)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9439 Neighboring gene RAB27A, member RAS oncogene family Neighboring gene Sharpr-MPRA regulatory region 6285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9444 Neighboring gene PIGB opposite strand 1 Neighboring gene NANOG hESC enhancer GRCh37_chr15:55644998-55645641 Neighboring gene DNAAF4-CCPG1 readthrough (NMD candidate) Neighboring gene ReSE screen-validated silencer GRCh37_chr15:55674784-55674963 Neighboring gene cell cycle progression 1 Neighboring gene microRNA 628 Neighboring gene Sharpr-MPRA regulatory region 6559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9447 Neighboring gene piercer of microtubule wall 2 Neighboring gene dynein axonemal assembly factor 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. Palagano E, et al. Bone, 2021 Dec. PMID 34400385
  2. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. Murakami Y, et al. Am J Hum Genet, 2019 Aug 1. PMID 31256876, Free PMC Article
  3. siRNA-mediated inhibition of phosphatidylinositol glycan Class B (PIGB) confers resistance to methylmercury in HEK293 cells. Hwang GW, et al. J Toxicol Sci, 2007 Dec. PMID 18198489
  4. Glycoinositol phospholipid anchor-defective K562 mutants with biochemical lesions distinct from those in Thy-1- murine lymphoma mutants. Mohney RP, et al. J Biol Chem, 1994 Mar 4. PMID 7907094
  5. 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. Eisenhaber B, et al. Cell Cycle, 2018. PMID 29764287, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC21236

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 mannosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in preassembly of GPI anchor in ER membrane TAS
Traceable Author Statement
more info
  
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
XP_005254852.1
XP_011520537.1
XP_011520538.1
XP_011520539.1
XP_016878219.1
XP_016878220.1
XP_047289319.1
XP_047289320.1
XP_047289321.1
XP_054235212.1
XP_054235213.1
XP_054235214.1
XP_054235215.1
XP_054235216.1
XP_054235217.1
XP_054235218.1
XP_054235219.1
XP_054235220.1

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)

  1. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    55319222..55355648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. XM_047433363.1 → XP_047289319.1  GPI mannosyltransferase 3 isoform X3

  4. XM_047433364.1 → XP_047289320.1  GPI mannosyltransferase 3 isoform X4

  5. 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

  6. 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

  7. XM_047433365.1 → XP_047289321.1  GPI mannosyltransferase 3 isoform X5

  8. 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

  9. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    53122411..53158836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379237.1 → XP_054235212.1  GPI mannosyltransferase 3 isoform X1

  2. XM_054379238.1 → XP_054235213.1  GPI mannosyltransferase 3 isoform X2

  3. XM_054379241.1 → XP_054235216.1  GPI mannosyltransferase 3 isoform X3

  4. XM_054379242.1 → XP_054235217.1  GPI mannosyltransferase 3 isoform X3

  5. XM_054379243.1 → XP_054235218.1  GPI mannosyltransferase 3 isoform X4

  6. XM_054379245.1 → XP_054235220.1  GPI mannosyltransferase 3 isoform X5

  7. XM_054379239.1 → XP_054235214.1  GPI mannosyltransferase 3 isoform X3

  8. XM_054379240.1 → XP_054235215.1  GPI mannosyltransferase 3 isoform X3

  9. XM_054379244.1 → XP_054235219.1  GPI mannosyltransferase 3 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92521.1 GenPept UniProtKB/Swiss-Prot:Q92521

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