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

    Gene ID: 9488, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See PIGB in Genome Data Viewer
    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_000015.10Genomic 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. 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
    3. 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
    4. 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
    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
    		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)

    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 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
    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_2024_08

    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

      UniProtKB/TrEMBL
      B4DEK1

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

      UniProtKB/TrEMBL
      B4DEK1

    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

      UniProtKB/TrEMBL
      B2RBK6, F5H1S1

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

      UniProtKB/TrEMBL
      F5H1S1

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

      UniProtKB/TrEMBL
      B4DEK1

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

      UniProtKB/TrEMBL
      B4DEK1

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

      UniProtKB/TrEMBL
      B4DEK1

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

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

      UniProtKB/TrEMBL
      B4DEK1

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

      UniProtKB/TrEMBL
      B4DEK1

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

      UniProtKB/TrEMBL
      B4DEK1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92521.1 GenPept UniProtKB/Swiss-Prot:Q92521

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