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    PIGZ phosphatidylinositol glycan anchor biosynthesis class Z [ Homo sapiens (human) ]

    Gene ID: 80235, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PIGZprovided by HGNC
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis class Zprovided by HGNC
    Primary source
    HGNC:HGNC:30596
    See related
    Ensembl:ENSG00000119227 MIM:611671; AllianceGenome:HGNC:30596
    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
    SMP3; PIG-Z; GPI-MT-IV
    Summary
    The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in colon (RPKM 5.3), brain (RPKM 1.9) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PIGZ in Genome Data Viewer
    Location:
    3q29
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196946356..196968833, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199672412..199695067, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196673227..196695704, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene nuclear cap binding protein subunit 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196668731-196669404 Neighboring gene NCBP2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196669405-196670078 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:196670753-196671426 Neighboring gene NCBP2 antisense 2 (head to head) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196674955-196675702 Neighboring gene Sharpr-MPRA regulatory region 11589 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196695281-196695816 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196695817-196696352 Neighboring gene collagen alpha-1(I) chain-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196696353-196696888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21106 Neighboring gene 40S ribosomal protein SA-like

    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 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. Human Smp3p adds a fourth mannose to yeast and human glycosylphosphatidylinositol precursors in vivo. Taron BW, et al. J Biol Chem, 2004 Aug 20. PMID 15208306
    2. Enzymes and auxiliary factors for GPI lipid anchor biosynthesis and post-translational transfer to proteins. Eisenhaber B, et al. Bioessays, 2003 Apr. PMID 12655644
    3. The essential Smp3 protein is required for addition of the side-branching fourth mannose during assembly of yeast glycosylphosphatidylinositols. Grimme SJ, et al. J Biol Chem, 2001 Jul 20. PMID 11356840
    4. Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate. Oriol R, et al. Mol Biol Evol, 2002 Sep. PMID 12200473
    5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. publication also discusses human SMP3
      Title: The essential Smp3 protein is required for addition of the side-branching fourth mannose during assembly of yeast glycosylphosphatidylinositols.
    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

    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

    • FLJ12768, MGC52163

    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 alpha-1,2-mannosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables mannosyltransferase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables mannosyltransferase activity IGI
    Inferred from Genetic Interaction
    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 IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in GPI anchor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in GPI anchor biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    GPI mannosyltransferase 4
    Names
    GPI mannosyltransferase IV
    SMP3 mannosyltransferase
    dol-P-Man dependent GPI mannosyltransferase
    phosphatidylinositol glycan, class Z
    phosphatidylinositol-glycan biosynthesis class Z 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.

    mRNA and Protein(s)

    1. NM_025163.4 → NP_079439.2  GPI mannosyltransferase 4

      See identical proteins and their annotated locations for NP_079439.2

      Status: REVIEWED

      Source sequence(s)
      AK022830, AK296867, BC018804, BG760692, BX493581
      Consensus CDS
      CCDS3324.1
      UniProtKB/Swiss-Prot
      Q86VD9, Q9H9G6
      Related
      ENSP00000413405.1, ENST00000412723.6
      Conserved Domains (1) summary
      cl21590
      Location:44 → 391
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      196946356..196968833 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513192.3 → XP_011511494.1  GPI mannosyltransferase 4 isoform X2

      See identical proteins and their annotated locations for XP_011511494.1

      Conserved Domains (1) summary
      cl21590
      Location:83 → 430
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    2. XM_047448993.1 → XP_047304949.1  GPI mannosyltransferase 4 isoform X2

    3. XM_024453767.2 → XP_024309535.1  GPI mannosyltransferase 4 isoform X1

      Conserved Domains (1) summary
      cl21590
      Location:109 → 456
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    4. XM_024453766.2 → XP_024309534.1  GPI mannosyltransferase 4 isoform X1

      Conserved Domains (1) summary
      cl21590
      Location:109 → 456
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    5. XM_017007241.2 → XP_016862730.1  GPI mannosyltransferase 4 isoform X1

      Conserved Domains (1) summary
      cl21590
      Location:109 → 456
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    6. XM_017007243.2 → XP_016862732.1  GPI mannosyltransferase 4 isoform X3

      UniProtKB/TrEMBL
      B4DL68
      Conserved Domains (1) summary
      cl21590
      Location:5 → 241
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      199672412..199695067 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347966.1 → XP_054203941.1  GPI mannosyltransferase 4 isoform X1

    2. XM_054347970.1 → XP_054203945.1  GPI mannosyltransferase 4 isoform X2

    3. XM_054347969.1 → XP_054203944.1  GPI mannosyltransferase 4 isoform X2

    4. XM_054347968.1 → XP_054203943.1  GPI mannosyltransferase 4 isoform X1

    5. XM_054347967.1 → XP_054203942.1  GPI mannosyltransferase 4 isoform X1

    6. XM_054347965.1 → XP_054203940.1  GPI mannosyltransferase 4 isoform X1

    7. XM_054347971.1 → XP_054203946.1  GPI mannosyltransferase 4 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VD9.4 GenPept UniProtKB/Swiss-Prot:Q86VD9

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