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    PIGF phosphatidylinositol glycan anchor biosynthesis class F [ Homo sapiens (human) ]

    Gene ID: 5281, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PIGFprovided by HGNC
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis class Fprovided by HGNC
    Primary source
    HGNC:HGNC:8962
    See related
    Ensembl:ENSG00000151665 MIM:600153; AllianceGenome:HGNC:8962
    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
    OORS
    Summary
    This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Annotation information
    Note: PGF (Gene ID: 5228) and PIGF (Gene ID: 5281) share the PIGF symbol/alias in common. PIGF is a widely used alternative gene symbol for placental growth factor (PGF), which can be confused with the official symbol for phosphatidylinositol glycan anchor biosynthesis class F (PIGF). [06 Jul 2018]
    Expression
    Ubiquitous expression in fat (RPKM 42.1), heart (RPKM 35.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See PIGF in Genome Data Viewer
    Location:
    2p21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (46580937..46617041, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (46585925..46622034, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (46808076..46844180, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V1 subunit E2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11450 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15711 Neighboring gene ras homolog family member Q Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15713 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15714 Neighboring gene RHOQ antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:46813126-46813309 Neighboring gene uncharacterized LOC124906003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11452 Neighboring gene CXXC repeat containing interactor of PDZ3 domain Neighboring gene uncharacterized LOC105374584

    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. Expression cloning of genes for GPI-anchor biosynthesis. Kinoshita T, et al. Braz J Med Biol Res, 1994 Feb. PMID 8081220
    2. Cloning of a human gene, PIG-F, a component of glycosylphosphatidylinositol anchor biosynthesis, by a novel expression cloning strategy. Inoue N, et al. J Biol Chem, 1993 Apr 5. PMID 8463218
    3. New insights into the functions of PIGF, a protein involved in the ethanolamine phosphate transfer steps of glycosylphosphatidylinositol biosynthesis. Stokes MJ, et al. Biochem J, 2014 Oct 15. PMID 25074286
    4. PIGF deficiency causes a phenotype overlapping with DOORS syndrome. Salian S, et al. Hum Genet, 2021 Jun. PMID 33386993
    5. Retinal reactive astrocytic tumor: gene expression profiling. Shehri M, et al. JAMA Ophthalmol, 2014 Jun. PMID 24921169

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
      Title: PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
    2. A highly conserved motif in PIGF is not involved in binding to PIGO or PIGG, but critical for its function.
      Title: New insights into the functions of PIGF, a protein involved in the ethanolamine phosphate transfer steps of glycosylphosphatidylinositol biosynthesis.
    3. PIGF gene is upregulated in patients diagnosed with retinal reactive astrocytic tumors.
      Title: Retinal reactive astrocytic tumor: gene expression profiling.
    4. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
    5. mechanism for the regulation of glycosylphosphatidylinositols synthesis
      Title: GPI7 is the second partner of PIG-F and involved in modification of glycosylphosphatidylinositol.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
    MedGen: C5543496 OMIM: 619356 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of phosphatidylinositol glycan anchor biosynthesis, class F (PIGF) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • MGC32646, MGC33136

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ethanolaminephosphotransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables mannose-ethanolamine phosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in GPI anchor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in GPI anchor biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol-glycan biosynthesis class F protein
    Names
    GPI11 homolog
    PIG-F
    NP_002634.1
    NP_775097.1
    XP_005264426.1
    XP_011531210.1
    XP_054198541.1
    XP_054198542.1

    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_002643.4 → NP_002634.1  phosphatidylinositol-glycan biosynthesis class F protein isoform 1

      See identical proteins and their annotated locations for NP_002634.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC018682, BC029408
      Consensus CDS
      CCDS1827.1
      UniProtKB/Swiss-Prot
      Q07326, Q8WW20
      UniProtKB/TrEMBL
      A8K4Z3, Q6IB04
      Related
      ENSP00000281382.6, ENST00000281382.11
      Conserved Domains (1) summary
      pfam06699
      Location:21 → 204
      PIG-F; GPI biosynthesis protein family Pig-F

    2. NM_173074.3 → NP_775097.1  phosphatidylinositol-glycan biosynthesis class F protein isoform 2

      See identical proteins and their annotated locations for NP_775097.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC018682, BC029408
      Consensus CDS
      CCDS1828.1
      UniProtKB/TrEMBL
      A8K4Z3
      Related
      ENSP00000302663.4, ENST00000306465.8
      Conserved Domains (1) summary
      pfam06699
      Location:21 → 182
      PIG-F; GPI biosynthesis protein family Pig-F

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      46580937..46617041 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532908.4 → XP_011531210.1  phosphatidylinositol-glycan biosynthesis class F protein isoform X1

      UniProtKB/TrEMBL
      A8K4Z3
      Conserved Domains (1) summary
      pfam06699
      Location:21 → 185
      PIG-F; GPI biosynthesis protein family Pig-F

    2. XM_005264369.4 → XP_005264426.1  phosphatidylinositol-glycan biosynthesis class F protein isoform X2

      See identical proteins and their annotated locations for XP_005264426.1

      UniProtKB/TrEMBL
      A8K4Z3, H7C392
      Related
      ENSP00000410361.2, ENST00000420164.6
      Conserved Domains (1) summary
      pfam06699
      Location:21 → 183
      PIG-F; GPI biosynthesis protein family Pig-F

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      46585925..46622034 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342566.1 → XP_054198541.1  phosphatidylinositol-glycan biosynthesis class F protein isoform X1

    2. XM_054342567.1 → XP_054198542.1  phosphatidylinositol-glycan biosynthesis class F protein isoform X2

      UniProtKB/TrEMBL
      H7C392
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q07326.1 GenPept UniProtKB/Swiss-Prot:Q07326

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