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

Gene ID: 5281, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (46580937..46617041, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (46585925..46622034, complement)
105.20220307 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
  • 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. PIGF deficiency causes a phenotype overlapping with DOORS syndrome. Salian S, et al. Hum Genet, 2021 Jun. PMID 33386993
  2. 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
  3. 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
  4. Expression cloning of genes for GPI-anchor biosynthesis. Kinoshita T, et al. Braz J Med Biol Res, 1994 Feb. PMID 8081220
  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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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
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_2023_10

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
    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

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

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