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    PGAP1 post-GPI attachment to proteins inositol deacylase 1 [ Homo sapiens (human) ]

    Gene ID: 80055, updated on 17-Jun-2024

    Summary

    Official Symbol
    PGAP1provided by HGNC
    Official Full Name
    post-GPI attachment to proteins inositol deacylase 1provided by HGNC
    Primary source
    HGNC:HGNC:25712
    See related
    Ensembl:ENSG00000197121 MIM:611655; AllianceGenome:HGNC:25712
    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
    Bst1; MRT42; SPG67; NEDDSBA; ISPD3024
    Summary
    The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in adrenal (RPKM 6.0), brain (RPKM 5.4) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PGAP1 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (196833004..196926707, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (197316688..197410380, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (197697728..197791431, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16914 Neighboring gene general transcription factor IIIC subunit 3 Neighboring gene chromosome 2 open reading frame 66 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12207 Neighboring gene ankyrin repeat domain 44 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 15 Neighboring gene ribosomal protein L4 pseudogene 7

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual disability, autosomal recessive 42
    MedGen: C4014343 OMIM: 615802 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ42774

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity, acting on ester bonds TAS
    Traceable Author Statement
    more info
     
    enables phosphatidylinositol deacylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol deacylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in GPI anchor metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in anterior/posterior axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in attachment of GPI anchor to protein TAS
    Traceable Author Statement
    more info
     
    involved_in embryonic pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in forebrain regionalization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ER to Golgi vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    GPI inositol-deacylase
    Names
    post-GPI attachment to proteins 1
    post-GPI attachment to proteins factor 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_046780.1 RefSeqGene

      Range
      5289..98992
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321099.2NP_001308028.1  GPI inositol-deacylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AB128038, AC012486, AC017035, BX648642, DN992948
      UniProtKB/Swiss-Prot
      Q75T13
      Conserved Domains (1) summary
      pfam07819
      Location:1128
      PGAP1; PGAP1-like protein
    2. NM_001321100.2NP_001308029.1  GPI inositol-deacylase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AB128038, AC012486, DN992948
      UniProtKB/Swiss-Prot
      Q75T13
    3. NM_024989.4NP_079265.2  GPI inositol-deacylase isoform 1

      See identical proteins and their annotated locations for NP_079265.2

      Status: REVIEWED

      Source sequence(s)
      AB128038, AC012486, AK022439
      Consensus CDS
      CCDS2318.1
      UniProtKB/Swiss-Prot
      Q4G0R8, Q4ZG47, Q53SM0, Q6AW92, Q6UWV4, Q75T13, Q9HA24
      Related
      ENSP00000346809.3, ENST00000354764.9
      Conserved Domains (1) summary
      pfam07819
      Location:83302
      PGAP1; PGAP1-like protein

    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
      196833004..196926707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004993.2XP_016860482.1  GPI inositol-deacylase isoform X1

      UniProtKB/Swiss-Prot
      Q75T13
      Conserved Domains (1) summary
      pfam07819
      Location:1128
      PGAP1; PGAP1-like protein
    2. XM_017004992.1XP_016860481.1  GPI inositol-deacylase isoform X1

      UniProtKB/Swiss-Prot
      Q75T13
      Conserved Domains (1) summary
      pfam07819
      Location:1128
      PGAP1; PGAP1-like protein
    3. XM_047445910.1XP_047301866.1  GPI inositol-deacylase isoform X2

    RNA

    1. XR_007082522.1 RNA Sequence

    2. XR_001738960.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      197316688..197410380 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344012.1XP_054199987.1  GPI inositol-deacylase isoform X1

    2. XM_054344011.1XP_054199986.1  GPI inositol-deacylase isoform X1

    3. XM_054344013.1XP_054199988.1  GPI inositol-deacylase isoform X2

    RNA

    1. XR_008486527.1 RNA Sequence

    2. XR_008486528.1 RNA Sequence