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    PGAP3 post-GPI attachment to proteins phospholipase 3 [ Homo sapiens (human) ]

    Gene ID: 93210, updated on 6-Jun-2024

    Summary

    Official Symbol
    PGAP3provided by HGNC
    Official Full Name
    post-GPI attachment to proteins phospholipase 3provided by HGNC
    Primary source
    HGNC:HGNC:23719
    See related
    Ensembl:ENSG00000161395 MIM:611801; AllianceGenome:HGNC:23719
    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
    CAB2; PERLD1; PP1498; hCOS16; AGLA546
    Summary
    This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in thyroid (RPKM 14.6), skin (RPKM 9.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PGAP3 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39671122..39688057, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40534687..40551623, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37827375..37844310, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37822021-37822758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37822759-37823496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12101 Neighboring gene titin-cap Neighboring gene VISTA enhancer hs1769 Neighboring gene phenylethanolamine N-methyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37835782-37836282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12103 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:37845149-37846109 Neighboring gene erb-b2 receptor tyrosine kinase 2 Neighboring gene Sharpr-MPRA regulatory region 353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37857299-37857800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37857801-37858300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37861047-37861919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37882556-37883528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8463 Neighboring gene microRNA 4728 Neighboring gene migration and invasion enhancer 1

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC9753

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity, acting on ester bonds IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hydrolase activity, acting on ester bonds IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in GPI anchor metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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 

    General protein information

    Preferred Names
    post-GPI attachment to proteins factor 3
    Names
    COS16 homolog
    gene coamplified with ERBB2 protein
    per1-like domain containing 1
    post-GPI attachment to proteins 3

    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_034125.1 RefSeqGene

      Range
      5014..21949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291726.2NP_001278655.1  post-GPI attachment to proteins factor 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001278655.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. It encodes a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK075474, BC010652, DC389056
      Consensus CDS
      CCDS77013.1
      UniProtKB/Swiss-Prot
      Q96FM1
      Related
      ENSP00000367250.4, ENST00000378011.8
      Conserved Domains (1) summary
      pfam04080
      Location:54255
      Per1; Per1-like
    2. NM_001291728.2NP_001278657.1  post-GPI attachment to proteins factor 3 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001278657.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1. It encodes a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AK294639, BC010652
      Consensus CDS
      CCDS77015.1
      UniProtKB/TrEMBL
      B4DVJ3, B6ZDN2
      Related
      ENSP00000415765.2, ENST00000429199.6
      Conserved Domains (1) summary
      pfam04080
      Location:54285
      Per1; Per1-like
    3. NM_001291730.2NP_001278659.1  post-GPI attachment to proteins factor 3 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two in-frame exons in the 3' coding region, compared to variant 1. It encodes a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      BC010652, BG472165, DC389056
      UniProtKB/Swiss-Prot
      Q96FM1
      Conserved Domains (1) summary
      cl02172
      Location:54185
      Per1; Per1-like
    4. NM_001291732.2NP_001278661.1  post-GPI attachment to proteins factor 3 isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three in-frame exons in the 3' coding region, compared to variant 1. It encodes a shorter protein (isoform 5), compared to isoform 1.
      Source sequence(s)
      BC010652, DC389056
      UniProtKB/Swiss-Prot
      Q96FM1
      Conserved Domains (1) summary
      cl02172
      Location:54164
      Per1; Per1-like
    5. NM_001291733.2NP_001278662.1  post-GPI attachment to proteins factor 3 isoform 6 precursor

      See identical proteins and their annotated locations for NP_001278662.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks four exons in the 3' coding region, compared to variant 1. It encodes a shorter protein (isoform 6) with a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK289612, BC010652, DC389056
      Consensus CDS
      CCDS77014.1
      UniProtKB/TrEMBL
      J3KTJ2, J3QKU0
      Related
      ENSP00000463234.1, ENST00000579146.5
      Conserved Domains (1) summary
      cl02172
      Location:54146
      Per1; Per1-like
    6. NM_033419.5NP_219487.3  post-GPI attachment to proteins factor 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_219487.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC010652, DC389056
      Consensus CDS
      CCDS32641.1
      UniProtKB/Swiss-Prot
      B4DGK7, Q86Z03, Q8NBJ8, Q96FM1
      UniProtKB/TrEMBL
      B4DVJ3, B6ZDN2
      Related
      ENSP00000300658.4, ENST00000300658.9
      Conserved Domains (1) summary
      cl02172
      Location:54306
      Per1; Per1-like

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      39671122..39688057 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525480.2XP_011523782.1  post-GPI attachment to proteins factor 3 isoform X1

      Conserved Domains (1) summary
      pfam04080
      Location:54231
      Per1; Per1-like
    2. XM_047437082.1XP_047293038.1  post-GPI attachment to proteins factor 3 isoform X2

    3. XM_047437083.1XP_047293039.1  post-GPI attachment to proteins factor 3 isoform X3

      UniProtKB/TrEMBL
      J3KTJ2
      Related
      ENSP00000463011.1, ENST00000584620.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40534687..40551623 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317811.1XP_054173786.1  post-GPI attachment to proteins factor 3 isoform X1

    2. XM_054317812.1XP_054173787.1  post-GPI attachment to proteins factor 3 isoform X2

    3. XM_054317813.1XP_054173788.1  post-GPI attachment to proteins factor 3 isoform X3

      UniProtKB/TrEMBL
      J3KTJ2