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

Gene ID: 93210, updated on 23-Nov-2021

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
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
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Genomic context

See PGAP3 in Genome Data Viewer
Location:
17q12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (39671122..39688057, complement)
105.20201022 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 titin-cap Neighboring gene VISTA enhancer hs1769 Neighboring gene phenylethanolamine N-methyltransferase Neighboring gene erb-b2 receptor tyrosine kinase 2 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

Homology

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
PubMed 
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
PubMed 
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
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in intrinsic component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in intrinsic component of 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)

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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.

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/Swiss-Prot
    Q96FM1
    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/Swiss-Prot
    Q96FM1
    UniProtKB/TrEMBL
    A8K0P7, 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
    Q96FM1
    Related
    ENSP00000300658.4, ENST00000300658.9
    Conserved Domains (1) summary
    cl02172
    Location:54306
    Per1; Per1-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 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_011525481.2XP_011523783.1  post-GPI attachment to proteins factor 3 isoform X2

    Conserved Domains (1) summary
    cl02172
    Location:30191
    Per1; Per1-like

RNA

  1. XR_002958086.1 RNA Sequence

    Related
    ENST00000309862.10
  2. XR_934601.1 RNA Sequence

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