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

Gene ID: 80055, updated on 13-Mar-2020

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
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; 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

Genomic context

See PGAP1 in Genome Data Viewer
Location:
2q33.1
Exon count:
31
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (196833004..196926995, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (197697728..197791454, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene general transcription factor IIIC subunit 3 Neighboring gene chromosome 2 open reading frame 66 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
Mental retardation, autosomal recessive 42
MedGen: C4014343 OMIM: 615802 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42774

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity, acting on ester bonds TAS
Traceable Author Statement
more info
 
nuclease activity ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol deacylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphoric ester hydrolase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GPI anchor metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
anterior/posterior axis specification IEA
Inferred from Electronic Annotation
more info
 
attachment of GPI anchor to protein TAS
Traceable Author Statement
more info
 
embryonic pattern specification IEA
Inferred from Electronic Annotation
more info
 
forebrain regionalization IEA
Inferred from Electronic Annotation
more info
 
myo-inositol transport ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
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)

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
    Q75T13
    Related
    ENSP00000346809.3, ENST00000354764.9
    Conserved Domains (1) summary
    pfam07819
    Location:83302
    PGAP1; PGAP1-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    196833004..196926995 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q75T13
    Conserved Domains (1) summary
    pfam07819
    Location:1128
    PGAP1; PGAP1-like protein
  2. XM_017004994.1XP_016860483.1  GPI inositol-deacylase isoform X2

  3. 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
  4. XM_024453156.1XP_024308924.1  GPI inositol-deacylase isoform X2

RNA

  1. XR_001738959.1 RNA Sequence

  2. XR_001738960.1 RNA Sequence

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