PGAP1

Post-GPI attachment to proteins 1 is a protein that in humans is encoded by the PGAP1 gene.[5]

PGAP1
Identifiers
AliasesPGAP1, Bst1, ISPD3024, MRT42, SPG67, post-GPI attachment to proteins 1, post-GPI attachment to proteins inositol deacylase 1, NEDDSBA
External IDsOMIM: 611655 MGI: 2443342 HomoloGene: 41605 GeneCards: PGAP1
Orthologs
SpeciesHumanMouse
Entrez

80055

241062

Ensembl

ENSG00000197121

ENSMUSG00000073678

UniProt

Q75T13

Q3UUQ7

RefSeq (mRNA)

NM_024989
NM_001321099
NM_001321100

NM_001163314
NM_175508

RefSeq (protein)

NP_001308028
NP_001308029
NP_079265

NP_001156786

Location (UCSC)Chr 2: 196.83 – 196.93 MbChr 1: 54.51 – 54.6 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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 of mental retardation, autosomal recessive 42.

References

  1. GRCh38: Ensembl release 89: ENSG00000197121 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000073678 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Post-GPI attachment to proteins 1". Retrieved 2016-04-04.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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