PGAP1
Sign in to saveAlso known as Bst1, ISPD3024, MRT42, SPG67, post-GPI attachment to proteins 1, post-GPI attachment to proteins inositol deacylase 1, NEDDSBA
Genen från arten Homo sapiens
Gene data
PGAP1- Name
- post-GPI attachment to proteins inositol deacylase 1
- Type
- protein-coding
- Position
- 196,833,004–196,927,796 (−)
- Aliases
- Bst1, ISPD3024, MRT42, NEDDSBA, SPG67
- Ensembl
- ENSG00000197121
- RefSeq RNA
- NM_001321099.2, NM_001321100.2, NM_024989.4, XM_017004992.1, XM_017004993.2
- RefSeq protein
- NP_001308028.1, NP_001308029.1, NP_079265.2, XP_016860481.1, XP_016860482.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
post-GPI attachment to proteins inositol deacylase 1
- Symbol
- PGAP1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:196,833,004-196,927,796
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 41605
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/80055
- genomic end
- 197792520
- genomic start
- 197697728
- chromosome
- human chromosome 2
- cytogenetic location
- 2q33.1
Sources (3)
via Wikidata · CC0