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Gene : PGAP1 Homo sapiens

Name  ? post-GPI attachment to proteins inositol deacylase 1 Cytological Location  2q33.1
Brief Description  post-GPI attachment to proteins inositol deacylase 1
Description  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]
  • synonyms:
  • OTTHUMG00000132743,
  • HGNC:25712,
  • Bst1,
  • Bst1,
  • post-GPI attachment to proteins 1,
  • NM_024989,
  • SPG67,
  • GPI inositol-deacylase,
  • SPG67,
  • uc002utw.4,
  • ISPD3024,
  • MRT42,
  • FLJ12377,
  • PGAP1
  • identifiers:
  • 80055,
  • ENSG00000197121,
  • PGAP1

Genome feature

Region: gene ? Length: 93992  
Location: 2:196833004-196926995 reverse strand Cyto location: 2q33.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

532 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results