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Protein Coding Gene : Pgap1 post-GPI attachment to proteins 1

Primary Identifier  MGI:2443342 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  241062
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable phosphatidylinositol deacylase activity. Acts upstream of or within embryonic pattern specification; regionalization; and sensory perception of sound. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including brain; genitourinary system; and neural ectoderm. Used to study holoprosencephaly. Orthologous to human PGAP1 (post-GPI attachment to proteins inositol deacylase 1).
PHENOTYPE: Mutations in this gene result in a variety of forebrain, eye, jaw, craniofacial, ear, and vertebra defects that are background sensitive. [provided by MGI curators]
  • synonyms:
  • post-GPI attachment to proteins 1,
  • 5033403E17Rik,
  • MGI:97449,
  • oto,
  • MGD-MRK-13085,
  • RIKEN cDNA 5033403E17 gene,
  • 9030223K07Rik,
  • RIKEN cDNA 9030223K07 gene,
  • PGAP1,
  • MGI:2444805,
  • Pgap1,
  • MGI:1923226,
  • otocephaly,
  • D230012E17Rik,
  • RIKEN cDNA D230012E17 gene

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Genome

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3 Involved In Mutations

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0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

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Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

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Expression

Gene --> Expression annotations

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Disease

Mouse features --> Human diseases

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