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Pgap1 Gene Detail
Summary
  • Symbol
    Pgap1
  • Name
    post-GPI attachment to proteins 1
  • Synonyms
    5033403E17Rik, 9030223K07Rik, D230012E17Rik, oto, PGAP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443342
    NCBI Gene: 241062
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:54472994-54557684 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      84691 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 27.25 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PGAP1, post-GPI attachment to proteins 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PGAP1, post-GPI attachment to proteins 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    Bst1, ISPD3024, MRT42, SPG67
  • Links
    NCBI Gene ID: 80055
    neXtProt AC: NX_Q75T13
    UniProt: Q75T13

  • Chr Location
    2q33.1; chr2:196833004-196926995 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 41605
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PGAP1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human PGAP1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    39 phenotypes from 3 alleles in 5 genetic backgrounds
    4 phenotypes from multigenic genotypes
    1 images
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations in this gene result in a variety of forebrain, eye, jaw, craniofacial, ear, and vertebra defects that are background sensitive.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000046957 VEGA Gene Model | MGI Sequence Detail 84691 C57BL/6J ±  kb
    transcript OTTMUST00000121692 VEGA | MGI Sequence Detail 10583 Not Applicable  
    polypeptide OTTMUSP00000066982 VEGA | MGI Sequence Detail 922 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      569 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 64
      cDNA 64

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13085, MGI:1923226, MGI:2444805, MGI:97449
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 4
      Gene Ontology 6
      Phenotypes 14
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:253696 Feng S, et al., Abnormal Paraventricular Nucleus of Hypothalamus and Growth Retardation Associated with Loss of Nuclear Receptor Gene COUP-TFII. Sci Rep. 2017 Jul 13;7(1):5282

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory