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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
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:54473000-54557684 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 27.25 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    569 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443342
protein coding gene Chr1:54472994-54557684 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016026
protein coding gene Chr1:54138963-54238256 (-)
A/J MGP_AJ_G0016009
protein coding gene Chr1:52269449-52357866 (-)
AKR/J MGP_AKRJ_G0015965
protein coding gene Chr1:53668445-53761873 (-)
BALB/cJ MGP_BALBcJ_G0015964
protein coding gene Chr1:52323153-52409455 (-)
C3H/HeJ MGP_C3HHeJ_G0015796
protein coding gene Chr1:53922119-54017404 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016417
protein coding gene Chr1:56394828-56485186 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014139
protein coding gene Chr1:48369415-48457763 (-)
CAST/EiJ MGP_CASTEiJ_G0015378
protein coding gene Chr1:53192307-53284241 (-)
CBA/J MGP_CBAJ_G0015768
protein coding gene Chr1:57965249-58076642 (-)
DBA/2J MGP_DBA2J_G0015869
protein coding gene Chr1:51700820-51785847 (-)
FVB/NJ MGP_FVBNJ_G0015871
protein coding gene Chr1:51056485-51141202 (-)
LP/J MGP_LPJ_G0015941
protein coding gene Chr1:54974403-55064819 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015891
protein coding gene Chr1:61115263-61209731 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016464
protein coding gene Chr1:53640707-53734793 (-)
PWK/PhJ MGP_PWKPhJ_G0015164
protein coding gene Chr1:51054166-51142706 (-)
SPRET/EiJ MGP_SPRETEiJ_G0014945
protein coding gene Chr1:53236147-53306008 (-)
WSB/EiJ MGP_WSBEiJ_G0015441
protein coding gene Chr1:53318690-53409012 (-)



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
less
  • 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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 241062 NCBI Gene Model | MGI Sequence Detail 84685 C57BL/6J ±  kb
    transcript NM_001163314 RefSeq | MGI Sequence Detail 10579 C57BL/6  
    polypeptide Q3UUQ7 UniProt | EBI | MGI Sequence Detail 922 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 67
      cDNA 67

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13085, MGI:1923226, MGI:2444805, MGI:97449
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 4
      Gene Ontology 8
      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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory