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Pik3ap1 Gene Detail
Summary
  • Symbol
    Pik3ap1
  • Name
    phosphoinositide-3-kinase adaptor protein 1
  • Synonyms
    1810044J04Rik, BCAP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1933177
    NCBI Gene: 83490
  • Alliance
  • Transcription Start Sites
    45 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:41260980-41373541 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 19, 34.61 cM, cytoband D1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3456 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1933177
protein coding gene Chr19:41260816-41373541 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025122
protein coding gene Chr19:40538503-40659126 (-)
A/J MGP_AJ_G0025099
protein coding gene Chr19:38589168-38704406 (-)
AKR/J MGP_AKRJ_G0025067
protein coding gene Chr19:39867825-39982494 (-)
BALB/cJ MGP_BALBcJ_G0025093
protein coding gene Chr19:38640818-38758335 (-)
C3H/HeJ MGP_C3HHeJ_G0024853
protein coding gene Chr19:40004085-40121709 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025537
protein coding gene Chr19:41622035-41740408 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022950
protein coding gene Chr19:37955552-38068174 (-)
CAST/EiJ MGP_CASTEiJ_G0024318
protein coding gene Chr19:39646622-39763406 (-)
CBA/J MGP_CBAJ_G0024833
protein coding gene Chr19:43638908-43765279 (-)
DBA/2J MGP_DBA2J_G0024965
protein coding gene Chr19:38450868-38562611 (-)
FVB/NJ MGP_FVBNJ_G0024926
protein coding gene Chr19:38210969-38325004 (-)
LP/J MGP_LPJ_G0025051
protein coding gene Chr19:40549108-40664696 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024957
protein coding gene Chr19:43292755-43411483 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025594
protein coding gene Chr19:39893537-40012819 (-)
PWK/PhJ MGP_PWKPhJ_G0024068
protein coding gene Chr19:38311197-38423874 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023871
protein coding gene Chr19:38627481-38742688 (-)
WSB/EiJ MGP_WSBEiJ_G0024388
protein coding gene Chr19:40061280-40177342 (-)



Homology
more
  • Human Ortholog
    PIK3AP1, phosphoinositide-3-kinase adaptor protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PIK3AP1, phosphoinositide-3-kinase adaptor protein 1
  • Synonyms
    BCAP
  • Links
    NCBI Gene ID: 118788
    neXtProt AC: NX_Q6ZUJ8
    UniProt: Q6ZUJ8

  • Chr Location
    10q24.1; chr10:96593315-96720514 (-)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    22 phenotypes from 5 alleles in 5 genetic backgrounds
    24 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.
Mice homozygous for disruptions in this gene have abnormalities in B cell maturation.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
  • cDNA Data
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 83490 NCBI Gene Model | MGI Sequence Detail 112562 C57BL/6J ±  kb
    transcript NM_031376 RefSeq | MGI Sequence Detail 4113 C57BL/6  
    polypeptide Q9EQ32 UniProt | EBI | MGI Sequence Detail 811 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000012714 phosphoinositide 3-kinase adapter protein 1
    • InterPro Domains
      IPR052446 B-cell PI3K Activation and Signaling Adapters
      IPR017893 DBB domain
      IPR041340 PIK3AP1, Toll/interleukin-1 receptor domain
      IPR000157 Toll/interleukin-1 receptor homology (TIR) domain
      IPR035897 Toll/interleukin-1 receptor homology (TIR) domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 40
      cDNA 40

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1919285
    References
    more
    • Summaries
      All 49
      Gene Ontology 6
      Phenotypes 24
    • Earliest
      J:66479 Okada T, et al., BCAP: the tyrosine kinase substrate that connects B cell receptor to phosphoinositide 3-kinase activation. Immunity. 2000 Dec;13(6):817-27
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    11/12/2024
    MGI 6.24
    The Jackson Laboratory