ENSMUSG00000025017


Mus musculus

Features
Gene ID: ENSMUSG00000025017
  
Biological name :Pik3ap1
  
Synonyms : phosphoinositide-3-kinase adaptor protein 1 / Pik3ap1 / Q9EQ32
  
Possible biological names infered from orthology : Q6ZUJ8
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: C3
Gene start: 41274218
Gene end: 41385070
  
Corresponding Affymetrix probe sets: 10467578 (MoGene1.0st)   1421285_at (Mouse Genome 430 2.0 Array)   1429831_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000052777
NCBI entrez gene - 83490     See in Manteia.
MGI - MGI:1933177
RefSeq - NM_031376
RefSeq - XM_006527472
RefSeq Peptide - NP_113553
swissprot - Q9EQ32
Ensembl - ENSMUSG00000025017
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pik3ap1ENSDARG00000078285Danio rerio
 Q9DDT2ENSGALG00000005547Gallus gallus
 Q6ZUJ8ENSG00000155629Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Bank1 / Q80VH0 / B-cell scaffold protein with ankyrin repeats / Q8NDB2* / B cell scaffold protein with ankyrin repeats 1*ENSMUSG0000003792221


Protein motifs (from Interpro)
Interpro ID Name
 IPR017893  DBB domain
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IMP
 biological_processGO:0034134 toll-like receptor 2 signaling pathway IMP
 biological_processGO:0034142 toll-like receptor 4 signaling pathway IMP
 biological_processGO:0034154 toll-like receptor 7 signaling pathway IMP
 biological_processGO:0034162 toll-like receptor 9 signaling pathway IMP
 biological_processGO:0050727 regulation of inflammatory response IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0036312 phosphatidylinositol 3-kinase regulatory subunit binding IDA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
PIP3 activates AKT signaling
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000694 spleen hypoplasia "small size due to reduced cell number in the spleen" [J:43971]
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Allelic Composition: Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: C57BL/6

 MP:0001802 arrested B cell development "inability to produce mature B cells, and accumulation of B cell precursors" [J:52607]
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Allelic Composition: Pik3ap1m1Btlr/Pik3ap1m1Btlr
Genetic Background: involves: C57BL/6J

 MP:0001806 decreased IgM "less than normal immunoglobulin class M level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: C57BL/6

Allelic Composition: Pik3ap1m1Btlr/Pik3ap1m1Btlr
Genetic Background: involves: C57BL/6J

 MP:0002144 abnormal B lymphocyte development "atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: C57BL/6

 MP:0002460 decreased circulating immunoglobulin concentration "less than normal immunoglobulin level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: C57BL/6

 MP:0002494 increased IgM "greater than normal immunoglobulin class M level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ankfy1Gt(RRE069)Byg/Ankfy1Gt(RRE069)Byg
Genetic Background: C.129P2(B6)-Ankfy1Gt(RRE069)Byg

 MP:0005017 decreased B cell number "fewer than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: C57BL/6

 MP:0005093 impaired B cell proliferation "absent or reduced ability of B cells to grow and divide in response to stimuli " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: C57BL/6

 MP:0008168 decreased B-1a cell number "reduced number of the B-1 B cell subset bearing the CD5 surface marker" [CL:0000820, PMID:11861604]
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Allelic Composition: Ankfy1Gt(RRE069)Byg/Ankfy1Gt(RRE069)Byg
Genetic Background: C.129P2(B6)-Ankfy1Gt(RRE069)Byg

 MP:0008169 increased B-1b cell number "greater number of the B-1 B cell subset not bearing the CD5 surface marker, but having other phenotypic attributes of a B-1 B cell" [CL:0000821, PMID:11861604]
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Allelic Composition: Ankfy1Gt(RRE069)Byg/Ankfy1Gt(RRE069)Byg
Genetic Background: C.129P2(B6)-Ankfy1Gt(RRE069)Byg

 MP:0008174 decreased follicular B cell number "reduced number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes" [CL:0000843, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: C57BL/6

 MP:0008203 absent B-1a cells "absence of the B-1 B cell subset bearing the CD5 surface marker" [CL:0000820, PMID:11861604]
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Allelic Composition: Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: C57BL/6

 MP:0008209 decreased pre-B cell number "reduced number of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]
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Allelic Composition: Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: C57BL/6

 MP:0008497 decreased IgG2b level "less than normal immunoglobulin class G2b level" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
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Allelic Composition: Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: C57BL/6

 MP:0008498 decreased IgG3 level "less than normal immunoglobulin class G3 level" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
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Allelic Composition: Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: C57BL/6

 MP:0020154 impaired humoral immune response "impaired response of the immune system that mediates secreted antibodies produced in B cells" [GOC:NV]
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Allelic Composition: Ankfy1Gt(RRE069)Byg/Ankfy1Gt(RRE069)Byg
Genetic Background: C.129P2(B6)-Ankfy1Gt(RRE069)Byg

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000041417 P26450 / Pik3r1 / phosphoinositide-3-kinase regulatory subunit 1 / P27986*  / complex
 ENSMUSG00000039936 O35904 / Pik3cd / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta / O00329*  / complex






 

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