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    PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 [ Homo sapiens (human) ]

    Gene ID: 118788, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PIK3AP1provided by HGNC
    Official Full Name
    phosphoinositide-3-kinase adaptor protein 1provided by HGNC
    Primary source
    HGNC:HGNC:30034
    See related
    Ensembl:ENSG00000155629 MIM:607942; AllianceGenome:HGNC:30034
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BCAP
    Summary
    Predicted to enable phosphatidylinositol 3-kinase regulatory subunit binding activity and signaling receptor binding activity. Predicted to be involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; regulation of inflammatory response; and regulation of innate immune response. Predicted to be located in membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in spleen (RPKM 34.0), lymph node (RPKM 33.6) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PIK3AP1 in Genome Data Viewer
    Location:
    10q24.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (96593315..96720514, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (97474471..97601685, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (98353072..98480271, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98138703-98139212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98156871-98157399 Neighboring gene tolloid like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98201903-98202541 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:98210491-98210992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98246593-98247092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:98262485-98262985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98265857-98266640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98271755-98272274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3827 Neighboring gene transmembrane 9 superfamily member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98331950-98332450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98332451-98332951 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98339518-98340092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2654 Neighboring gene nucleophosmin 1 pseudogene 26 Neighboring gene uncharacterized LOC105378443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2655 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:98382174-98382395 Neighboring gene RNA, 5S ribosomal pseudogene 324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3829 Neighboring gene ribosomal protein S2 pseudogene 36 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98460100-98460600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3840 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:98493035-98493740 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:98494688-98495484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3842 Neighboring gene RNA, U6 small nuclear 1274, pseudogene Neighboring gene ribosomal protein L13a pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance. Edwards JA, et al. Am J Med, 1976 Jan. PMID 1251844
    2. Identification of B cell adaptor for PI3-kinase (BCAP) as an Abl interactor 1-regulated substrate of Abl kinases. Maruoka M, et al. FEBS Lett, 2005 Jun 6. PMID 15893754
    3. Overexpression of long non-coding RNA WT1-AS or silencing of PIK3AP1 are inhibitory to cervical cancer progression. Tong W, et al. Cell Cycle, 2021 Dec. PMID 34839795, Free PMC Article
    4. PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome. Lovšin E, et al. Front Immunol, 2020. PMID 32793186, Free PMC Article
    5. B cell adaptor for PI3-kinase (BCAP) modulates CD8(+) effector and memory T cell differentiation. Singh MD, et al. J Exp Med, 2018 Sep 3. PMID 30093532, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of long non-coding RNA WT1-AS or silencing of PIK3AP1 are inhibitory to cervical cancer progression.
      Title: Overexpression of long non-coding RNA WT1-AS or silencing of PIK3AP1 are inhibitory to cervical cancer progression.
    2. MiR-1246 regulates the PI3K/AKT signaling pathway by targeting PIK3AP1 and inhibits thyroid cancer cell proliferation and tumor growth.
      Title: MiR-1246 regulates the PI3K/AKT signaling pathway by targeting PIK3AP1 and inhibits thyroid cancer cell proliferation and tumor growth.
    3. PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome.
      Title: PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome.
    4. induction of BCAP serves as a positive feedback circuit to enhance PI3K signaling in activated CD8(+) T cells, thereby acting as a molecular checkpoint regulating effector and memory T cell development.
      Title: B cell adaptor for PI3-kinase (BCAP) modulates CD8(+) effector and memory T cell differentiation.
    5. Dimeric BCAP associates with the TIR domains of TLR2/4 and MAL/TIRAP, suggesting that it is recruited to the TLR signalosome by multitypic TIR-TIR interactions.
      Title: Structure of the Toll/Interleukin-1 Receptor (TIR) Domain of the B-cell Adaptor That Links Phosphoinositide Metabolism with the Negative Regulation of the Toll-like Receptor (TLR) Signalosome.
    6. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Pooled analysis of phosphatidylinositol 3-kinase pathway variants and risk of prostate cancer.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    8. Abi-1 promotes Abl-mediated BCAP phosphorylation and suggest that Abi-1 in general coordinates kinase-substrate interactions
      Title: Identification of B cell adaptor for PI3-kinase (BCAP) as an Abl interactor 1-regulated substrate of Abl kinases.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol 3-kinase regulatory subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol 3-kinase regulatory subunit binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in toll-like receptor 2 signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in toll-like receptor 4 signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in toll-like receptor 7 signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in toll-like receptor 9 signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    phosphoinositide 3-kinase adapter protein 1
    Names
    B cell adaptor protein
    B-cell adapter for phosphoinositide 3-kinase
    B-cell phosphoinositide 3-kinase adapter protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_152309.3 → NP_689522.2  phosphoinositide 3-kinase adapter protein 1

      See identical proteins and their annotated locations for NP_689522.2

      Status: VALIDATED

      Source sequence(s)
      AI826732, AK092883, AK122584, AK125635, BX648550
      Consensus CDS
      CCDS31259.1
      UniProtKB/Swiss-Prot
      Q5TB56, Q5VXJ9, Q6ZUJ8, Q8N6J6, Q8NAC8
      Related
      ENSP00000339826.5, ENST00000339364.10
      Conserved Domains (1) summary
      pfam14545
      Location:180 → 318
      DBB; Dof, BCAP, and BANK (DBB) motif,

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      96593315..96720514 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539248.2 → XP_011537550.1  phosphoinositide 3-kinase adapter protein 1 isoform X1

      Conserved Domains (1) summary
      pfam14545
      Location:180 → 318
      DBB; Dof, BCAP, and BANK (DBB) motif,

    2. XM_047424566.1 → XP_047280522.1  phosphoinositide 3-kinase adapter protein 1 isoform X2

    3. XM_005269499.2 → XP_005269556.1  phosphoinositide 3-kinase adapter protein 1 isoform X2

      See identical proteins and their annotated locations for XP_005269556.1

      UniProtKB/Swiss-Prot
      Q6ZUJ8
      Related
      ENSP00000360151.2, ENST00000371110.6
      Conserved Domains (1) summary
      pfam14545
      Location:2 → 140
      DBB; Dof, BCAP, and BANK (DBB) motif,

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      97474471..97601685 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364717.1 → XP_054220692.1  phosphoinositide 3-kinase adapter protein 1 isoform X1

    2. XM_054364719.1 → XP_054220694.1  phosphoinositide 3-kinase adapter protein 1 isoform X2

    3. XM_054364718.1 → XP_054220693.1  phosphoinositide 3-kinase adapter protein 1 isoform X2

    4. XM_054364721.1 → XP_054220696.1  phosphoinositide 3-kinase adapter protein 1 isoform X2

    5. XM_054364720.1 → XP_054220695.1  phosphoinositide 3-kinase adapter protein 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZUJ8.2 GenPept UniProtKB/Swiss-Prot:Q6ZUJ8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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