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

Gene ID: 118788, updated on 5-Mar-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 regulation of inflammatory response; regulation of signal transduction; and toll-like receptor signaling pathway. Predicted to be located in cytoplasm and membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (96593315..96720514, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (97474471..97601685, complement)
105.20220307 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
  • 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. 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
  3. 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
  4. 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
  5. MiR-1246 regulates the PI3K/AKT signaling pathway by targeting PIK3AP1 and inhibits thyroid cancer cell proliferation and tumor growth. Li J, et al. Mol Cell Biochem, 2022 Mar. PMID 34870753, Free PMC Article

See all (38) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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_2023_10

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

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