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Aliases for PIK3AP1 Gene

Aliases for PIK3AP1 Gene

  • Phosphoinositide-3-Kinase Adaptor Protein 1 2 3 5
  • B-Cell Phosphoinositide 3-Kinase Adapter Protein 1 3 4
  • B-Cell Adapter For Phosphoinositide 3-Kinase 3 4
  • BCAP 3 4
  • Phosphoinositide 3-Kinase Adapter Protein 1 3
  • B Cell Adaptor Protein 3

External Ids for PIK3AP1 Gene

Previous GeneCards Identifiers for PIK3AP1 Gene

  • GC10M098484
  • GC10M098018
  • GC10M098017
  • GC10M098343
  • GC10M091982

Summaries for PIK3AP1 Gene

GeneCards Summary for PIK3AP1 Gene

PIK3AP1 (Phosphoinositide-3-Kinase Adaptor Protein 1) is a Protein Coding gene. Diseases associated with PIK3AP1 include Hemangioma Of Lung. Among its related pathways are RET signaling and Innate Immune System. Gene Ontology (GO) annotations related to this gene include identical protein binding and phosphatidylinositol 3-kinase regulatory subunit binding. An important paralog of this gene is BANK1.

UniProtKB/Swiss-Prot for PIK3AP1 Gene

  • Signaling adapter that contributes to B-cell development by linking B-cell receptor (BCR) signaling to the phosphoinositide 3-kinase (PI3K)-Akt signaling pathway. Has a complementary role to the BCR coreceptor CD19, coupling BCR and PI3K activation by providing a docking site for the PI3K subunit PIK3R1. Alternatively, links Toll-like receptor (TLR) signaling to PI3K activation, a process preventing excessive inflammatory cytokine production. Also involved in the activation of PI3K in natural killer cells. May be involved in the survival of mature B-cells via activation of REL.

Gene Wiki entry for PIK3AP1 Gene

Additional gene information for PIK3AP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3AP1 Gene

Genomics for PIK3AP1 Gene

GeneHancer (GH) Regulatory Elements for PIK3AP1 Gene

Promoters and enhancers for PIK3AP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I096716 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 587.6 +1.5 1467 5.4 HDGF PKNOX1 FOXA2 SMAD1 ARID4B ZNF2 IRF4 YY1 GLIS2 ZNF143 PIK3AP1 LCOR TM9SF3 GC10M096631
GH10I096722 Enhancer 0.3 dbSUPER 562.3 -2.0 -1968 0.8 SAP130 PIK3AP1 GC10P096746
GH10I096670 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 37.2 +46.4 46375 8.1 HDGF PKNOX1 CLOCK FOXA2 MLX ARID4B IRF4 YY1 ZNF207 MCM3 PIK3AP1 NPM1P26 TCTN3 TM9SF3 RPL13AP5 CCNJ EXOSC1 LCOR GC10M096631
GH10I096644 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 35.3 +73.5 73546 4.5 MAX EBF1 BATF IRF4 RAD21 YY1 RELA ZNF664 HNF4G IKZF2 PIK3AP1 LCOR MIR607 TM9SF3 GC10M096631
GH10I096694 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 32.5 +23.7 23737 4.5 PKNOX1 CEBPG BATF CTBP1 ZNF207 BCLAF1 RUNX3 ZNF687 HLF JUNB PIK3AP1 LCOR TM9SF3 GC10M096631
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PIK3AP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIK3AP1 gene promoter:

Genomic Locations for PIK3AP1 Gene

Genomic Locations for PIK3AP1 Gene
chr10:96,593,312-96,720,522
(GRCh38/hg38)
Size:
127,211 bases
Orientation:
Minus strand
chr10:98,353,069-98,480,279
(GRCh37/hg19)

Genomic View for PIK3AP1 Gene

Genes around PIK3AP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIK3AP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIK3AP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3AP1 Gene

Proteins for PIK3AP1 Gene

  • Protein details for PIK3AP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZUJ8-BCAP_HUMAN
    Recommended name:
    Phosphoinositide 3-kinase adapter protein 1
    Protein Accession:
    Q6ZUJ8
    Secondary Accessions:
    • Q5TB56
    • Q5VXJ9
    • Q8N6J6
    • Q8NAC8

    Protein attributes for PIK3AP1 Gene

    Size:
    805 amino acids
    Molecular mass:
    90398 Da
    Quaternary structure:
    • Homooligomer (By similarity). Interacts (phosphorylated on tyrosine residues within YXXM motifs) with PIK3R1 (via SH2 domain); required for BCR- and TLR-mediated activation of phosphoinositide 3-kinase. Interacts (via polyproline C-terminal region) with ABI1 (via SH3 domain); the interaction promotes phosphorylation of PIK3AP1 by ABL1. May interact with MYD88 and TIRAP (By similarity).

    Three dimensional structures from OCA and Proteopedia for PIK3AP1 Gene

    Alternative splice isoforms for PIK3AP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIK3AP1 Gene

Post-translational modifications for PIK3AP1 Gene

  • Constitutively phosphorylated. Phosphorylated on tyrosine residues in C-terminal region by ABL1. Phosphorylated on tyrosine residues within the YXXM motifs by BTK and SYK (By similarity). Isoform 1 and isoform 2 are phosphorylated on tyrosine residues, most likely within the YXXM motifs, via CD19 activation (By similarity). Toll-like receptor activation induces appearance of a phosphorylated form associated with membranes (By similarity).
  • Ubiquitination at isoforms=2, 3487 and Lys630

Other Protein References for PIK3AP1 Gene

No data available for DME Specific Peptides for PIK3AP1 Gene

Domains & Families for PIK3AP1 Gene

Gene Families for PIK3AP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for PIK3AP1 Gene

Suggested Antigen Peptide Sequences for PIK3AP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZUJ8

UniProtKB/Swiss-Prot:

BCAP_HUMAN :
  • The DBB domain is required for dimerization.
Domain:
  • The DBB domain is required for dimerization.
genes like me logo Genes that share domains with PIK3AP1: view

Function for PIK3AP1 Gene

Molecular function for PIK3AP1 Gene

UniProtKB/Swiss-Prot Function:
Signaling adapter that contributes to B-cell development by linking B-cell receptor (BCR) signaling to the phosphoinositide 3-kinase (PI3K)-Akt signaling pathway. Has a complementary role to the BCR coreceptor CD19, coupling BCR and PI3K activation by providing a docking site for the PI3K subunit PIK3R1. Alternatively, links Toll-like receptor (TLR) signaling to PI3K activation, a process preventing excessive inflammatory cytokine production. Also involved in the activation of PI3K in natural killer cells. May be involved in the survival of mature B-cells via activation of REL.

Phenotypes From GWAS Catalog for PIK3AP1 Gene

Gene Ontology (GO) - Molecular Function for PIK3AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036312 phosphatidylinositol 3-kinase regulatory subunit binding ISS --
GO:0042802 identical protein binding IEA --
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS --
genes like me logo Genes that share ontologies with PIK3AP1: view
genes like me logo Genes that share phenotypes with PIK3AP1: view

Animal Models for PIK3AP1 Gene

MGI Knock Outs for PIK3AP1:

Animal Model Products

miRNA for PIK3AP1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIK3AP1 Gene

Localization for PIK3AP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIK3AP1 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIK3AP1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIK3AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane ISS --
genes like me logo Genes that share ontologies with PIK3AP1: view

Pathways & Interactions for PIK3AP1 Gene

genes like me logo Genes that share pathways with PIK3AP1: view

SIGNOR curated interactions for PIK3AP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for PIK3AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling ISS --
GO:0034134 toll-like receptor 2 signaling pathway ISS --
GO:0034142 toll-like receptor 4 signaling pathway ISS --
GO:0034154 toll-like receptor 7 signaling pathway ISS --
GO:0034162 toll-like receptor 9 signaling pathway ISS --
genes like me logo Genes that share ontologies with PIK3AP1: view

Drugs & Compounds for PIK3AP1 Gene

No Compound Related Data Available

Transcripts for PIK3AP1 Gene

Unigene Clusters for PIK3AP1 Gene

Phosphoinositide-3-kinase adaptor protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIK3AP1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18a ·
SP1: - - - - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: -
SP5:
SP6: -
SP7: - - -
SP8: - -
SP9: - - - - -
SP10:
SP11:

ExUns: 18b · 18c ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for PIK3AP1 Gene

GeneLoc Exon Structure for
PIK3AP1
ECgene alternative splicing isoforms for
PIK3AP1

Expression for PIK3AP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PIK3AP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PIK3AP1 Gene

This gene is overexpressed in Whole Blood (x14.3), Liver (x8.5), and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for PIK3AP1 Gene

This gene is overexpressed in Salivary gland (12.4), Peripheral blood mononuclear cells (11.8), Blymphocyte (11.2), Monocytes (8.3), and Islet of Langerhans (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PIK3AP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PIK3AP1 Gene:

PIK3AP1

SOURCE GeneReport for Unigene cluster for PIK3AP1 Gene:

Hs.310456

mRNA Expression by UniProt/SwissProt for PIK3AP1 Gene:

Q6ZUJ8-BCAP_HUMAN
Tissue specificity: Expressed in natural killer (NK) cells.

Evidence on tissue expression from TISSUES for PIK3AP1 Gene

  • Spleen(4.4)
  • Nervous system(4.4)
  • Liver(4.3)
  • Intestine(2.6)
genes like me logo Genes that share expression patterns with PIK3AP1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIK3AP1 Gene

Orthologs for PIK3AP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PIK3AP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIK3AP1 33 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia PIK3AP1 33 34
  • 89.36 (n)
cow
(Bos Taurus)
Mammalia PIK3AP1 33 34
  • 88.96 (n)
mouse
(Mus musculus)
Mammalia Pik3ap1 33 16 34
  • 83.37 (n)
rat
(Rattus norvegicus)
Mammalia Pik3ap1 33
  • 83.25 (n)
oppossum
(Monodelphis domestica)
Mammalia PIK3AP1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIK3AP1 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIK3AP1 33 34
  • 69.51 (n)
lizard
(Anolis carolinensis)
Reptilia PIK3AP1 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pik3ap1 33
  • 58.32 (n)
zebrafish
(Danio rerio)
Actinopterygii pik3ap1 33 34
  • 52.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta stumps 34
  • 10 (a)
OneToMany
Species where no ortholog for PIK3AP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PIK3AP1 Gene

ENSEMBL:
Gene Tree for PIK3AP1 (if available)
TreeFam:
Gene Tree for PIK3AP1 (if available)

Paralogs for PIK3AP1 Gene

Paralogs for PIK3AP1 Gene

(1) SIMAP similar genes for PIK3AP1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PIK3AP1: view

Variants for PIK3AP1 Gene

Sequence variations from dbSNP and Humsavar for PIK3AP1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs111902593 benign, Infantile spasms 96,604,056(-) G/A intron_variant
rs117500254 benign, Infantile spasms 96,656,894(-) G/A 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs138990701 benign, Infantile spasms 96,651,375(-) A/G coding_sequence_variant, synonymous_variant
rs141067860 benign, Infantile spasms 96,609,806(-) T/A/C coding_sequence_variant, intron_variant, synonymous_variant
rs141221035 benign, Infantile spasms 96,651,597(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PIK3AP1 Gene

Variant ID Type Subtype PubMed ID
esv2665189 CNV deletion 23128226
esv2678227 CNV deletion 23128226
esv3333231 CNV duplication 20981092
esv3364401 CNV insertion 20981092
esv3577616 CNV gain 25503493
esv3577627 CNV gain 25503493
esv3577638 CNV gain 25503493
esv3624300 CNV loss 21293372
esv3624301 CNV loss 21293372
esv3624302 CNV loss 21293372
esv3624304 CNV loss 21293372
nsv1110852 OTHER inversion 24896259
nsv25166 CNV deletion 16902084
nsv508601 CNV deletion 20534489
nsv509363 CNV insertion 20534489
nsv7502 CNV deletion 18451855
nsv7503 CNV insertion 18451855

Variation tolerance for PIK3AP1 Gene

Residual Variation Intolerance Score: 61.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.56; 94.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIK3AP1 Gene

Human Gene Mutation Database (HGMD)
PIK3AP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIK3AP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3AP1 Gene

Disorders for PIK3AP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PIK3AP1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
hemangioma of lung
  • pulmonary hemangioma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PIK3AP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PIK3AP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PIK3AP1 Gene

Publications for PIK3AP1 Gene

  1. Identification of B cell adaptor for PI3-kinase (BCAP) as an Abl interactor 1-regulated substrate of Abl kinases. (PMID: 15893754) Maruoka M … Shishido T (FEBS letters 2005) 3 4 22 58
  2. Pooled analysis of phosphatidylinositol 3-kinase pathway variants and risk of prostate cancer. (PMID: 20197460) Koutros S … Berndt SI (Cancer research 2010) 3 44 58
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. BCAP: the tyrosine kinase substrate that connects B cell receptor to phosphoinositide 3-kinase activation. (PMID: 11163197) Okada T … Kurosaki T (Immunity 2000) 2 3 58

Products for PIK3AP1 Gene

Sources for PIK3AP1 Gene

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