Human Gene PIK3AP1 (ENST00000339364.10) Description and Page Index
  Description: Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA. (from RefSeq NM_152309)
Gencode Transcript: ENST00000339364.10
Gencode Gene: ENSG00000155629.15
Transcript (Including UTRs)
   Position: hg38 chr10:96,593,315-96,720,514 Size: 127,200 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg38 chr10:96,595,577-96,720,394 Size: 124,818 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr10:96,593,315-96,720,514)mRNA (may differ from genome)Protein (805 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Phosphoinositide 3-kinase adapter protein 1; AltName: Full=B-cell adapter for phosphoinositide 3-kinase; AltName: Full=B-cell phosphoinositide 3-kinase adapter protein 1;
FUNCTION: Involved in the activation of phosphoinositide 3-kinase (PI3K) in B-cells and in natural killer (NK) cells. Couples B-cell antigen receptor (BCR) to PI3K activation by providing a docking site for the PI3K subunit PIK3R1, which contributes to B-cell development. Seems to have a complementary role with CD19 in PI3K activation (By similarity). May be involved in the survival of mature B-cells via activation of REL (By similarity).
SUBUNIT: Self-associates (By similarity). Interacts (phosphorylated on tyrosine residues within YXXM motifs) with PIK3R1 (via SH2 domain). Interacts (via polyproline C-terminal region) with ABI1 (via SH3 domain); the interaction promotes phosphorylation of PIK3AP1 by ABL1.
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cell membrane (By similarity).
TISSUE SPECIFICITY: Expressed in natural killer (NK) cells.
DOMAIN: The DBB domain is required for dimerization (By similarity).
PTM: 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). Phosphorylated on tyrosine residues in C-terminus region by ABL1 and V-abl.
SIMILARITY: Contains 1 DBB domain.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.17 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 155.11 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.70120-0.481 Picture PostScript Text
3' UTR -566.602262-0.250 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020683 - Ankyrin_rpt-contain_dom
IPR017893 - DBB_domain

ModBase Predicted Comparative 3D Structure on Q6ZUJ8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0036312 phosphatidylinositol 3-kinase regulatory subunit binding
GO:0042802 identical protein binding
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity

Biological Process:
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0034134 toll-like receptor 2 signaling pathway
GO:0034142 toll-like receptor 4 signaling pathway
GO:0034154 toll-like receptor 7 signaling pathway
GO:0034162 toll-like receptor 9 signaling pathway
GO:0046854 phosphatidylinositol phosphorylation
GO:0050727 regulation of inflammatory response
GO:0051897 positive regulation of protein kinase B signaling

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane

-  Descriptions from all associated GenBank mRNAs
  AK122584 - Homo sapiens mRNA for FLJ00308 protein.
BX648550 - Homo sapiens mRNA; cDNA DKFZp779E2431 (from clone DKFZp779E2431).
AK092883 - Homo sapiens cDNA FLJ35564 fis, clone SPLEN2005416.
AX747788 - Sequence 1313 from Patent EP1308459.
AK125635 - Homo sapiens cDNA FLJ43647 fis, clone SYNOV4000706, moderately similar to Mus musculus phosphoinositide-3-kinase adaptor protein 1 (Pik3ap1).
BC029917 - Homo sapiens phosphoinositide-3-kinase adaptor protein 1, mRNA (cDNA clone MGC:35132 IMAGE:5168493), complete cds.
KJ903676 - Synthetic construct Homo sapiens clone ccsbBroadEn_13070 PIK3AP1 gene, encodes complete protein.
AM393069 - Synthetic construct Homo sapiens clone IMAGE:100002318 for hypothetical protein (PIK3AP1 gene).
JD022667 - Sequence 3691 from Patent EP1572962.
JD030543 - Sequence 11567 from Patent EP1572962.
JD019340 - Sequence 364 from Patent EP1572962.
JD032850 - Sequence 13874 from Patent EP1572962.
JD545745 - Sequence 526769 from Patent EP1572962.
JD527246 - Sequence 508270 from Patent EP1572962.
JD299712 - Sequence 280736 from Patent EP1572962.
JD521849 - Sequence 502873 from Patent EP1572962.
JD278947 - Sequence 259971 from Patent EP1572962.
JD202716 - Sequence 183740 from Patent EP1572962.
JD305324 - Sequence 286348 from Patent EP1572962.
JD094281 - Sequence 75305 from Patent EP1572962.
JD523978 - Sequence 505002 from Patent EP1572962.
JD066330 - Sequence 47354 from Patent EP1572962.
JD040708 - Sequence 21732 from Patent EP1572962.
JD237594 - Sequence 218618 from Patent EP1572962.
JD091572 - Sequence 72596 from Patent EP1572962.
JD080634 - Sequence 61658 from Patent EP1572962.
JD048788 - Sequence 29812 from Patent EP1572962.
JD115714 - Sequence 96738 from Patent EP1572962.
CU688788 - Synthetic construct Homo sapiens gateway clone IMAGE:100019254 5' read PIK3AP1 mRNA.
JD137827 - Sequence 118851 from Patent EP1572962.
JD421164 - Sequence 402188 from Patent EP1572962.
JD263799 - Sequence 244823 from Patent EP1572962.
JD324573 - Sequence 305597 from Patent EP1572962.
JD227948 - Sequence 208972 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04662 - B cell receptor signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q6ZUJ8 (Reactome details) participates in the following event(s):

R-HSA-2045911 BCAP Signalosome phosphorylates PI(4,5)P2 forming PI(3,4,5)P3
R-HSA-2400009 PI3K inhibitors block PI3K catalytic activity
R-HSA-2316434 PI3K phosphorylates PIP2 to PIP3
R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
R-HSA-983705 Signaling by the B Cell Receptor (BCR)
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-2219528 PI3K/AKT Signaling in Cancer
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-199418 Negative regulation of the PI3K/AKT network
R-HSA-5663202 Diseases of signal transduction
R-HSA-162582 Signal Transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: BCAP, BCAP_HUMAN, NM_152309, Q5TB56, Q5VXJ9, Q6ZUJ8, Q8N6J6, Q8NAC8, uc001kmq.1, uc001kmq.2, uc001kmq.3, uc001kmq.4, uc001kmq.5
UCSC ID: uc001kmq.5
RefSeq Accession: NM_152309
Protein: Q6ZUJ8 (aka BCAP_HUMAN)
CCDS: CCDS31259.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.