Human Gene PIK3AP1 (ENST00000339364.10) from GENCODE V44
  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 CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:96,593,315-96,720,514)mRNA (may differ from genome)Protein (805 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BCAP_HUMAN
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.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  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
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-  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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  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, ENST00000339364.1, ENST00000339364.2, ENST00000339364.3, ENST00000339364.4, ENST00000339364.5, ENST00000339364.6, ENST00000339364.7, ENST00000339364.8, ENST00000339364.9, NM_152309, Q5TB56, Q5VXJ9, Q6ZUJ8, Q8N6J6, Q8NAC8, uc001kmq.1, uc001kmq.2, uc001kmq.3, uc001kmq.4, uc001kmq.5
UCSC ID: ENST00000339364.10
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.