Human Gene PIK3R5 (ENST00000447110.6_10) from GENCODE V47lift37
  Description: phosphoinositide-3-kinase regulatory subunit 5, transcript variant 1 (from RefSeq NM_001142633.3)
Gencode Transcript: ENST00000447110.6_10
Gencode Gene: ENSG00000141506.15_17
Transcript (Including UTRs)
   Position: hg19 chr17:8,782,233-8,869,024 Size: 86,792 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr17:8,783,956-8,814,811 Size: 30,856 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:8,782,233-8,869,024)mRNA (may differ from genome)Protein (880 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
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-  Comments and Description Text from UniProtKB
  ID: PI3R5_HUMAN
DESCRIPTION: RecName: Full=Phosphoinositide 3-kinase regulatory subunit 5; Short=PI3-kinase regulatory subunit 5; AltName: Full=PI3-kinase p101 subunit; AltName: Full=Phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit; Short=PtdIns-3-kinase regulatory subunit; AltName: Full=Protein FOAP-2; AltName: Full=PtdIns-3-kinase p101; AltName: Full=p101-PI3K;
FUNCTION: Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity).
ENZYME REGULATION: Greatly activated by G gamma proteins (By similarity).
SUBUNIT: Heterodimer of a catalytic subunit (PIK3CG/p120) and a regulatory (PIK3R5a/p101) subunit. Interacts with beta-gamma G protein dimers.
SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity).
TISSUE SPECIFICITY: Ubiquitously expressed with high expression in fetal brain compared to adult brain. Abundant expression is observed in cerebellum, cerebral cortex, cerebral meninges, and vermis cerebelli.
DOMAIN: The heterodimerization region allows the binding to the catalytic subunit.
DISEASE: Note=Defects in PIK3R5 may be a cause of autosomal recessive ataxia with oculomotor apraxia (AOA). A PIK3R5 mutation segregates with the disease phenotype in a family affected by gait ataxia, cerebellar dysarthric speech, and impaired ocular movement. Additional features include reduced or absent tendon reflexes, severe cerebellar atrophy, marked vermal atrophy, moderately severe axonal sensory polyneuropathy with absent sensory nerve action potential in the lower extremities, and persistently elevated alpha-fetoprotein levels.

-  Primer design for this transcript
 

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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


-  MalaCards Disease Associations
  MalaCards Gene Search: PIK3R5
Diseases sorted by gene-association score: ataxia-oculomotor apraxia 3* (1329), spinocerebellar ataxia with axonal neuropathy type 2* (247), apraxia (15), spinocerebellar ataxia, autosomal recessive 1 (7), supraglottis cancer (6)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.41 RPKM in Whole Blood
Total median expression: 131.65 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 -64.50125-0.516 Picture PostScript Text
3' UTR -601.401723-0.349 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
IPR019522 - PI3K_1B_gamma_p101_su

Pfam Domains:
PF10486 - Phosphoinositide 3-kinase gamma adapter protein p101 subunit

ModBase Predicted Comparative 3D Structure on Q8WYR1
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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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity
GO:0046935 1-phosphatidylinositol-3-kinase regulator activity

Biological Process:
GO:0007186 G-protein coupled receptor signaling pathway
GO:0014065 phosphatidylinositol 3-kinase signaling
GO:0030168 platelet activation
GO:0043406 positive regulation of MAP kinase activity
GO:0043551 regulation of phosphatidylinositol 3-kinase activity
GO:0046854 phosphatidylinositol phosphorylation
GO:0051897 positive regulation of protein kinase B signaling

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005942 phosphatidylinositol 3-kinase complex
GO:0005944 phosphatidylinositol 3-kinase complex, class IB
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK129627 - Homo sapiens cDNA FLJ26116 fis, clone SPL07579.
BC028212 - Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5, mRNA (cDNA clone MGC:39947 IMAGE:5215094), complete cds.
AF128881 - Homo sapiens PI3 kinase regulatory subunit P101 mRNA, complete cds.
JD039625 - Sequence 20649 from Patent EP1572962.
JD097138 - Sequence 78162 from Patent EP1572962.
JD053789 - Sequence 34813 from Patent EP1572962.
JD418474 - Sequence 399498 from Patent EP1572962.
JD322198 - Sequence 303222 from Patent EP1572962.
JD087401 - Sequence 68425 from Patent EP1572962.
JD391865 - Sequence 372889 from Patent EP1572962.
JD177923 - Sequence 158947 from Patent EP1572962.
JD485436 - Sequence 466460 from Patent EP1572962.
JD308985 - Sequence 290009 from Patent EP1572962.
JD167011 - Sequence 148035 from Patent EP1572962.
JD490263 - Sequence 471287 from Patent EP1572962.
JD088171 - Sequence 69195 from Patent EP1572962.
JD281817 - Sequence 262841 from Patent EP1572962.
JD470153 - Sequence 451177 from Patent EP1572962.
JD115902 - Sequence 96926 from Patent EP1572962.
JD189413 - Sequence 170437 from Patent EP1572962.
JD437946 - Sequence 418970 from Patent EP1572962.
JD135124 - Sequence 116148 from Patent EP1572962.
AB028925 - Homo sapiens mRNA for FOAP-2, complete cds.
AK314186 - Homo sapiens cDNA, FLJ94909.
KJ905435 - Synthetic construct Homo sapiens clone ccsbBroadEn_15014 PIK3R5 gene, encodes complete protein.
CU688432 - Synthetic construct Homo sapiens gateway clone IMAGE:100019663 5' read PIK3R5 mRNA.
AY725853 - Homo sapiens phosphoinositide-3-kinase regulatory subunit polypeptide p101 transcript variant 4 (PIK3R5) mRNA, partial cds, alternatively spliced.
AY725851 - Homo sapiens phosphoinositide-3-kinase regulatory subunit polypeptide p101 transcript variant 2 (PIK3R5) mRNA, partial cds, alternatively spliced.
AY725852 - Homo sapiens phosphoinositide-3-kinase regulatory subunit polypeptide p101 transcript variant 3 (PIK3R5) mRNA, partial cds, alternatively spliced.
AY725854 - Homo sapiens phosphoinositide-3-kinase regulatory subunit polypeptide p101 transcript variant 1 (PIK3R5) mRNA, partial cds, alternatively spliced.
AK309074 - Homo sapiens cDNA, FLJ99115.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6352 - 3-phosphoinositide biosynthesis
PWY-6371 - superpathway of inositol phosphate compounds

Reactome (by CSHL, EBI, and GO)

Protein Q8WYR1 (Reactome details) participates in the following event(s):

R-HSA-392295 Gbeta:gamma recruits PI3K gamma
R-HSA-1676109 PI4P is phosphorylated to PI(3,4)P2 by PI3K3C[2] at the plasma membrane
R-HSA-1676048 PI(4,5)P2 is phosphorylated to PI(3,4,5)P3 by PIK3C[1] at the plasma membrane
R-HSA-392300 G beta:gamma activated PI3Kgamma converts PIP2 to PIP3
R-HSA-437162 PI3K alpha, beta, gamma convert PIP2 to PIP3
R-HSA-392451 G beta:gamma signalling through PI3Kgamma
R-HSA-114604 GPVI-mediated activation cascade
R-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-397795 G-protein beta:gamma signalling
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-1483255 PI Metabolism
R-HSA-388396 GPCR downstream signalling
R-HSA-109582 Hemostasis
R-HSA-1483257 Phospholipid metabolism
R-HSA-372790 Signaling by GPCR
R-HSA-556833 Metabolism of lipids
R-HSA-162582 Signal Transduction
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B0LPH4, D3DTS3, ENST00000447110.1, ENST00000447110.2, ENST00000447110.3, ENST00000447110.4, ENST00000447110.5, NM_001142633, PI3R5_HUMAN, Q5G936, Q5G938, Q5G939, Q8IZ23, Q8WYR1, Q9Y2Y2, uc320otb.1, uc320otb.2
UCSC ID: ENST00000447110.6_10
RefSeq Accession: NM_001142633.3
Protein: Q8WYR1 (aka PI3R5_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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