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Q8WYR1 (PI3R5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Phosphoinositide 3-kinase regulatory subunit 5

Short name=PI3-kinase regulatory subunit 5
Alternative name(s):
PI3-kinase p101 subunit
Phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit
Short name=PtdIns-3-kinase regulatory subunit
Protein FOAP-2
PtdIns-3-kinase p101
p101-PI3K
Gene names
Name:PIK3R5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length880 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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 structure

Heterodimer of a catalytic subunit (PIK3CG/p120) and a regulatory (PIK3R5a/p101) subunit. Interacts with beta-gamma G protein dimers. Ref.7

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. Ref.7 Ref.9

Domain

The heterodimerization region allows the binding to the catalytic subunit.

Involvement in disease

Ataxia-oculomotor apraxia 3 (AOA3) [MIM:615217]: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Ontologies

Keywords
   Cellular componentCytoplasm
Membrane
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Neurodegeneration
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processG-protein coupled receptor signaling pathway

Inferred from sequence or structural similarity. Source: UniProtKB

blood coagulation

Traceable author statement. Source: Reactome

cell death

Inferred from electronic annotation. Source: UniProtKB-KW

phosphatidylinositol 3-kinase signaling

Inferred from sequence or structural similarity. Source: UniProtKB

phosphatidylinositol biosynthetic process

Traceable author statement. Source: Reactome

phospholipid metabolic process

Traceable author statement. Source: Reactome

platelet activation

Traceable author statement. Source: Reactome

positive regulation of MAP kinase activity

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of protein kinase B signaling

Inferred from sequence or structural similarity. Source: UniProtKB

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_component1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex

Inferred from sequence or structural similarity. Source: UniProtKB

cytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

cytosol

Traceable author statement. Source: Reactome

membrane

Inferred from sequence or structural similarity. Source: UniProtKB

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_function1-phosphatidylinositol-3-kinase regulator activity

Inferred from electronic annotation. Source: Ensembl

G-protein beta/gamma-subunit complex binding

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8WYR1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8WYR1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-386: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 880880Phosphoinositide 3-kinase regulatory subunit 5
PRO_0000058421

Regions

Region25 – 10177Heterodimerization By similarity
Region653 – 753101Interaction with beta-gamma G protein dimers By similarity

Amino acid modifications

Modified residue11N-acetylmethionine By similarity
Modified residue4581Phosphoserine Ref.8
Modified residue5071Phosphoserine Ref.8

Natural variations

Alternative sequence1 – 386386Missing in isoform 2.
VSP_016388
Natural variant281R → C in a colorectal cancer sample; somatic mutation. Ref.10
VAR_036227
Natural variant6291P → S in AOA3. Ref.9
Corresponds to variant rs61761068 [ dbSNP | Ensembl ].
VAR_067052

Experimental info

Sequence conflict151H → L in AAW63122. Ref.6
Sequence conflict291R → C in AAW63122. Ref.6
Sequence conflict471L → Q in AAW63122. Ref.6
Sequence conflict951F → L in AAW63122. Ref.6
Sequence conflict1711V → E in AAW63122. Ref.6
Sequence conflict220 – 29778AKTLA…WSQDS → TLQNQGSSIPSPSLSPGATP TAGARTALTSCRKSCSRNRS CSSQGSWEMMKRRKRRRRRW RRTWKLMGTVPREIPCSP in AAW63122. Ref.6
Sequence conflict299 – 36870DILQE…SQASG → GNIEGDPGPRRPDSAGLASL QTSCRKSCSRNRSYSSQGSW EMMKRRERRRRRWRRTWKLT GTVPREIPCS in AAW63121. Ref.6
Sequence conflict6741V → L in AAD33397. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2002. Version 1.
Checksum: 70E356773B148A8A

FASTA88097,348
        10         20         30         40         50         60 
MQPGATTCTE DRIQHALERC LHGLSLSRRS TSWSAGLCLN CWSLQELVSR DPGHFLILLE 

        70         80         90        100        110        120 
QILQKTREVQ EKGTYDLLTP LALLFYSTVL CTPHFPPDSD LLLKAASTYH RFLTWPVPYC 

       130        140        150        160        170        180 
SICQELLTFI DAELKAPGIS YQRLVRAEQG LPIRSHRSST VTVLLLNPVE VQAEFLAVAN 

       190        200        210        220        230        240 
KLSTPGHSPH SAYTTLLLHA FQATFGAHCD VPGLHCRLQA KTLAELEDIF TETAEAQELA 

       250        260        270        280        290        300 
SGIGDAAEAR RWLRTKLQAV GEKAGFPGVL DTAKPGKLHT IPIPVARCYT YSWSQDSFDI 

       310        320        330        340        350        360 
LQEILLKEQE LLQPGILGDD EEEEEEEEEV EEDLETDGHC AERDSLLSTS SLASHDSTLS 

       370        380        390        400        410        420 
LASSQASGPA LSRHLLTSFV SGLSDGMDSG YVEDSEESSS EWPWRRGSQE RRGHRRPGQK 

       430        440        450        460        470        480 
FIRIYKLFKS TSQLVLRRDS RSLEGSSDTA LPLRRAGSLC SPLDEPVSPP SRAQRSRSLP 

       490        500        510        520        530        540 
QPKLGTQLPS WLLAPASRPQ RRRPFLSGDE DPKASTLRVV VFGSDRISGK VARAYSNLRR 

       550        560        570        580        590        600 
LENNRPLLTR FFKLQFFYVP VKRSHGTSPG ACPPPRSQTP SPPTDSPRHA SPGELGTTPW 

       610        620        630        640        650        660 
EESTNDISHY LGMLDPWYER NVLGLMHLPP EVLCQQSLKA EAQALEGSPT QLPILADMLL 

       670        680        690        700        710        720 
YYCRFAARPV LLQVYQTELT FITGEKTTEI FIHSLELGHS AATRAIKASG PGSKRLGIDG 

       730        740        750        760        770        780 
DREAVPLTLQ IIYSKGAISG RSRWSNLEKV CTSVNLNKAC RKQEELDSSM EALTLNLTEV 

       790        800        810        820        830        840 
VKRQNSKSKK GFNQISTSQI KVDKVQIIGS NSCPFAVCLD QDERKILQSV VRCEVSPCYK 

       850        860        870        880 
PEKSDLSSPP QTPPDLPAQA APDLCSLLCL PIMTFSGALP 

« Hide

Isoform 2 [UniParc].

Checksum: C8962DD01304C8C3
Show »

FASTA49454,878

References

« Hide 'large scale' references
[1]"Molecular cloning of a human novel gene, FOAP-2, which are highly expressed in macrophages."
Yazaki M., Fujii Y., Tsuritani K., Yajima Y., Amemiya T., Ukai Y., Naito K., Kawaguchi A., Takayama K.
Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"G-beta gamma regulated phosphatidylinositol 3-kinase."
Stephens L., Hawkins P.T., Braselmann S.
Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]SeattleSNPs variation discovery resource
Submitted (DEC-2007) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Blood.
[6]"Identification of alternative transcripts of human P101-PI3K."
Reichwald K., Gausmann U., Karagyozov L., Platzer M.
Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-369 (ISOFORM 1).
Tissue: Peripheral blood leukocyte and Spleen.
[7]"p84, a new Gbetagamma-activated regulatory subunit of the type IB phosphoinositide 3-kinase p110gamma."
Suire S., Coadwell J., Ferguson G.J., Davidson K., Hawkins P., Stephens L.
Curr. Biol. 15:566-570(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PIK3CG, TISSUE SPECIFICITY.
[8]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-458 AND SER-507, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia."
Tassan N.A., Khalil D., Shinwari J., Sharif L.A., Bavi P., Abduljaleel Z., Abu Dhaim N., Magrashi A., Bobis S., Ahmed H., Alahmed S., Bohlega S.
Hum. Mutat. 33:351-354(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, VARIANT AOA3 SER-629.
[10]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-28.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB028925 mRNA. Translation: BAB82464.1.
AF128881 mRNA. Translation: AAD33397.1.
EU332864 Genomic DNA. Translation: ABY87553.1.
CH471108 Genomic DNA. Translation: EAW90035.1.
CH471108 Genomic DNA. Translation: EAW90036.1.
BC028212 mRNA. Translation: AAH28212.1.
AY725851 mRNA. Translation: AAW63121.1.
AY725852 mRNA. Translation: AAW63122.1.
AY725853 mRNA. Translation: AAW63123.1.
AY725854 mRNA. Translation: AAW63124.1.
CCDSCCDS11147.1. [Q8WYR1-1]
RefSeqNP_001136105.1. NM_001142633.2. [Q8WYR1-1]
NP_001238780.1. NM_001251851.1. [Q8WYR1-2]
NP_001238781.1. NM_001251852.1. [Q8WYR1-2]
NP_001238782.1. NM_001251853.1. [Q8WYR1-2]
NP_001238784.1. NM_001251855.1. [Q8WYR1-2]
NP_055123.2. NM_014308.3. [Q8WYR1-1]
XP_005256636.1. XM_005256579.2. [Q8WYR1-1]
UniGeneHs.278901.
Hs.738684.

3D structure databases

ProteinModelPortalQ8WYR1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117079. 5 interactions.
IntActQ8WYR1. 6 interactions.
STRING9606.ENSP00000269300.

Chemistry

BindingDBQ8WYR1.

PTM databases

PhosphoSiteQ8WYR1.

Polymorphism databases

DMDM74716480.

Proteomic databases

MaxQBQ8WYR1.
PaxDbQ8WYR1.
PRIDEQ8WYR1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000447110; ENSP00000392812; ENSG00000141506. [Q8WYR1-1]
ENST00000581552; ENSP00000462433; ENSG00000141506. [Q8WYR1-1]
GeneID23533.
KEGGhsa:23533.
UCSCuc002glt.3. human. [Q8WYR1-1]

Organism-specific databases

CTD23533.
GeneCardsGC17M008724.
H-InvDBHIX0027111.
HGNCHGNC:30035. PIK3R5.
HPAHPA052247.
MIM611317. gene.
615217. phenotype.
neXtProtNX_Q8WYR1.
Orphanet64753. Spinocerebellar ataxia with axonal neuropathy type 2.
PharmGKBPA134890823.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG27692.
HOVERGENHBG079651.
InParanoidQ8WYR1.
KOK02649.
OMATRAIKAS.
OrthoDBEOG7RV9FH.
PhylomeDBQ8WYR1.
TreeFamTF102035.

Enzyme and pathway databases

BioCycMetaCyc:HS13887-MONOMER.
ReactomeREACT_111102. Signal Transduction.
REACT_111217. Metabolism.
REACT_604. Hemostasis.

Gene expression databases

ArrayExpressQ8WYR1.
BgeeQ8WYR1.
CleanExHS_PIK3R5.
GenevestigatorQ8WYR1.

Family and domain databases

InterProIPR019522. PIK3R5/6.
[Graphical view]
PfamPF10486. PI3K_1B_p101. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPIK3R5. human.
GeneWikiPIK3R5.
GenomeRNAi23533.
NextBio46026.
PROQ8WYR1.
SOURCESearch...

Entry information

Entry namePI3R5_HUMAN
AccessionPrimary (citable) accession number: Q8WYR1
Secondary accession number(s): B0LPH4 expand/collapse secondary AC list , D3DTS3, Q5G936, Q5G938, Q5G939, Q8IZ23, Q9Y2Y2
Entry history
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: March 1, 2002
Last modified: July 9, 2014
This is version 89 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM