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Q8WYR1

- PI3R5_HUMAN

UniProt

Q8WYR1 - PI3R5_HUMAN

Protein

Phosphoinositide 3-kinase regulatory subunit 5

Gene

PIK3R5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 1 (01 Mar 2002)
      Previous versions | rss
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    Functioni

    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.By similarity

    Enzyme regulationi

    Greatly activated by G gamma proteins.By similarity

    GO - Molecular functioni

    1. 1-phosphatidylinositol-3-kinase regulator activity Source: Ensembl
    2. G-protein beta/gamma-subunit complex binding Source: UniProtKB

    GO - Biological processi

    1. blood coagulation Source: Reactome
    2. cell death Source: UniProtKB-KW
    3. G-protein coupled receptor signaling pathway Source: UniProtKB
    4. phosphatidylinositol 3-kinase signaling Source: UniProtKB
    5. phosphatidylinositol biosynthetic process Source: Reactome
    6. phospholipid metabolic process Source: Reactome
    7. platelet activation Source: Reactome
    8. positive regulation of MAP kinase activity Source: UniProtKB
    9. positive regulation of protein kinase B signaling Source: UniProtKB
    10. small molecule metabolic process Source: Reactome

    Enzyme and pathway databases

    BioCyciMetaCyc:HS13887-MONOMER.
    ReactomeiREACT_121025. Synthesis of PIPs at the plasma membrane.
    REACT_1695. GPVI-mediated activation cascade.
    REACT_19290. G beta:gamma signalling through PI3Kgamma.

    Names & Taxonomyi

    Protein namesi
    Recommended 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 namesi
    Name:PIK3R5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:30035. PIK3R5.

    Subcellular locationi

    Nucleus By similarity. Cytoplasm By similarity. Membrane By similarity; Peripheral membrane protein By similarity

    GO - Cellular componenti

    1. 1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex Source: UniProtKB
    2. cytoplasm Source: UniProtKB
    3. cytosol Source: Reactome
    4. membrane Source: UniProtKB
    5. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Membrane, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Ataxia-oculomotor apraxia 3 (AOA3) [MIM:615217]: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti629 – 6291P → S in AOA3. 1 Publication
    Corresponds to variant rs61761068 [ dbSNP | Ensembl ].
    VAR_067052

    Keywords - Diseasei

    Disease mutation, Neurodegeneration

    Organism-specific databases

    MIMi615217. phenotype.
    Orphaneti64753. Spinocerebellar ataxia with axonal neuropathy type 2.
    PharmGKBiPA134890823.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 880880Phosphoinositide 3-kinase regulatory subunit 5PRO_0000058421Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionineBy similarity
    Modified residuei458 – 4581Phosphoserine1 Publication
    Modified residuei507 – 5071Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ8WYR1.
    PaxDbiQ8WYR1.
    PRIDEiQ8WYR1.

    PTM databases

    PhosphoSiteiQ8WYR1.

    Expressioni

    Tissue specificityi

    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.2 Publications

    Gene expression databases

    ArrayExpressiQ8WYR1.
    BgeeiQ8WYR1.
    CleanExiHS_PIK3R5.
    GenevestigatoriQ8WYR1.

    Organism-specific databases

    HPAiHPA052247.

    Interactioni

    Subunit structurei

    Heterodimer of a catalytic subunit (PIK3CG/p120) and a regulatory (PIK3R5a/p101) subunit. Interacts with beta-gamma G protein dimers.1 Publication

    Protein-protein interaction databases

    BioGridi117079. 5 interactions.
    IntActiQ8WYR1. 7 interactions.
    STRINGi9606.ENSP00000269300.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WYR1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni25 – 10177HeterodimerizationBy similarityAdd
    BLAST
    Regioni653 – 753101Interaction with beta-gamma G protein dimersBy similarityAdd
    BLAST

    Domaini

    The heterodimerization region allows the binding to the catalytic subunit.

    Phylogenomic databases

    eggNOGiNOG27692.
    HOVERGENiHBG079651.
    InParanoidiQ8WYR1.
    KOiK02649.
    OMAiTRAIKAS.
    OrthoDBiEOG7RV9FH.
    PhylomeDBiQ8WYR1.
    TreeFamiTF102035.

    Family and domain databases

    InterProiIPR019522. PIK3R5/6.
    [Graphical view]
    PfamiPF10486. PI3K_1B_p101. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8WYR1-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MQPGATTCTE DRIQHALERC LHGLSLSRRS TSWSAGLCLN CWSLQELVSR    50
    DPGHFLILLE QILQKTREVQ EKGTYDLLTP LALLFYSTVL CTPHFPPDSD 100
    LLLKAASTYH RFLTWPVPYC SICQELLTFI DAELKAPGIS YQRLVRAEQG 150
    LPIRSHRSST VTVLLLNPVE VQAEFLAVAN KLSTPGHSPH SAYTTLLLHA 200
    FQATFGAHCD VPGLHCRLQA KTLAELEDIF TETAEAQELA SGIGDAAEAR 250
    RWLRTKLQAV GEKAGFPGVL DTAKPGKLHT IPIPVARCYT YSWSQDSFDI 300
    LQEILLKEQE LLQPGILGDD EEEEEEEEEV EEDLETDGHC AERDSLLSTS 350
    SLASHDSTLS LASSQASGPA LSRHLLTSFV SGLSDGMDSG YVEDSEESSS 400
    EWPWRRGSQE RRGHRRPGQK FIRIYKLFKS TSQLVLRRDS RSLEGSSDTA 450
    LPLRRAGSLC SPLDEPVSPP SRAQRSRSLP QPKLGTQLPS WLLAPASRPQ 500
    RRRPFLSGDE DPKASTLRVV VFGSDRISGK VARAYSNLRR LENNRPLLTR 550
    FFKLQFFYVP VKRSHGTSPG ACPPPRSQTP SPPTDSPRHA SPGELGTTPW 600
    EESTNDISHY LGMLDPWYER NVLGLMHLPP EVLCQQSLKA EAQALEGSPT 650
    QLPILADMLL YYCRFAARPV LLQVYQTELT FITGEKTTEI FIHSLELGHS 700
    AATRAIKASG PGSKRLGIDG DREAVPLTLQ IIYSKGAISG RSRWSNLEKV 750
    CTSVNLNKAC RKQEELDSSM EALTLNLTEV VKRQNSKSKK GFNQISTSQI 800
    KVDKVQIIGS NSCPFAVCLD QDERKILQSV VRCEVSPCYK PEKSDLSSPP 850
    QTPPDLPAQA APDLCSLLCL PIMTFSGALP 880
    Length:880
    Mass (Da):97,348
    Last modified:March 1, 2002 - v1
    Checksum:i70E356773B148A8A
    GO
    Isoform 2 (identifier: Q8WYR1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-386: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:494
    Mass (Da):54,878
    Checksum:iC8962DD01304C8C3
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti15 – 151H → L in AAW63122. 1 PublicationCurated
    Sequence conflicti29 – 291R → C in AAW63122. 1 PublicationCurated
    Sequence conflicti47 – 471L → Q in AAW63122. 1 PublicationCurated
    Sequence conflicti95 – 951F → L in AAW63122. 1 PublicationCurated
    Sequence conflicti171 – 1711V → E in AAW63122. 1 PublicationCurated
    Sequence conflicti220 – 29778AKTLA…WSQDS → TLQNQGSSIPSPSLSPGATP TAGARTALTSCRKSCSRNRS CSSQGSWEMMKRRKRRRRRW RRTWKLMGTVPREIPCSP in AAW63122. 1 PublicationCuratedAdd
    BLAST
    Sequence conflicti299 – 36870DILQE…SQASG → GNIEGDPGPRRPDSAGLASL QTSCRKSCSRNRSYSSQGSW EMMKRRERRRRRWRRTWKLT GTVPREIPCS in AAW63121. 1 PublicationCuratedAdd
    BLAST
    Sequence conflicti674 – 6741V → L in AAD33397. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281R → C in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036227
    Natural varianti629 – 6291P → S in AOA3. 1 Publication
    Corresponds to variant rs61761068 [ dbSNP | Ensembl ].
    VAR_067052

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 386386Missing in isoform 2. 1 PublicationVSP_016388Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS11147.1. [Q8WYR1-1]
    RefSeqiNP_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]
    UniGeneiHs.278901.
    Hs.738684.

    Genome annotation databases

    EnsembliENST00000447110; ENSP00000392812; ENSG00000141506. [Q8WYR1-1]
    ENST00000581552; ENSP00000462433; ENSG00000141506. [Q8WYR1-1]
    GeneIDi23533.
    KEGGihsa:23533.
    UCSCiuc002glt.3. human. [Q8WYR1-1]

    Polymorphism databases

    DMDMi74716480.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS11147.1. [Q8WYR1-1 ]
    RefSeqi NP_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 ]
    UniGenei Hs.278901.
    Hs.738684.

    3D structure databases

    ProteinModelPortali Q8WYR1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117079. 5 interactions.
    IntActi Q8WYR1. 7 interactions.
    STRINGi 9606.ENSP00000269300.

    Chemistry

    BindingDBi Q8WYR1.

    PTM databases

    PhosphoSitei Q8WYR1.

    Polymorphism databases

    DMDMi 74716480.

    Proteomic databases

    MaxQBi Q8WYR1.
    PaxDbi Q8WYR1.
    PRIDEi Q8WYR1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000447110 ; ENSP00000392812 ; ENSG00000141506 . [Q8WYR1-1 ]
    ENST00000581552 ; ENSP00000462433 ; ENSG00000141506 . [Q8WYR1-1 ]
    GeneIDi 23533.
    KEGGi hsa:23533.
    UCSCi uc002glt.3. human. [Q8WYR1-1 ]

    Organism-specific databases

    CTDi 23533.
    GeneCardsi GC17M008724.
    H-InvDB HIX0027111.
    HGNCi HGNC:30035. PIK3R5.
    HPAi HPA052247.
    MIMi 611317. gene.
    615217. phenotype.
    neXtProti NX_Q8WYR1.
    Orphaneti 64753. Spinocerebellar ataxia with axonal neuropathy type 2.
    PharmGKBi PA134890823.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG27692.
    HOVERGENi HBG079651.
    InParanoidi Q8WYR1.
    KOi K02649.
    OMAi TRAIKAS.
    OrthoDBi EOG7RV9FH.
    PhylomeDBi Q8WYR1.
    TreeFami TF102035.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS13887-MONOMER.
    Reactomei REACT_121025. Synthesis of PIPs at the plasma membrane.
    REACT_1695. GPVI-mediated activation cascade.
    REACT_19290. G beta:gamma signalling through PI3Kgamma.

    Miscellaneous databases

    ChiTaRSi PIK3R5. human.
    GeneWikii PIK3R5.
    GenomeRNAii 23533.
    NextBioi 46026.
    PROi Q8WYR1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WYR1.
    Bgeei Q8WYR1.
    CleanExi HS_PIK3R5.
    Genevestigatori Q8WYR1.

    Family and domain databases

    InterProi IPR019522. PIK3R5/6.
    [Graphical view ]
    Pfami PF10486. PI3K_1B_p101. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-458 AND SER-507, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: TISSUE SPECIFICITY, VARIANT AOA3 SER-629.
    10. Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-28.

    Entry informationi

    Entry nameiPI3R5_HUMAN
    AccessioniPrimary (citable) accession number: Q8WYR1
    Secondary accession number(s): B0LPH4
    , D3DTS3, Q5G936, Q5G938, Q5G939, Q8IZ23, Q9Y2Y2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 6, 2005
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 91 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3