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Q86SQ6

- GP123_HUMAN

UniProt

Q86SQ6 - GP123_HUMAN

Protein

Probable G-protein coupled receptor 123

Gene

GPR123

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 3 (30 Nov 2010)
      Previous versions | rss
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    Functioni

    Orphan receptor.

    GO - Molecular functioni

    1. G-protein coupled receptor activity Source: UniProtKB

    GO - Biological processi

    1. G-protein coupled receptor signaling pathway Source: GDB
    2. signal transduction Source: UniProtKB

    Keywords - Molecular functioni

    G-protein coupled receptor, Receptor, Transducer

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable G-protein coupled receptor 123
    Gene namesi
    Name:GPR123
    Synonyms:KIAA1828
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:13838. GPR123.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB
    2. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134910893.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 560560Probable G-protein coupled receptor 123PRO_0000070337Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi75 – 751N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ86SQ6.
    PRIDEiQ86SQ6.

    PTM databases

    PhosphoSiteiQ86SQ6.

    Expressioni

    Gene expression databases

    ArrayExpressiQ86SQ6.
    BgeeiQ86SQ6.
    CleanExiHS_GPR123.
    GenevestigatoriQ86SQ6.

    Organism-specific databases

    HPAiHPA042773.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000376384.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86SQ6.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1919ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini41 – 5313CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini75 – 8410ExtracellularSequence Analysis
    Topological domaini106 – 13429CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini156 – 17520ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini197 – 25761CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini279 – 2846ExtracellularSequence Analysis
    Topological domaini306 – 560255CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei20 – 4021Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei54 – 7421Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei85 – 10521Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei135 – 15521Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei176 – 19621Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei258 – 27821Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei285 – 30521Helical; Name=7Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG259400.
    HOGENOMiHOG000276895.
    HOVERGENiHBG062926.
    InParanoidiQ86SQ6.
    KOiK08460.
    OMAiSTHRSRV.
    OrthoDBiEOG7RV9F8.
    PhylomeDBiQ86SQ6.
    TreeFamiTF331206.

    Family and domain databases

    InterProiIPR017981. GPCR_2-like.
    IPR000832. GPCR_2_secretin-like.
    IPR017983. GPCR_2_secretin-like_CS.
    [Graphical view]
    PfamiPF00002. 7tm_2. 1 hit.
    [Graphical view]
    PROSITEiPS00650. G_PROTEIN_RECEP_F2_2. 1 hit.
    PS50261. G_PROTEIN_RECEP_F2_4. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 3 (identifier: Q86SQ6-3) [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

    MDLKTVLSLP RYPGEFLHPV VYACTAVMLL CLLASFVTYI VHQSAIRISR    50
    KGRHTLLNFC FHAALTFTVF AGGINRTKYP ILCQAVGIVL HYSTLSTMLW 100
    IGVTARNIYK QVTKKAPLCL DTDQPPYPRQ PLLRFYLVSG GVPFIICGVT 150
    AATNIRNYGT EDEDTAYCWM AWEPSLGAFY GPAAIITLVT CVYFLGTYVQ 200
    LRRHPGRRYE LRTQPEEQRR LATPEGGRGI RPGTPPAHDA PGASVLQNEH 250
    SFQAQLRAAA FTLFLFTATW AFGALAVSQG HFLDMVFSCL YGAFCVTLGL 300
    FVLIHHCAKR EDVWQCWWAC CPPRKDAHPA LDANGAALGR AACLHSPGLG 350
    QPRGFAHPPG PCKMTNLQAA QGHASCLSPA TPCCAKMHCE PLTADEAHVH 400
    LQEEGAFGHD PHLHGCLQGR TKPPYFSRHP AEEPEYAYHI PSSLDGSPRS 450
    SRTDSPPSSL DGPAGTHTLA CCTQGDPFPM VTQPEGSDGS PALYSCPTQP 500
    GREAALGPGH LEMLRRTQSL PFGGPSQNGL PKGKLLEGLP FGTDGTGNIR 550
    TGPWKNETTV 560
    Length:560
    Mass (Da):60,885
    Last modified:November 30, 2010 - v3
    Checksum:i1529EA836A679C5C
    GO
    Isoform 1 (identifier: Q86SQ6-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MRGHGNHSRL...GPLAACIPTQ
         167-167: Missing.

    Show »
    Length:1,279
    Mass (Da):137,203
    Checksum:iAF7FDE6401E30D54
    GO
    Isoform 2 (identifier: Q86SQ6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-97: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:463
    Mass (Da):50,101
    Checksum:i620377131CF9B583
    GO

    Sequence cautioni

    The sequence BAB47457.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti560 – 5601V → VW in AAO27353. (PubMed:12565841)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti183 – 1831A → S.
    Corresponds to variant rs34915504 [ dbSNP | Ensembl ].
    VAR_055931
    Natural varianti214 – 2141Q → L.
    Corresponds to variant rs34679676 [ dbSNP | Ensembl ].
    VAR_055932
    Isoform 1 (identifier: Q86SQ6-1)
    Natural varianti38 – 381T → I in an acute myeloid leukemia sample, somatic mutation.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9797Missing in isoform 2. 1 PublicationVSP_040207Add
    BLAST
    Alternative sequencei1 – 11M → MRGHGNHSRLKSRCASLGNV HHHQAQMAHGAHCRGGRTPQ SPDSRGPTAGGHTRGRWTYR PIEALINVSFPGAKGGRTAE GEPSWAWVFRSGYLQRQALP GLPVSTRVAACWWQHHPGRD SGFLGPGFIDLLREEPSGRA DGKAAAQKTGRLYLFPTFLG NKLPEAADSFGEIASGNSVI FTSVLQSSHPPGTPPPSARK PSPGAAMLVCEETLELGAQG CWGSTSPRGQAVSLVGGPTA GGSRLGGAGCTMGLLMALQA RRPRDGTWADPRRCSRAVEG SGLTRAALVSPGPSGVEEDT RREGCVLVGSWRSSTHRSRV LIINTPSGRTPWSQGSLGST GRYNQTRAPGSQQQGLCSDA ALHEDFVPEPTPAFFQYPPQ AFSKTKVRDLGRGGLYAFSK EEKVSEAQRVEAYETHGLGL STGRQNPVPSPCKPGCVCQG LALDAEAWPRHPGRRPCAAK EACLGPPGCSGELSLPEEEG IAPGAATAAPAWVPHGRVSR FLTVKLFTYVTMYQCKQERI LRLCISGESGRYVRRSRFRN FAALMVSTGVPGVLQLGARP LRGGGHPYGDSQAGKVVEWR AGDRASGLSAGERRFLSQSE LQTWPRTPHCVGKKVPQPVG AADLAPDTSLCRKEGSSASR SCRPGPGHLTRREEDSFRQL AFPRFEEVTFPPLTAAERAP SVHGGHSLASQGLVLAGRTR SVASGGKQELSGPLAACIPT Q in isoform 1. 1 PublicationVSP_040208
    Alternative sequencei167 – 1671Missing in isoform 1. 1 PublicationVSP_040209

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY181241 mRNA. Translation: AAO27353.1.
    EF536972 mRNA. Translation: ABQ08572.1.
    AB058731 mRNA. Translation: BAB47457.1. Different initiation.
    AL445199 Genomic DNA. Translation: CAO03417.1.
    AY255564 mRNA. Translation: AAO85076.1.
    CCDSiCCDS41580.1. [Q86SQ6-3]
    RefSeqiNP_001077378.1. NM_001083909.2. [Q86SQ6-3]
    NP_001278014.1. NM_001291085.1. [Q86SQ6-2]
    XP_005252752.1. XM_005252695.1. [Q86SQ6-1]
    UniGeneiHs.435183.

    Genome annotation databases

    EnsembliENST00000392606; ENSP00000376383; ENSG00000197177. [Q86SQ6-2]
    ENST00000392607; ENSP00000376384; ENSG00000197177. [Q86SQ6-3]
    ENST00000607359; ENSP00000475778; ENSG00000197177. [Q86SQ6-1]
    GeneIDi84435.
    KEGGihsa:84435.
    UCSCiuc001llw.3. human. [Q86SQ6-1]
    uc001llx.4. human. [Q86SQ6-3]

    Polymorphism databases

    DMDMi313104230.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY181241 mRNA. Translation: AAO27353.1 .
    EF536972 mRNA. Translation: ABQ08572.1 .
    AB058731 mRNA. Translation: BAB47457.1 . Different initiation.
    AL445199 Genomic DNA. Translation: CAO03417.1 .
    AY255564 mRNA. Translation: AAO85076.1 .
    CCDSi CCDS41580.1. [Q86SQ6-3 ]
    RefSeqi NP_001077378.1. NM_001083909.2. [Q86SQ6-3 ]
    NP_001278014.1. NM_001291085.1. [Q86SQ6-2 ]
    XP_005252752.1. XM_005252695.1. [Q86SQ6-1 ]
    UniGenei Hs.435183.

    3D structure databases

    ProteinModelPortali Q86SQ6.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000376384.

    Protein family/group databases

    GPCRDBi Search...

    PTM databases

    PhosphoSitei Q86SQ6.

    Polymorphism databases

    DMDMi 313104230.

    Proteomic databases

    PaxDbi Q86SQ6.
    PRIDEi Q86SQ6.

    Protocols and materials databases

    DNASUi 84435.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000392606 ; ENSP00000376383 ; ENSG00000197177 . [Q86SQ6-2 ]
    ENST00000392607 ; ENSP00000376384 ; ENSG00000197177 . [Q86SQ6-3 ]
    ENST00000607359 ; ENSP00000475778 ; ENSG00000197177 . [Q86SQ6-1 ]
    GeneIDi 84435.
    KEGGi hsa:84435.
    UCSCi uc001llw.3. human. [Q86SQ6-1 ]
    uc001llx.4. human. [Q86SQ6-3 ]

    Organism-specific databases

    CTDi 84435.
    GeneCardsi GC10P134884.
    HGNCi HGNC:13838. GPR123.
    HPAi HPA042773.
    MIMi 612302. gene.
    neXtProti NX_Q86SQ6.
    PharmGKBi PA134910893.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG259400.
    HOGENOMi HOG000276895.
    HOVERGENi HBG062926.
    InParanoidi Q86SQ6.
    KOi K08460.
    OMAi STHRSRV.
    OrthoDBi EOG7RV9F8.
    PhylomeDBi Q86SQ6.
    TreeFami TF331206.

    Miscellaneous databases

    GeneWikii GPR123.
    GenomeRNAii 84435.
    NextBioi 74175.
    PROi Q86SQ6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q86SQ6.
    Bgeei Q86SQ6.
    CleanExi HS_GPR123.
    Genevestigatori Q86SQ6.

    Family and domain databases

    InterProi IPR017981. GPCR_2-like.
    IPR000832. GPCR_2_secretin-like.
    IPR017983. GPCR_2_secretin-like_CS.
    [Graphical view ]
    Pfami PF00002. 7tm_2. 1 hit.
    [Graphical view ]
    PROSITEi PS00650. G_PROTEIN_RECEP_F2_2. 1 hit.
    PS50261. G_PROTEIN_RECEP_F2_4. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "There exist at least 30 human G-protein-coupled receptors with long Ser/Thr-rich N-termini."
      Fredriksson R., Gloriam D.E.I., Hoeglund P.J., Lagerstroem M.C., Schioeth H.B.
      Biochem. Biophys. Res. Commun. 301:725-734(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Complete coding sequence of human GPR123."
      Bonner T.I., Kauffman D., Nagle J.W., Sloger M.
      Submitted (APR-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Brain.
    3. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
      DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    4. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 94-465.
    6. Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-38 (ISOFORM 1).

    Entry informationi

    Entry nameiGP123_HUMAN
    AccessioniPrimary (citable) accession number: Q86SQ6
    Secondary accession number(s): A5HL16
    , A6NG50, Q5T234, Q86SN7, Q96JJ9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 13, 2004
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 102 of the entry and version 3 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. 7-transmembrane G-linked receptors
      List of 7-transmembrane G-linked receptor entries
    2. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3