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Q86SQ6 (GP123_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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:
Probable G-protein coupled receptor 123
Gene names
Name:GPR123
Synonyms:KIAA1828
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length560 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Orphan receptor.

Subcellular location

Cell membrane; Multi-pass membrane protein.

Sequence similarities

Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.

Sequence caution

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 3 (identifier: Q86SQ6-3)

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 1 (identifier: Q86SQ6-1)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRGHGNHSRL...GPLAACIPTQ
     167-167: Missing.
Isoform 2 (identifier: Q86SQ6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 560560Probable G-protein coupled receptor 123
PRO_0000070337

Regions

Topological domain1 – 1919Extracellular Potential
Transmembrane20 – 4021Helical; Name=1; Potential
Topological domain41 – 5313Cytoplasmic Potential
Transmembrane54 – 7421Helical; Name=2; Potential
Topological domain75 – 8410Extracellular Potential
Transmembrane85 – 10521Helical; Name=3; Potential
Topological domain106 – 13429Cytoplasmic Potential
Transmembrane135 – 15521Helical; Name=4; Potential
Topological domain156 – 17520Extracellular Potential
Transmembrane176 – 19621Helical; Name=5; Potential
Topological domain197 – 25761Cytoplasmic Potential
Transmembrane258 – 27821Helical; Name=6; Potential
Topological domain279 – 2846Extracellular Potential
Transmembrane285 – 30521Helical; Name=7; Potential
Topological domain306 – 560255Cytoplasmic Potential

Amino acid modifications

Glycosylation751N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 9797Missing in isoform 2.
VSP_040207
Alternative sequence11M → 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.
VSP_040208
Alternative sequence1671Missing in isoform 1.
VSP_040209
Natural variant1831A → S.
Corresponds to variant rs34915504 [ dbSNP | Ensembl ].
VAR_055931
Natural variant2141Q → L.
Corresponds to variant rs34679676 [ dbSNP | Ensembl ].
VAR_055932
Isoform 1:
Natural variant381T → I in an acute myeloid leukemia sample, somatic mutation.

Experimental info

Sequence conflict5601V → VW in AAO27353. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 3 [UniParc].

Last modified November 30, 2010. Version 3.
Checksum: 1529EA836A679C5C

FASTA56060,885
        10         20         30         40         50         60 
MDLKTVLSLP RYPGEFLHPV VYACTAVMLL CLLASFVTYI VHQSAIRISR KGRHTLLNFC 

        70         80         90        100        110        120 
FHAALTFTVF AGGINRTKYP ILCQAVGIVL HYSTLSTMLW IGVTARNIYK QVTKKAPLCL 

       130        140        150        160        170        180 
DTDQPPYPRQ PLLRFYLVSG GVPFIICGVT AATNIRNYGT EDEDTAYCWM AWEPSLGAFY 

       190        200        210        220        230        240 
GPAAIITLVT CVYFLGTYVQ LRRHPGRRYE LRTQPEEQRR LATPEGGRGI RPGTPPAHDA 

       250        260        270        280        290        300 
PGASVLQNEH SFQAQLRAAA FTLFLFTATW AFGALAVSQG HFLDMVFSCL YGAFCVTLGL 

       310        320        330        340        350        360 
FVLIHHCAKR EDVWQCWWAC CPPRKDAHPA LDANGAALGR AACLHSPGLG QPRGFAHPPG 

       370        380        390        400        410        420 
PCKMTNLQAA QGHASCLSPA TPCCAKMHCE PLTADEAHVH LQEEGAFGHD PHLHGCLQGR 

       430        440        450        460        470        480 
TKPPYFSRHP AEEPEYAYHI PSSLDGSPRS SRTDSPPSSL DGPAGTHTLA CCTQGDPFPM 

       490        500        510        520        530        540 
VTQPEGSDGS PALYSCPTQP GREAALGPGH LEMLRRTQSL PFGGPSQNGL PKGKLLEGLP 

       550        560 
FGTDGTGNIR TGPWKNETTV 

« Hide

Isoform 1 [UniParc].

Checksum: AF7FDE6401E30D54
Show »

FASTA1,279137,203
Isoform 2 [UniParc].

Checksum: 620377131CF9B583
Show »

FASTA46350,101

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The G protein-coupled receptor repertoires of human and mouse."
Vassilatis D.K., Hohmann J.G., Zeng H., Li F., Ranchalis J.E., Mortrud M.T., Brown A., Rodriguez S.S., Weller J.R., Wright A.C., Bergmann J.E., Gaitanaris G.A.
Proc. Natl. Acad. Sci. U.S.A. 100:4903-4908(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 94-465.
[6]"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S. expand/collapse author list , Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., DiPersio J.F., Wilson R.K.
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-38 (ISOFORM 1).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001077378.1. NM_001083909.1.
XP_005252752.1. XM_005252695.1.
UniGeneHs.435183.

3D structure databases

ProteinModelPortalQ86SQ6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000376384.

Protein family/group databases

GPCRDBSearch...

PTM databases

PhosphoSiteQ86SQ6.

Polymorphism databases

DMDM143811399.

Proteomic databases

PaxDbQ86SQ6.
PRIDEQ86SQ6.

Protocols and materials databases

DNASU84435.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000392606; ENSP00000376383; ENSG00000197177. [Q86SQ6-2]
ENST00000392607; ENSP00000376384; ENSG00000197177. [Q86SQ6-3]
ENST00000607359; ENSP00000475778; ENSG00000197177. [Q86SQ6-1]
GeneID84435.
KEGGhsa:84435.
UCSCuc001llw.3. human. [Q86SQ6-1]
uc001llx.4. human. [Q86SQ6-3]

Organism-specific databases

CTD84435.
GeneCardsGC10P134884.
HGNCHGNC:13838. GPR123.
HPAHPA042773.
MIM612302. gene.
neXtProtNX_Q86SQ6.
PharmGKBPA134910893.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG259400.
HOGENOMHOG000276895.
HOVERGENHBG062926.
InParanoidQ86SQ6.
KOK08460.
OMADPFPMVS.
OrthoDBEOG7RV9F8.
TreeFamTF331206.

Gene expression databases

ArrayExpressQ86SQ6.
BgeeQ86SQ6.
CleanExHS_GPR123.
GenevestigatorQ86SQ6.

Family and domain databases

InterProIPR017981. GPCR_2-like.
IPR000832. GPCR_2_secretin-like.
IPR017983. GPCR_2_secretin-like_CS.
[Graphical view]
PfamPF00002. 7tm_2. 1 hit.
[Graphical view]
PROSITEPS00650. G_PROTEIN_RECEP_F2_2. 1 hit.
PS50261. G_PROTEIN_RECEP_F2_4. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGPR123.
GenomeRNAi84435.
NextBio74175.
PROQ86SQ6.
SOURCESearch...

Entry information

Entry nameGP123_HUMAN
AccessionPrimary (citable) accession number: Q86SQ6
Secondary accession number(s): A5HL16 expand/collapse secondary AC list , A6NG50, Q5T234, Q86SN7, Q96JJ9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: November 30, 2010
Last modified: March 19, 2014
This is version 98 of the entry and version 3 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

SIMILARITY comments

Index of protein domains and families

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 10

Human chromosome 10: entries, gene names and cross-references to MIM

7-transmembrane G-linked receptors

List of 7-transmembrane G-linked receptor entries