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UniProtKB/Swiss-Prot entry Q16570


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name DUFFY_HUMAN
Primary accession number Q16570
Secondary accession numbers O75898 Q16300 Q8WWE3 Q9UJP0 Q9UKZ5 Q9UKZ6 Q9UQE1
Integrated into Swiss-Prot on November 1, 1997
Sequence was last modified on June 7, 2005 (Sequence version 3)
Annotations were last modified on    July 1, 2008 (Entry version 79)
Name and origin of the protein
Protein name Duffy antigen/chemokine receptor
Synonyms Fy glycoprotein
GpFy
Glycoprotein D
Plasmodium vivax receptor
CD234 antigen
Gene name
Name: DARC
Synonyms: FY, GPD
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, AND VARIANT ASP-42.
TISSUE=Bone marrow;
PubMed=8248172 [NCBI, ExPASy, EBI, Israel, Japan]
Chaudhuri A., Polyakova J., Zbrzezna V., Williams K., Gulati S., Pogo A.;
"Cloning of glycoprotein D cDNA, which encodes the major subunit of the Duffy blood group system and the receptor for the Plasmodium vivax malaria parasite.";
Proc. Natl. Acad. Sci. U.S.A. 90:10793-10797(1993).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ASP-42.
TISSUE=Blood;
PubMed=7663520 [NCBI, ExPASy, EBI, Israel, Japan]
Tournamille C., Colin Y., Cartron J.-P., Le van Kim C.;
"Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals.";
Nat. Genet. 10:224-228(1995).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Blood;
PubMed=7833467 [NCBI, ExPASy, EBI, Israel, Japan]
Iwamoto S., Omi T., Kajii E., Ikemoto S.;
"Genomic organization of the glycoprotein D gene: Duffy blood group Fya/Fyb alloantigen system is associated with a polymorphism at the 44-amino acid residue.";
Blood 85:622-626(1995).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2), AND VARIANTS ASP-42; CYS-89 AND THR-100.
TISSUE=Blood;
PubMed=9731074 [NCBI, ExPASy, EBI, Israel, Japan]
Tournamille C., Le Van Kim C., Gane P., Le Pennec P.Y., Roubinet F., Babinet J., Cartron J.-P., Colin Y.;
"Arg89Cys substitution results in very low membrane expression of the Duffy antigen/receptor for chemokines in Fy(x) individuals.";
Blood 92:2147-2156(1998).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS ASP-42; CYS-89 AND THR-100.
DOI=10.1046/j.1365-2141.1998.01083.x; PubMed=9886340 [NCBI, ExPASy, EBI, Israel, Japan]
Olsson M.L., Smythe J.S., Hansson C., Poole J., Mallinson G., Jones J., Avent N.D., Daniels G.;
"The Fy(x) phenotype is associated with a missense mutation in the Fy(b) allele predicting Arg89Cys in the Duffy glycoprotein.";
Br. J. Haematol. 103:1184-1191(1998).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04727; PubMed=16710414 [NCBI, ExPASy, EBI, Israel, Japan]
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT PHE-326.
TISSUE=Lung;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-117 (ISOFORMS 1 AND 2).
DOI=10.1073/pnas.96.24.13973; PubMed=10570183 [NCBI, ExPASy, EBI, Israel, Japan]
Zimmerman P.A., Woolley I., Masinde G.L., Miller S.M., McNamara D.T., Hazlett F., Mgone C.S., Alpers M.P., Genton B., Boatin B.A., Kazura J.W.;
"Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea.";
Proc. Natl. Acad. Sci. U.S.A. 96:13973-13977(1999).
[9]
DISULFIDE BONDS, AND GLYCOSYLATION AT ASN-16.
DOI=10.1046/j.1365-2141.2003.04533.x; PubMed=12956774 [NCBI, ExPASy, EBI, Israel, Japan]
Tournamille C., Filipe A., Wasniowska K., Gane P., Lisowska E., Cartron J.-P., Colin Y., Le Van Kim C.;
"Structure-function analysis of the extracellular domains of the Duffy antigen/receptor for chemokines: characterization of antibody and chemokine binding sites.";
Br. J. Haematol. 122:1014-1023(2003).
[10]
VARIANT ASP-42.
TISSUE=Peripheral blood;
DOI=10.1007/BF00208965; PubMed=7705836 [NCBI, ExPASy, EBI, Israel, Japan]
Tournamille C., Le van Kim C., Gane P., Cartron J.-P., Colin Y.;
"Molecular basis and PCR-DNA typing of the Fya/fyb blood group polymorphism.";
Hum. Genet. 95:407-410(1995).
[11]
VARIANT CYS-89.
PubMed=9746760 [NCBI, ExPASy, EBI, Israel, Japan]
Parasol N., Reid M., Rios M., Castilho L., Harari I., Kosower N.S.;
"A novel mutation in the coding sequence of the FY*B allele of the Duffy chemokine receptor gene is associated with an altered erythrocyte phenotype.";
Blood 92:2237-2243(1998).
[12]
INVOLVEMENT IN WBCQ1.
DOI=10.1016/j.ajhg.2007.09.003; PubMed=18179887 [NCBI, ExPASy, EBI, Israel, Japan]
Nalls M.A., Wilson J.G., Patterson N.J., Tandon A., Zmuda J.M., Huntsman S., Garcia M., Hu D., Li R., Beamer B.A., Patel K.V., Akylbekova E.L., Files J.C., Hardy C.L., Buxbaum S.G., Taylor H.A., Reich D., Harris T.B., Ziv E.;
"Admixture mapping of white cell count: genetic locus responsible for lower white blood cell count in the Health ABC and Jackson Heart Studies.";
Am. J. Hum. Genet. 82:81-87(2008).
[13]
ERRATUM.
Nalls M.A., Wilson J.G., Patterson N.J., Tandon A., Zmuda J.M., Huntsman S., Garcia M., Hu D., Li R., Beamer B.A., Patel K.V., Akylbekova E.L., Files J.C., Hardy C.L., Buxbaum S.G., Taylor H.A., Reich D., Harris T.B., Ziv E.;
Am. J. Hum. Genet. 82:532-532(2008).
Comments
  • FUNCTION: Non-specific receptor for many chemokines such as IL-8, GRO, RANTES, MCP-1 and TARC. It is also the receptor for the human malaria parasites Plasmodium vivax and Plasmodium knowlesi.
  • SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
  • ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing.
    Name2
    Isoform IDQ16570-1
    This is the isoform sequence displayed in this entry.
    Name1
    Isoform IDQ16570-2
    Features which should be applied to build the isoform sequence: VSP_001323.
  • TISSUE SPECIFICITY: Found in adult kidney, adult spleen, bone marrow and fetal liver. In particular, it is expressed along postcapillary venules throughout the body, except in the adult liver. Erythroid cells and postcapillary venule endothelium are the principle tissues expressing duffy. Fy(-A-B) individuals do not express duffy in the bone marrow, however they do, in postcapillary venule endothelium.
  • POLYMORPHISM: DARC is responsible for the Duffy blood group system. The molecular basis of the Fy(A)=Fy1/Fy(B)=Fy2 blood group antigens is a single variation in position 42; Gly-42 corresponds to Fy(A) and Asp-42 to Fy(B).
  • POLYMORPHISM: Genetic variation in DARC is associated with white blood cell count quantitative trait locus type 1 (WBCQ1) [MIM:611862]. Peripheral white blood cell count (WBC) is a common clinical measurement, used to determine evidence of acute infammation or infection. Peripheral WBC is the sum of several cell types including neutrophils and lymphocytes, which are the most common types of WBC, as well as less common cell types such as eosinophils, basophils, and monocytes. Elevated WBC has been associated with risk of coronary heart disease, cancer, and all-cause mortality. White blood cell levels have widespread clinical applications including assessment of patients undergoing chemotherapy and evaluation of infection.
  • DISEASE: Individuals that do not produce the Duffy antigen (FY(A-B-)) are more resistant to vivax malaria. This allele is found predominantly in population of African origin.
  • SIMILARITY: Belongs to the G-protein coupled receptor Duffy family [view classification].
  • WEB RESOURCE: Name=BGMUT; Note=Blood group antigen gene mutation database"; URL="http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/systems_info&system=duffy";.
  • WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=DARC";.
  • WEB RESOURCE: Name=Wikipedia; Note=Duffy antigen entry; URL="http://en.wikipedia.org/wiki/Duffy_antigen";.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
U01839; AAC50055.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
X85785; CAA59770.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
S76830; AAB33239.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF055992; AAC72301.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF030521; AAD20435.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL035403; CAB56228.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC017817; AAH17817.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF100634; AAF02415.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF100634; AAF02416.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR I52608; I52608.
RefSeq NP_001116423.1; -.
NP_002027.2; -.
UniGene Hs.153381
3D structure databases
ModBase Q16570.
Protein-protein interaction databases
DIP DIP:3783N; -.
Protein family/group databases
GPCRDB Q16570; DUFFY_HUMAN.
Organism-specific databases
HGNC HGNC:4035; DARC.
GeneLynx DARC; Homo sapiens.
GenAtlas DARC.
MIM 110700; gene+phenotype. [NCBI / EBI]
611862; phenotype. [NCBI / EBI]
GeneCards Q16570.
Gene expression databases
ArrayExpress Q16570; -.
CleanEx HS_DARC; -.
GermOnline ENSG00000162706; Homo sapiens.
Ontologies
GO
GO:0005886; Cellular component: plasma membrane (traceable author statement from ProtInc).
GO:0004950; Molecular function: chemokine receptor activity (non-traceable author statement from UniProtKB).
GO:0006952; Biological process: defense response (non-traceable author statement from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR005384; Duffy_cmk_rcpt.
Graphical view of domain structure.
PANTHER PTHR14181; Duffy_cmk_rcpt; 1.
PRINTS PR01559; DUFFYANTIGEN.
BLOCKS Q16570.
Genome annotation databases
Ensembl ENSG00000213088; Homo sapiens. [Contig view]
GeneID 2532; -.
KEGG hsa:2532; -.
Phylogenomic databases
HOVERGEN Q16570; -.
Other
SOURCE DARC; Homo sapiens.
GPCRDB-Snakes Q16570.
ProtoNet Q16570.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Blood group antigen; Direct protein sequencing; G-protein coupled receptor; Glycoprotein; Membrane; Polymorphism; Receptor; Transducer; Transmembrane.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   336  336     Duffy antigen/chemokine receptor. PRO_0000152585
TOPO_DOM   1    63  63     Extracellular (Potential). 
TRANSMEM   64    84  21     1 (Potential). 
TOPO_DOM   85    95  11     Cytoplasmic (Potential). 
TRANSMEM   96   116  21     2 (Potential). 
TOPO_DOM   117   129  13     Extracellular (Potential). 
TRANSMEM   130   153  24     3 (Potential). 
TOPO_DOM   154   166  13     Cytoplasmic (Potential). 
TRANSMEM   167   187  21     4 (Potential). 
TOPO_DOM   188   207  20     Extracellular (Potential). 
TRANSMEM   208   228  21     5 (Potential). 
TOPO_DOM   229   244  16     Cytoplasmic (Potential). 
TRANSMEM   245   265  21     6 (Potential). 
TOPO_DOM   266   287  22     Extracellular (Potential). 
TRANSMEM   288   308  21     7 (Potential). 
TOPO_DOM   309   336  28     Cytoplasmic (Potential). 
CARBOHYD   16    16        N-linked (GlcNAc...). 
CARBOHYD   33    33        N-linked (GlcNAc...) (Potential). 
DISULFID   51   276         
DISULFID   129   195         
VAR_SEQ   1     7        MGNCLHR -> MASSGYVLQ (in isoform 1). VSP_001323
VARIANT   42    42  1     G -> D (antigen Fy(b); dbSNP:rs12075 [NCBI]). VAR_003480 
VARIANT   89    89  1     R -> C (antigen Fy(x); dbSNP:rs34599082 [NCBI]). VAR_015068 
VARIANT   100   100  1     A -> T (in dbSNP:rs13962 [NCBI]). VAR_015069 
VARIANT   203   203  1     L -> Q (in dbSNP:rs3027020 [NCBI]). VAR_044116 
VARIANT   326   326  1     S -> F (in dbSNP:rs17851570 [NCBI]). VAR_044117 
Sequence information
Length: 336 AA [This is the length of the unprocessed precursor] Molecular weight: 35553 Da [This is the MW of the unprocessed precursor] CRC64: C3F2A3E71D972E2D [This is a checksum on the sequence]
        10         20         30         40         50         60 
MGNCLHRAEL SPSTENSSQL DFEDVWNSSY GVNDSFPDGD YGANLEAAAP CHSCNLLDDS 

        70         80         90        100        110        120 
ALPFFILTSV LGILASSTVL FMLFRPLFRW QLCPGWPVLA QLAVGSALFS IVVPVLAPGL 

       130        140        150        160        170        180 
GSTRSSALCS LGYCVWYGSA FAQALLLGCH ASLGHRLGAG QVPGLTLGLT VGIWGVAALL 

       190        200        210        220        230        240 
TLPVTLASGA SGGLCTLIYS TELKALQATH TVACLAIFVL LPLGLFGAKG LKKALGMGPG 

       250        260        270        280        290        300 
PWMNILWAWF IFWWPHGVVL GLDFLVRSKL LLLSTCLAQQ ALDLLLNLAE ALAILHCVAT 

       310        320        330 
PLLLALFCHQ ATRTLLPSLP LPEGWSSHLD TLGSKS 

Q16570 in FASTA format

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View entry in raw text format (no links)
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