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    ACKR1 atypical chemokine receptor 1 (Duffy blood group) [ Homo sapiens (human) ]

    Gene ID: 2532, updated on 3-Apr-2016
    Official Symbol
    ACKR1provided by HGNC
    Official Full Name
    atypical chemokine receptor 1 (Duffy blood group)provided by HGNC
    Primary source
    HGNC:HGNC:4035
    See related
    Ensembl:ENSG00000213088 HPRD:00192; MIM:613665; Vega:OTTHUMG00000037182
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FY; Dfy; GPD; DARC; GpFy; CCBP1; CD234; WBCQ1
    Summary
    The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    1q21-q22
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (159204013..159206500)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (159173803..159176290)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cell adhesion molecule 3 Neighboring gene RNA, 5S ribosomal pseudogene 60 Neighboring gene CADM3 antisense RNA 1 Neighboring gene olfactory receptor family 10 subfamily J member 2 pseudogene Neighboring gene mucosal pentraxin 1 (pseudogene)

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Duffy Blood group system
    MedGen: C0013278 OMIM: 110700 GeneReviews: Not available
    Compare labs
    Susceptibility to malaria
    MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
    Compare labs
    White blood cell count quantitative trait locus 1
    MedGen: C2676078 OMIM: 611862 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
    NHGRI GWA Catalog
    A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
    NHGRI GWA Catalog
    Bivariate genome-wide association study suggests that the DARC gene influences lean body mass and age at menarche.
    NHGRI GWA Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    NHGRI GWA Catalog
    Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
    NHGRI GWA Catalog
    Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.
    NHGRI GWA Catalog
    Genome-wide association replicates the association of Duffy antigen receptor for chemokines (DARC) polymorphisms with serum monocyte chemoattractant protein-1 (MCP-1) levels in Hispanic children.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Other, organism-specific biosystem (from WikiPathways)
      GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
    • Malaria, organism-specific biosystem (from KEGG)
      Malaria, organism-specific biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
    • Malaria, conserved biosystem (from KEGG)
      Malaria, conserved biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
    • Peptide GPCRs, organism-specific biosystem (from WikiPathways)
      Peptide GPCRs, organism-specific biosystem
      Peptide GPCRs
    • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    C-C chemokine binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    G-protein coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    chemokine-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    defense response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of chemokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    recycling endosome IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    atypical chemokine receptor 1
    Names
    Duffy antigen chemokine receptor
    Duffy blood group antigen
    Duffy blood group, atypical chemokine receptor
    Duffy blood group, chemokine receptor
    Fy glycoprotein
    duffy blood group chemokine receptor
    glycoprotein D
    plasmodium vivax receptor

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011626.1 RefSeqGene

      Range
      4294..6781
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001122951.2NP_001116423.1  atypical chemokine receptor 1 isoform a

      See identical proteins and their annotated locations for NP_001116423.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AL035403, BM671230, U01839
      Consensus CDS
      CCDS44252.1
      UniProtKB/Swiss-Prot
      Q16570
      UniProtKB/TrEMBL
      Q5Y7A1
      Related
      ENSP00000357103, OTTHUMP00000035294, ENST00000368121, OTTHUMT00000090339
    2. NM_002036.3NP_002027.2  atypical chemokine receptor 1 isoform b

      See identical proteins and their annotated locations for NP_002027.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AK291593, BM671230
      Consensus CDS
      CCDS1183.1
      UniProtKB/Swiss-Prot
      Q16570
      UniProtKB/TrEMBL
      Q5Y7A2
      Related
      ENSP00000357104, OTTHUMP00000035293, ENST00000368122, OTTHUMT00000090338

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      159204013..159206500
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      160569233..160571720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)