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

    Gene ID: 2532, updated on 11-Apr-2024

    Summary

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    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 MIM:613665; AllianceGenome:HGNC:4035
    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; DARC/ACKR1
    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]
    Expression
    Broad expression in fat (RPKM 23.4), urinary bladder (RPKM 20.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACKR1 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (159204875..159206500)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (158341901..158343525)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (159174665..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 ATAC-STARR-seq lymphoblastoid silent region 1453 Neighboring gene CADM3 antisense RNA 1 Neighboring gene olfactory receptor family 10 subfamily J member 2 pseudogene Neighboring gene mucosal pentraxin 1 (pseudogene)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Structural basis for DARC binding in reticulocyte invasion by Plasmodium vivax. Moskovitz R, et al. Nat Commun, 2023 Jun 19. PMID 37336887, Free PMC Article
    2. Endothelial ACKR1 is induced by neutrophil contact and down-regulated by secretion in extracellular vesicles. Guo X, et al. Front Immunol, 2023. PMID 37153544, Free PMC Article
    3. Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients. Van Driest SL, et al. JAMA Intern Med, 2021 Aug 1. PMID 34180972, Free PMC Article
    4. Presence of "ACKR1/DARC null" polymorphism in Arabs from Jisr az-Zarqa with benign ethnic neutropenia. Elhadad D, et al. Pediatr Res, 2022 Apr. PMID 34175890
    5. The DARC-null trait is associated with moderate modulation of NK cell profiles and unaltered cytolytic T cell profiles in black South Africans. Naidoo KK, et al. PLoS One, 2020. PMID 33211774, Free PMC Article

    See all (157) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Allelic frequency variation of ACKR1 in three Algerian populations: Zenata, Reguibat, and Oran.
      Title: Allelic frequency variation of ACKR1 in three Algerian populations: Zenata, Reguibat, and Oran.
    2. Clinical and immunological features in ACKR1/DARC-associated neutropenia.
      Title: Clinical and immunological features in ACKR1/DARC-associated neutropenia.
    3. Single-cell Transcriptomic Analysis Reveals an Immunosuppressive Network Between POSTN CAFs and ACKR1 ECs in TKI-resistant Lung Cancer.
      Title: Single-cell Transcriptomic Analysis Reveals an Immunosuppressive Network Between POSTN CAFs and ACKR1 ECs in TKI-resistant Lung Cancer.
    4. Structural basis for DARC binding in reticulocyte invasion by Plasmodium vivax.
      Title: Structural basis for DARC binding in reticulocyte invasion by Plasmodium vivax.
    5. Endothelial ACKR1 is induced by neutrophil contact and down-regulated by secretion in extracellular vesicles.
      Title: Endothelial ACKR1 is induced by neutrophil contact and down-regulated by secretion in extracellular vesicles.
    6. Presence of ""ACKR1/DARC null"" polymorphism in Arabs from Jisr az-Zarqa with benign ethnic neutropenia.
      Title: Presence of "ACKR1/DARC null" polymorphism in Arabs from Jisr az-Zarqa with benign ethnic neutropenia.
    7. Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients.
      Title: Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients.
    8. The dimeric form of CXCL12 binds to atypical chemokine receptor 1.
      Title: The dimeric form of CXCL12 binds to atypical chemokine receptor 1.
    9. Investigation of triple-negative breast cancer risk alleles in an International African-enriched cohort.
      Title: Investigation of triple-negative breast cancer risk alleles in an International African-enriched cohort.
    10. ACKR1 Alleles at 5.6 kb in a Well-Characterized Renewable US Food and Drug Administration (FDA) Reference Panel for Standardization of Blood Group Genotyping.
      Title: ACKR1 Alleles at 5.6 kb in a Well-Characterized Renewable US Food and Drug Administration (FDA) Reference Panel for Standardization of Blood Group Genotyping.
    Submit: New GeneRIF Correction See all GeneRIFs (111)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Duffy Blood group system
    MedGen: C0013278 OMIM: 110700 GeneReviews: Not available
    		Compare labs
    Malaria, susceptibility to
    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

    EBI GWAS Catalog

    Description
    A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
    EBI GWAS Catalog
    A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
    EBI GWAS Catalog
    Bivariate genome-wide association study suggests that the DARC gene influences lean body mass and age at menarche.
    EBI GWAS Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
    EBI GWAS Catalog
    Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.
    EBI GWAS 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.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables C-C chemokine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables C-C chemokine binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables G protein-coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chemokine-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in defense response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of chemokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in recycling endosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    atypical chemokine receptor 1
    Names
    Duffy antigen chemokine receptor
    Duffy blood group antigen
    Duffy blood group system protein
    Duffy blood group, chemokine receptor
    Fy glycoprotein
    bloodgroup FY protein
    glycoprotein D
    plasmodium vivax receptor
    solute carrier family 29 member 1 (augustine blood group)

    NCBI Reference Sequences (RefSeq)

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    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_011626.3 RefSeqGene

      Range
      5863..7488
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_801

    mRNA and Protein(s)

    1. NM_001122951.3 → NP_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, CD703172, KF455042
      Consensus CDS
      CCDS44252.1
      UniProtKB/TrEMBL
      Q4VBN9, Q5Y7A1, Q5Y7A3
      Related
      ENSP00000357103.2, ENST00000368121.6
      Conserved Domains (1) summary
      cd15010
      Location:62 → 318
      7tmA_ACKR1_DARC; Duffy antigen receptor for chemokines, member of the class A family of seven-transmembrane G protein-coupled receptors

    2. NM_002036.4 → NP_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
      A8YPG5, O75898, Q16300, Q16570, Q8WWE3, Q9UJP0, Q9UKZ5, Q9UKZ6, Q9UQE1
      UniProtKB/TrEMBL
      A0A1C8Y868, A0A3G2KJS0, G0TQY8, Q5Y7A2, Q5Y7A4
      Related
      ENSP00000357104.1, ENST00000368122.4
      Conserved Domains (1) summary
      cd15010
      Location:60 → 316
      7tmA_ACKR1_DARC; Duffy antigen receptor for chemokines, member of the class A family of seven-transmembrane G protein-coupled receptors

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      159204875..159206500
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      158341901..158343525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16570.3 GenPept UniProtKB/Swiss-Prot:Q16570

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