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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
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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

Gene LinkOut

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