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

Gene ID: 2532, updated on 5-Aug-2018

Summary

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; 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; 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

Genomic context

See ACKR1 in Genome Data Viewer
Location:
1q23.2
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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)

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
C-C chemokine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
C-C chemokine binding IPI
Inferred from Physical Interaction
more info
PubMed 
G-protein coupled receptor activity IEA
Inferred from Electronic Annotation
more info
 
signaling 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
PubMed 
regulation of chemokine production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

General protein information

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
glycoprotein D
plasmodium vivax receptor

NCBI Reference Sequences (RefSeq)

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
    5001..7488
    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
    ENSP00000357103.2, OTTHUMP00000035294, ENST00000368121.4, OTTHUMT00000090339
    Conserved Domains (1) summary
    cd15010
    Location:62318
    7tmA_ACKR1_DARC; Duffy antigen receptor for chemokines, member of the class A family of seven-transmembrane G protein-coupled receptors
  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
    ENSP00000357104.1, OTTHUMP00000035293, ENST00000368122.3, OTTHUMT00000090338
    Conserved Domains (1) summary
    cd15010
    Location:60316
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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