ACKR1 (atypical chemokine receptor 1 (Duffy blood group))

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2532
Gene name Atypical chemokine receptor 1 (Duffy blood group)
Gene symbol ACKR1
Synonyms (NCBI Gene)
CCBP1CD234DARCDARC/ACKR1DfyFYGPDGpFyWBCQ1
Chromosome 1
Chromosome location 1q23.2
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 ge
SNPs SNP information provided by dbSNP.
3
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs2814778 T>C Pathogenic, association, protective 5 prime UTR variant
rs34599082 C>T Pathogenic Coding sequence variant, missense variant
rs587776507 TGGCCTGTCCTGGC>- Pathogenic Coding sequence variant, frameshift variant
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
DBP Unknown 22122911
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity TAS 9058825
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005515 Function Protein binding IPI 18230715, 21743458
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613665 4035 ENSG00000213088
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16570
Protein name Atypical chemokine receptor 1 (Duffy antigen receptor for chemokines) (Duffy antigen/chemokine receptor) (Duffy blood group antigen) (Fy glycoprotein) (GpFy) (Glycoprotein D) (Plasmodium vivax receptor) (CD antigen CD234)
Protein function Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation,
PDB 4NUU , 4NUV , 7P93 , 8A44 , 8JPS
Family and domains
Tissue specificity 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 p
Sequence 
MGNCLHRAELSPSTENSSQLDFEDVWNSSYGVNDSFPDGDYGANLEAAAPCHSCNLLDDS
ALPFFILTSVLGILASSTVLFMLFRPLFRWQLCPGWPVLAQLAVGSALFSIVVPVLAPGL
GSTRSSALCSLGYCVWYGSAFAQALLLGCHASLGHRLGAGQVPGLTLGLTVGIWGVAALL
TLPVTLASGASGGLCTLIYSTELKALQATHTVACLAIFVLLPLGLFGAKGLKKALGMGPG
PWMNILWAWFIFWWPHGVVLGLDFLVRSKLLLLSTCLAQQALDLLLNLAEALAILHCVAT
PLLLALFCHQATRTLLPSLPLPEGWSSHLDTLGSKS
Sequence length 336
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Malaria   Peptide ligand-binding receptors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE Pathogenic rs2814778, rs587776507 RCV000000006
RCV000000010
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Resistance to Plasmodium vivax infection Pathogenic rs2814778 RCV000000007
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
White blood cell count quantitative trait locus 1 Pathogenic rs2814778 RCV000000008
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (7)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ACKR1-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Duffy Blood group system Affects ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (67)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Hemolytic Hemolytic anemia Pubtator 36376015 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 21088296, 27711207, 36226494 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia LHGDN 18248572
★★★★★
★☆☆☆☆
Found in Text Mining only
Anosmia Anosmia Pubtator 27968956 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 30716778
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 31076525
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 18576313 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma LHGDN 18827265
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 18827265 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 29616048
★★★★★
★☆☆☆☆
Found in Text Mining only