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Aliases for ACKR1 Gene

Aliases for ACKR1 Gene

  • Atypical Chemokine Receptor 1 (Duffy Blood Group) 2 3 5
  • Duffy Blood Group, Chemokine Receptor 2 3
  • Atypical Chemokine Receptor 1 2 3
  • Plasmodium Vivax Receptor 3 4
  • Fy Glycoprotein 3 4
  • Glycoprotein D 3 4
  • DARC 3 4
  • GpFy 3 4
  • GPD 3 4
  • FY 3 4
  • Duffy Blood Group, Atypical Chemokine Receptor 2
  • Duffy Antigen Chemokine Receptor 3
  • Duffy Blood Group System Protein 3
  • Duffy Antigen/Chemokine Receptor 4
  • Duffy Blood Group Antigen 3
  • Duffy Blood Group 2
  • CD234 Antigen 4
  • DARC/ACKR1 3
  • CCBP1 3
  • CD234 3
  • WBCQ1 3
  • Dfy 3

External Ids for ACKR1 Gene

Previous HGNC Symbols for ACKR1 Gene

  • FY
  • DARC

Summaries for ACKR1 Gene

Entrez Gene Summary for ACKR1 Gene

  • 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]

GeneCards Summary for ACKR1 Gene

ACKR1 (Atypical Chemokine Receptor 1 (Duffy Blood Group)) is a Protein Coding gene. Diseases associated with ACKR1 include Malaria and Plasmodium Vivax Malaria. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot for ACKR1 Gene

  • 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, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Has a promiscuous chemokine-binding profile, interacting with inflammatory chemokines of both the CXC and the CC subfamilies but not with homeostatic chemokines. Acts as a receptor for chemokines including CCL2, CCL5, CCL7, CCL11, CCL13, CCL14, CCL17, CXCL5, CXCL6, IL8/CXCL8, CXCL11, GRO, RANTES, MCP-1, TARC and also for the malaria parasites P.vivax and P.knowlesi. May regulate chemokine bioavailability and, consequently, leukocyte recruitment through two distinct mechanisms: when expressed in endothelial cells, it sustains the abluminal to luminal transcytosis of tissue-derived chemokines and their subsequent presentation to circulating leukocytes; when expressed in erythrocytes, serves as blood reservoir of cognate chemokines but also as a chemokine sink, buffering potential surges in plasma chemokine levels.

Gene Wiki entry for ACKR1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACKR1 Gene

Genomics for ACKR1 Gene

Regulatory Elements for ACKR1 Gene

Enhancers for ACKR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G159172 1.1 FANTOM5 Ensembl ENCODE 17.6 -30.2 -30224 1.0 SMARCA4 TEAD4 CTBP2 RBBP5 EBF1 EZH2 ACKR1 CADM3-AS1 AIM2 ENSG00000212161 OR10J3 CADM3 OR6N1 OR6K3 FCER1A OR6N2
GH01G160187 1.5 Ensembl ENCODE dbSUPER 10.1 +987.5 987471 6.7 HDGF ARNT SIN3A ARID4B DMAP1 ZNF2 ZNF143 ZNF548 DEK SP5 NCSTN ENSG00000228606 CASQ1 SNHG28 RPSAP18 SLAMF8 ACKR1 CADM3-AS1 ATP1A4 CFAP45
GH01G159004 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.2 -192.2 -192235 12.6 HDGF PKNOX1 WRNIP1 SIN3A YY1 ZNF766 CBX5 ZNF207 FOS TBX21 IFI16 OR6N2 ACKR1 AIM2 PYHIN1 GC01M159011
GH01G159141 1 FANTOM5 Ensembl 11.3 -61.3 -61319 0.8 TBP MXI1 SREBF2 SIN3A REST EP300 POLR2H JUND POLR2A POLR3A OR6K3 OR6N1 FCER1A CADM3 ACKR1 CADM3-AS1 OR6N2 OR10J5 AIM2 OR10J1
GH01G160139 1 dbSUPER 10.6 +937.7 937685 3.3 ZNF493 ZFP64 FOS ZNF263 ZNF202 REST ZNF623 ZNF518A KAT8 ZNF592 ENSG00000228606 RPSAP18 CADM3-AS1 SNHG28 ATP1A4 CASQ1 ATP1A2 KLHDC9 DCAF8 IGSF8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACKR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACKR1 Gene

Chromosome:
1
Start:
159,203,307 bp from pter
End:
159,206,500 bp from pter
Size:
3,194 bases
Orientation:
Plus strand

Genomic View for ACKR1 Gene

Genes around ACKR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACKR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACKR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACKR1 Gene

Proteins for ACKR1 Gene

  • Protein details for ACKR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16570-ACKR1_HUMAN
    Recommended name:
    Atypical chemokine receptor 1
    Protein Accession:
    Q16570
    Secondary Accessions:
    • A8YPG5
    • O75898
    • Q16300
    • Q8WWE3
    • Q9UJP0
    • Q9UKZ5
    • Q9UKZ6
    • Q9UQE1

    Protein attributes for ACKR1 Gene

    Size:
    336 amino acids
    Molecular mass:
    35553 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ACKR1 Gene

    Alternative splice isoforms for ACKR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACKR1 Gene

Post-translational modifications for ACKR1 Gene

  • Glycosylation at posLast=1616 and posLast=3333
  • Modification sites at PhosphoSitePlus

Other Protein References for ACKR1 Gene

No data available for DME Specific Peptides for ACKR1 Gene

Domains & Families for ACKR1 Gene

Protein Domains for ACKR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q16570

UniProtKB/Swiss-Prot:

ACKR1_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Atypical chemokine receptor subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Atypical chemokine receptor subfamily.
genes like me logo Genes that share domains with ACKR1: view

Function for ACKR1 Gene

Molecular function for ACKR1 Gene

UniProtKB/Swiss-Prot 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, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Has a promiscuous chemokine-binding profile, interacting with inflammatory chemokines of both the CXC and the CC subfamilies but not with homeostatic chemokines. Acts as a receptor for chemokines including CCL2, CCL5, CCL7, CCL11, CCL13, CCL14, CCL17, CXCL5, CXCL6, IL8/CXCL8, CXCL11, GRO, RANTES, MCP-1, TARC and also for the malaria parasites P.vivax and P.knowlesi. May regulate chemokine bioavailability and, consequently, leukocyte recruitment through two distinct mechanisms: when expressed in endothelial cells, it sustains the abluminal to luminal transcytosis of tissue-derived chemokines and their subsequent presentation to circulating leukocytes; when expressed in erythrocytes, serves as blood reservoir of cognate chemokines but also as a chemokine sink, buffering potential surges in plasma chemokine levels.

Gene Ontology (GO) - Molecular Function for ACKR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 7689250
GO:0004888 transmembrane signaling receptor activity TAS 9058825
GO:0004930 G-protein coupled receptor activity IEA --
GO:0019956 chemokine binding IEA --
GO:0019957 C-C chemokine binding IPI 7517217
genes like me logo Genes that share ontologies with ACKR1: view
genes like me logo Genes that share phenotypes with ACKR1: view

Animal Models for ACKR1 Gene

MGI Knock Outs for ACKR1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACKR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ACKR1 Gene

Localization for ACKR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACKR1 Gene

Early endosome. Recycling endosome. Membrane; Multi-pass membrane protein. Note=Predominantly localizes to endocytic vesicles, and upon stimulation by the ligand is internalized via caveolae. Once internalized, the ligand dissociates from the receptor, and is targeted to degradation while the receptor is recycled back to the cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACKR1 gene
Compartment Confidence
plasma membrane 5
endosome 5
extracellular 1
cytoskeleton 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ACKR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ACKR1: view

Pathways & Interactions for ACKR1 Gene

genes like me logo Genes that share pathways with ACKR1: view

Pathways by source for ACKR1 Gene

Gene Ontology (GO) - Biological Process for ACKR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response NAS 10570183
GO:0006954 inflammatory response IBA --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0032642 regulation of chemokine production IBA --
genes like me logo Genes that share ontologies with ACKR1: view

No data available for SIGNOR curated interactions for ACKR1 Gene

Drugs & Compounds for ACKR1 Gene

(4) Drugs for ACKR1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for ACKR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ACKR1: view

Transcripts for ACKR1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACKR1

Alternative Splicing Database (ASD) splice patterns (SP) for ACKR1 Gene

No ASD Table

Relevant External Links for ACKR1 Gene

GeneLoc Exon Structure for
ACKR1
ECgene alternative splicing isoforms for
ACKR1

Expression for ACKR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACKR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACKR1 Gene

This gene is overexpressed in Lung (60.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACKR1 Gene



Protein tissue co-expression partners for ACKR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACKR1 Gene:

ACKR1

mRNA Expression by UniProt/SwissProt for ACKR1 Gene:

Q16570-ACKR1_HUMAN
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 principle tissues expressing duffy. Fy(-A-B) individuals do not express duffy in the bone marrow, however they do, in postcapillary venule endothelium.

Evidence on tissue expression from TISSUES for ACKR1 Gene

  • Blood(4.5)
  • Lung(4.4)
  • Bone marrow(4.3)
  • Nervous system(3.1)
  • Spleen(2.7)
  • Lymph node(2.6)
  • Heart(2.3)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with ACKR1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACKR1 Gene

Orthologs for ACKR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ACKR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DARC 35 34
  • 99.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DARC 34 35
  • 75.66 (n)
dog
(Canis familiaris)
Mammalia DARC 35 34
  • 74.14 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Darc 34
  • 72.61 (n)
mouse
(Mus musculus)
Mammalia Darc 35 34
  • 71.07 (n)
OneToOne
Ackr1 16
chicken
(Gallus gallus)
Aves DARC 35
  • 29 (a)
OneToOne
Species where no ortholog for ACKR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ACKR1 Gene

ENSEMBL:
Gene Tree for ACKR1 (if available)
TreeFam:
Gene Tree for ACKR1 (if available)

Paralogs for ACKR1 Gene

No data available for Paralogs for ACKR1 Gene

Variants for ACKR1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ACKR1 Gene

ACKR1_HUMAN-Q16570
DARC is responsible for the Duffy blood group system (FY) [MIM:110700]. The molecular basis of the Fy(A)=Fy1/Fy(B)=Fy2 blood group antigens is a single variation in position 42; Gly-42 corresponds to Fy(A) and Asp-42 to Fy(B). Individuals that do not produce the Duffy antigen (FY(A-B-)) are more resistant to infection by the malarial parasite Plasmodium vivax. This allele is found predominantly in population of African origin [MIM:611162].
ACKR1_HUMAN-Q16570
Genetic variations in DARC define the white blood cell count quantitative trait locus 1 (WBCQ1) [MIM:611862]. Peripheral white blood cell count (WBC) is a common clinical measurement, used to determine evidence of acute infammation or infection. Peripheral WBC is the sum of several cell types including neutrophils and lymphocytes, which are the most common types of WBC, as well as less common cell types such as eosinophils, basophils, and monocytes. Elevated WBC has been associated with risk of coronary heart disease, cancer, and all-cause mortality. White blood cell levels have widespread clinical applications including assessment of patients undergoing chemotherapy and evaluation of infection.

Sequence variations from dbSNP and Humsavar for ACKR1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2814778 Pathogenic 159,204,893(-) CCAAG(A/G)TAAGA upstream-variant-2KB, utr-variant-5-prime
rs34599082 Pathogenic 159,205,704(-) CCAGC(A/G)GAAGA reference, missense
rs587776507 Pathogenic 159,205,725(+) CTGGC(-/TGGCCTGTCCTGGC)ACAGC reference, frameshift-variant
rs12075 Benign 159,205,564(+) CTATG(A/G)TGCCA reference, missense
rs1000157237 -- 159,203,016(+) GTGTG(G/T)GTCTG upstream-variant-2KB, utr-variant-3-prime

Variation tolerance for ACKR1 Gene

Residual Variation Intolerance Score: 32.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.09; 61.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACKR1 Gene

Human Gene Mutation Database (HGMD)
ACKR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACKR1

No data available for Structural Variations from Database of Genomic Variants (DGV) for ACKR1 Gene

Disorders for ACKR1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for ACKR1 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
malaria
  • malaria, severe
plasmodium vivax malaria
  • malaria by plasmodium vivax
genital herpes
  • genital herpes simplex
neonatal herpes
  • neonatal herpes simplex virus infection
necrotizing gastritis
- elite association - COSMIC cancer census association via MalaCards
Search ACKR1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ACKR1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACKR1
genes like me logo Genes that share disorders with ACKR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACKR1 Gene

Publications for ACKR1 Gene

  1. Cloning of glycoprotein D cDNA, which encodes the major subunit of the Duffy blood group system and the receptor for the Plasmodium vivax malaria parasite. (PMID: 8248172) Chaudhuri A. … Pogo A. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 4 22 64
  2. Structure-function analysis of the extracellular domains of the Duffy antigen/receptor for chemokines: characterization of antibody and chemokine binding sites. (PMID: 12956774) Tournamille C. … Le Van Kim C. (Br. J. Haematol. 2003) 3 4 22 64
  3. Arg89Cys substitution results in very low membrane expression of the Duffy antigen/receptor for chemokines in Fy(x) individuals. (PMID: 9731074) Tournamille C. … Colin Y. (Blood 1998) 3 4 22 64
  4. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. (PMID: 7663520) Tournamille C. … Le van Kim C. (Nat. Genet. 1995) 2 3 4 64
  5. Genomic organization of the glycoprotein D gene: Duffy blood group Fya/Fyb alloantigen system is associated with a polymorphism at the 44-amino acid residue. (PMID: 7833467) Iwamoto S. … Ikemoto S. (Blood 1995) 3 4 22 64

Products for ACKR1 Gene

  • Addgene plasmids for ACKR1

Sources for ACKR1 Gene

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