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

2014-04-01  

Identity

HGNC
ACKR1
LOCATION
1q23.2
LOCUSID
2532
ALIAS
CCBP1,CD234,DARC,DARC/ACKR1,Dfy,FY,GPD,GpFy,WBCQ1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2532
MIM: 613665
HGNC: 4035
Ensembl: ENSG00000213088

Variants:

dbSNP: 2532
ClinVar: 2532
TCGA: ENSG00000213088
COSMIC: ACKR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213088ENST00000368121Q16570
ENSG00000213088ENST00000368121Q5Y7A1
ENSG00000213088ENST00000368122Q16570
ENSG00000213088ENST00000368122Q5Y7A2
ENSG00000213088ENST00000537147Q16570
ENSG00000213088ENST00000537147Q5Y7A2

Expression (GTEx)

0
50
100
150
200
250
300
350
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MalariaKEGGko05144
MalariaKEGGhsa05144
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
202314342010Plasmodium vivax clinical malaria is commonly observed in Duffy-negative Malagasy people.163
191802332009Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene.132
191802332009Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene.132
163720202006Structural basis for Duffy recognition by the malaria parasite Duffy-binding-like domain.106
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
186210102008Duffy antigen receptor for chemokines mediates trans-infection of HIV-1 from red blood cells to target cells and affects HIV-AIDS susceptibility.77
220379032012Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.68
200407672010Duffy antigen receptor for chemokines (Darc) polymorphism regulates circulating concentrations of monocyte chemoattractant protein-1 and other inflammatory mediators.58
127343732003Duffy antigen facilitates movement of chemokine across the endothelium in vitro and promotes neutrophil transmigration in vitro and in vivo.46
244159382014Red blood cell invasion by Plasmodium vivax: structural basis for DBP engagement of DARC.46

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2014-04-01

Online version: http://atlasgeneticsoncology.org/gene/53860/ackr1