ACKR1

Chr 1ADAR

atypical chemokine receptor 1 (Duffy blood group)

Also known as: CCBP1, CD234, DARC, DARC/ACKR1, Dfy, FY, GPD, GpFy

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

[Blood group, Duffy system]MIM #110700
ADAR
[White blood cell count QTL]MIM #611862
AR
{Malaria, vivax, protection against}MIM #611162
1
Active trials
77
Pubs (1 yr)
P/LP submissions
P/LP missense
1.60
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.60LOEUF
pLI 0.000
Z-score 0.41
OE 0.83 (0.461.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.49Z-score
OE missense 1.10 (0.981.24)
193 obs / 174.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.83 (0.461.60)
00.351.4
Missense OE?1.10 (0.981.24)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 6 / 7.2Missense obs/exp: 193 / 174.8Syn Z: -0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ACKR1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.