ACKR3 (atypical chemokine receptor 3)
2004-11-01 Karin Broberg   AffiliationMolecular biologist, Dep. of Occupational, Environmental Medicine, Lund University Hospital, SE-221 85 Lund, Sweden
Identity
HGNC
LOCATION
2q37.3
LOCUSID
ALIAS
CMKOR1,CXC-R7,CXCR-7,CXCR7,GPR159,RDC-1,RDC1
FUSION GENES
DNA/RNA
Description
The genomic size has been estimated to approximately 12.5-13.5 kb. RDC1 has previously been reported to contain only one exon of 1,09 kbp. However, the finding of a RDC1 transcript corresponding to four different regions with exon/intron boundaries in the BAC 514f21 suggests a more complex gene structure. The predicted amino acid sequence of exon 3 and 4 does not show any homology to the protein databases and, since they both contribute with stop codons, it could be questioned whether these sequences represent exons, or are part of an alternatively spliced 3 untranslated region of the gene.
Pseudogene
None
Proteins
Description
362 amino acids; 41522 Da
Expression
RDC1 is expressed in embryological, juvenile as well as adult tissues. Expression has been reported in e.g. bladder, spleen, heart, skeletal muscle, peripheral nervous system and placenta.
Localisation
Integral membrane protein
Function
Orphan receptor, but its endogenous ligand has not yet been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). RDC1 belongs to a family of G-protein coupled receptors, which includes hormone, neurotransmitter and light receptors, all of which transduce extracellular signals through interaction with guanine nucleotide (G) binding proteins.
Homology
RDC1 displays homology to other members of the large family of G-protein coupled receptors.
Mutations
Germinal
Single nucleotide polymorphisms
Somatic
Translocations involving RDC1 and HMGA2 has been reported in three lipomas (see below).
Implicated in
Entity name
Lipoma,
Disease
Benign adipocyte tumor
Prognosis
Good
Cytogenetics
Translocations involving 2q35-37 and 12q13-15 have been reported in six lipomas
Hybrid gene
Fusion between RDC1 and HMGA2 has been reported in three lipomas with rearrangement involving 2q35-37 and 12q13-15. The breakpoint occurred after the third exon of HMGA2, the most common breakpoint of this gene, and in a previously unknown 3 part of the RDC1 gene. The RDC1 part of the fusion was over 300 bp.
Fusion protein
The functional impact of this fusion is most likely a truncation of HMGA2, since the RDC1 part contributes with a stop codon one amino acid downstream of the breakpoint.
Oncogenesis
Not yet established
Entity name
Tenosynovial giant cell tumours
Disease
Benign tumor of synovium and tendon sheath
Prognosis
Good
Cytogenetics
Translocations involving 1p11-13 and 2q35-37 have been reported in eight cases of tenosynovial giant cell tumours.
Hybrid gene
Four out of seven cases of tenosynovial giant cell tumours with aberrations of 2q35-37 had breakpoints in a BAC probe 260J21 (BACPAC, Oakland), which contains the RDC1 gene.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12118328 | 2002 | Fusion of RDC1 with HMGA2 in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15. | Broberg K et al |
| 15277233 | 2004 | Vascular gene expression in nonneoplastic and malignant brain. | Madden SL et al |
| 1315461 | 1992 | RDC1 may not be VIP receptor. | Nagata S et al |
| 12447678 | 2002 | Molecular cytogenetic mapping of recurrent chromosomal breakpoints in tenosynovial giant cell tumors. | Nilsson M et al |
| 10623723 | 2000 | A putative G protein-coupled receptor, RDC1, is a novel coreceptor for human and simian immunodeficiency viruses. | Shimizu N et al |
| 1675791 | 1991 | Cloning and expression of the human vasoactive intestinal peptide receptor. | Sreedharan SP et al |
Other Information
Locus ID:
NCBI: 57007
MIM: 610376
HGNC: 23692
Ensembl: ENSG00000144476
Variants:
dbSNP: 57007
ClinVar: 57007
TCGA: ENSG00000144476
COSMIC: ACKR3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000144476 | ENST00000272928 | P25106 |
| ENSG00000144476 | ENST00000447924 | A0A140T9K6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38472446 | 2024 | Crosstalk between purinergic receptor P2Y(11) and chemokine receptor CXCR7 is regulated by CXCR4 in human macrophages. | 0 |
| 39008676 | 2024 | Conformational dynamics underlying atypical chemokine receptor 3 activation. | 1 |
| 38472446 | 2024 | Crosstalk between purinergic receptor P2Y(11) and chemokine receptor CXCR7 is regulated by CXCR4 in human macrophages. | 0 |
| 39008676 | 2024 | Conformational dynamics underlying atypical chemokine receptor 3 activation. | 1 |
| 36057461 | 2023 | Structural snapshot of a β-arrestin-biased receptor. | 1 |
| 36748819 | 2023 | Exploring the CXCR4/CXCR7/CXCL12 Axis in Primary Desmoid Tumors. | 0 |
| 36755058 | 2023 | CXCR7 as a novel therapeutic target for advanced prostate cancer. | 5 |
| 36988340 | 2023 | ACKR3 orchestrates Hedgehog signaling to promote renal cell carcinoma progression. | 3 |
| 37141639 | 2023 | BMP2 induces osteogenic differentiation through ACKR3 in mesenchymal stem cells. | 0 |
| 37252916 | 2023 | Reassessing the adrenomedullin scavenging function of ACKR3 in lymphatic endothelial cells. | 0 |
| 37474305 | 2023 | Atypical Chemokine Receptor 3 "Senses" CXC Chemokine Receptor 4 Activation Through GPCR Kinase Phosphorylation. | 5 |
| 37497001 | 2023 | CXCL12-CXCR4/CXCR7 Axis in Cancer: from Mechanisms to Clinical Applications. | 10 |
| 37950281 | 2023 | Regulation of the Hippo/YAP axis by CXCR7 in the tumorigenesis of gastric cancer. | 2 |
| 36057461 | 2023 | Structural snapshot of a β-arrestin-biased receptor. | 1 |
| 36748819 | 2023 | Exploring the CXCR4/CXCR7/CXCL12 Axis in Primary Desmoid Tumors. | 0 |
Citation
Karin Broberg
ACKR3 (atypical chemokine receptor 3)
Atlas Genet Cytogenet Oncol Haematol. 2004-11-01
Online version: http://atlasgeneticsoncology.org/gene/40108/ackr3-(atypical-chemokine-receptor-3)
