CXCR1 (C-X-C motif chemokine receptor 1) - Rat Genome Database

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Gene: CXCR1 (C-X-C motif chemokine receptor 1) Homo sapiens
Analyze
Symbol: CXCR1
Name: C-X-C motif chemokine receptor 1
RGD ID: 1353194
HGNC Page HGNC:6026
Description: Enables interleukin-8 binding activity and interleukin-8 receptor activity. Involved in cell surface receptor signaling pathway and receptor internalization. Predicted to be located in plasma membrane and secretory granule membrane. Predicted to be active in external side of plasma membrane. Implicated in human immunodeficiency virus infectious disease; pyelonephritis; and urinary tract infection. Biomarker of end stage renal disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C-C; C-C-CKR-1; C-X-C chemokine receptor type 1; CD128; CD181; CDw128a; chemokine (C-X-C motif) receptor 1; CKR-1; CMKAR1; CXC-R1; CXCR-1; high affinity interleukin-8 receptor A; IL-8 receptor type 1; IL-8R A; IL8R1; IL8RA; IL8RBA; interleukin 8 receptor, alpha; interleukin-8 receptor type 1; interleukin-8 receptor type A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,162,841 - 218,166,962 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,162,841 - 218,166,962 (-)EnsemblGRCh38hg38GRCh38
GRCh372219,027,564 - 219,031,685 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,735,813 - 218,739,961 (-)NCBINCBI36Build 36hg18NCBI36
Build 342218,853,075 - 218,857,222NCBI
Celera2212,794,153 - 212,798,301 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2210,880,311 - 210,884,459 (-)NCBIHuRef
CHM1_12219,034,054 - 219,038,202 (-)NCBICHM1_1
T2T-CHM13v2.02218,648,531 - 218,652,652 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Genetic variations of interleukin-8, CXCR1 and CXCR2 genes and risk of acute pyelonephritis in children. Javor J, etal., Int J Immunogenet. 2012 Aug;39(4):338-45. doi: 10.1111/j.1744-313X.2012.01096.x. Epub 2012 Feb 10.
3. A genetic basis of susceptibility to acute pyelonephritis. Lundstedt AC, etal., PLoS One. 2007 Sep 5;2(9):e825.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Role of CXCR1 (CKR-1) in Inflammation of Experimental Mesangioproliferative Glomerulonephritis. Ozaltin F, etal., Ren Fail. 2013 Jan 22.
6. Neutrophil and monocyte activation in chronic kidney disease patients under hemodialysis and its relationship with resistance to recombinant human erythropoietin and to the hemodialysis procedure. Pereira R, etal., Hemodial Int. 2010 Jul;14(3):295-301. doi: 10.1111/j.1542-4758.2010.00450.x.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Association of polymorphisms of interleukin-8, CXCR1, CXCR2, and selectin with allograft outcomes in kidney transplantation. Ro H, etal., Transplantation. 2011 Jan 15;91(1):57-64.
11. Association of Toll-like receptor 4 gene polymorphism and expression with urinary tract infection types in adults. Yin X, etal., PLoS One. 2010 Dec 3;5(12):e14223. doi: 10.1371/journal.pone.0014223.
12. Heightened Innate Immune Responses in the Respiratory Tract of COVID-19 Patients. Zhou Z, etal., Cell Host Microbe. 2020 Jun 10;27(6):883-890.e2. doi: 10.1016/j.chom.2020.04.017. Epub 2020 May 4.
Additional References at PubMed
PMID:1303245   PMID:1379593   PMID:1427896   PMID:1840701   PMID:2834384   PMID:7527448   PMID:7650389   PMID:7829970   PMID:7868904   PMID:7929358   PMID:8077663   PMID:8195702  
PMID:8316840   PMID:8381837   PMID:8384312   PMID:8486366   PMID:8500355   PMID:8662698   PMID:8702798   PMID:8903513   PMID:9260277   PMID:9692902   PMID:9843397   PMID:10368283  
PMID:10570306   PMID:10593335   PMID:10725748   PMID:10734056   PMID:10843722   PMID:11007922   PMID:11196695   PMID:11397869   PMID:11564821   PMID:12002274   PMID:12055238   PMID:12077146  
PMID:12239185   PMID:12442335   PMID:12477932   PMID:12535747   PMID:12576754   PMID:12628493   PMID:12651900   PMID:12870115   PMID:14688334   PMID:14713106   PMID:15028716   PMID:15133028  
PMID:15265017   PMID:15292066   PMID:15454487   PMID:15489334   PMID:15545821   PMID:15556942   PMID:15579377   PMID:15598788   PMID:15618253   PMID:15641067   PMID:15764156   PMID:15772681  
PMID:15793866   PMID:15815621   PMID:15902300   PMID:15946947   PMID:16098254   PMID:16205979   PMID:16406804   PMID:16411061   PMID:16500343   PMID:16621978   PMID:16679868   PMID:16897191  
PMID:16950632   PMID:16987681   PMID:17026468   PMID:17169533   PMID:17204468   PMID:17207897   PMID:17295203   PMID:17296422   PMID:17360650   PMID:17361014   PMID:17596666   PMID:17604950  
PMID:17672867   PMID:17876799   PMID:17996233   PMID:18025257   PMID:18059279   PMID:18240029   PMID:18577758   PMID:18667484   PMID:18676680   PMID:18676870   PMID:18818748   PMID:19012493  
PMID:19019335   PMID:19118103   PMID:19151925   PMID:19401689   PMID:19423540   PMID:19505916   PMID:19527514   PMID:19573080   PMID:19585580   PMID:19625176   PMID:19634663   PMID:19681642  
PMID:19692168   PMID:19735481   PMID:19773279   PMID:19773451   PMID:19890050   PMID:19913121   PMID:20016196   PMID:20016852   PMID:20044480   PMID:20089160   PMID:20237496   PMID:20406964  
PMID:20438785   PMID:20452482   PMID:20453000   PMID:20628086   PMID:20630874   PMID:20811626   PMID:21036625   PMID:21042230   PMID:21048114   PMID:21297633   PMID:21323370   PMID:21555225  
PMID:21749879   PMID:21873635   PMID:21915051   PMID:21988832   PMID:21989491   PMID:22019593   PMID:22024025   PMID:22051099   PMID:22076427   PMID:22088968   PMID:22152684   PMID:22171941  
PMID:22174157   PMID:22242662   PMID:22262769   PMID:22482416   PMID:22489883   PMID:22563025   PMID:22626766   PMID:22763101   PMID:22904195   PMID:22936990   PMID:23086146   PMID:23128233  
PMID:23166320   PMID:23349885   PMID:23396733   PMID:23470693   PMID:23525041   PMID:23904157   PMID:23912333   PMID:24139401   PMID:24161763   PMID:24164922   PMID:24442768   PMID:24462138  
PMID:24489825   PMID:24623414   PMID:24662979   PMID:24678812   PMID:24914212   PMID:24946112   PMID:25022956   PMID:25031742   PMID:25051350   PMID:25081383   PMID:25121556   PMID:25200966  
PMID:25327289   PMID:25426644   PMID:26065367   PMID:26087179   PMID:26267317   PMID:26302999   PMID:26316141   PMID:26617848   PMID:26791948   PMID:26847910   PMID:26983663   PMID:27032929  
PMID:27105439   PMID:27151689   PMID:27227934   PMID:27578214   PMID:27780937   PMID:27966653   PMID:27974825   PMID:28454081   PMID:29143165   PMID:29262362   PMID:29457550   PMID:29577511  
PMID:29749433   PMID:29931443   PMID:30086759   PMID:30341468   PMID:30384436   PMID:30738331   PMID:30883740   PMID:31115225   PMID:31250425   PMID:31613654   PMID:31666007   PMID:31858554  
PMID:32296183   PMID:32800946   PMID:33090404   PMID:33411234   PMID:33582208   PMID:34014914   PMID:34050991   PMID:34151690   PMID:34516330   PMID:34730557   PMID:35920183   PMID:36086981  
PMID:37137833   PMID:37770496   PMID:37786235  


Genomics

Comparative Map Data
CXCR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,162,841 - 218,166,962 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,162,841 - 218,166,962 (-)EnsemblGRCh38hg38GRCh38
GRCh372219,027,564 - 219,031,685 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,735,813 - 218,739,961 (-)NCBINCBI36Build 36hg18NCBI36
Build 342218,853,075 - 218,857,222NCBI
Celera2212,794,153 - 212,798,301 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2210,880,311 - 210,884,459 (-)NCBIHuRef
CHM1_12219,034,054 - 219,038,202 (-)NCBICHM1_1
T2T-CHM13v2.02218,648,531 - 218,652,652 (-)NCBIT2T-CHM13v2.0
Cxcr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39174,228,862 - 74,233,867 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl174,230,944 - 74,233,790 (-)EnsemblGRCm39 Ensembl
GRCm38174,191,785 - 74,194,708 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl174,191,785 - 74,194,631 (-)EnsemblGRCm38mm10GRCm38
MGSCv37174,238,359 - 74,241,205 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36174,124,992 - 74,126,442 (-)NCBIMGSCv36mm8
Celera174,753,154 - 74,755,998 (-)NCBICelera
Cytogenetic Map1C3NCBI
cM Map138.44NCBI
Cxcr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8983,216,040 - 83,220,225 (-)NCBIGRCr8
mRatBN7.2975,766,894 - 75,771,079 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl975,766,770 - 75,771,084 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx984,221,913 - 84,222,962 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0989,350,842 - 89,351,891 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0987,737,061 - 87,738,110 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0981,466,430 - 81,469,299 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl981,466,332 - 81,469,274 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0981,232,019 - 81,235,417 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4973,510,488 - 73,511,537 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1973,657,469 - 73,658,519 (-)NCBI
Celera973,345,732 - 73,346,781 (-)NCBICelera
Cytogenetic Map9q33NCBI
Cxcr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545315,194,205 - 15,195,272 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545315,181,027 - 15,196,224 (+)NCBIChiLan1.0ChiLan1.0
CXCR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213120,802,384 - 120,862,522 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B120,817,351 - 120,877,489 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B105,429,576 - 105,433,243 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B224,027,533 - 224,031,675 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B224,028,838 - 224,029,890 (-)Ensemblpanpan1.1panPan2
Cxcr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303174,371,818 - 174,373,425 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936569715,129 - 716,181 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936569715,129 - 716,187 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CXCR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110104,052,709 - 104,056,388 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10104,053,544 - 104,054,620 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604095,344,477 - 95,348,616 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cxcr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248236,859,356 - 6,860,426 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248236,857,649 - 6,861,219 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CXCR1
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
IL8RA, HAPLOTYPE Ha single nucleotide variant Acquired immunodeficiency syndrome, slow progression to [RCV000015939] Chr2:2q35 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3
pathogenic
NM_000634.2(CXCR1):c.849C>T (p.Ile283=) single nucleotide variant Malignant melanoma [RCV000065414] Chr2:218164363 [GRCh38]
Chr2:219029086 [GRCh37]
Chr2:218737331 [NCBI36]
Chr2:2q35
not provided
NM_000634.2(CXCR1):c.816G>A (p.Val272=) single nucleotide variant Malignant melanoma [RCV000065415] Chr2:218164396 [GRCh38]
Chr2:219029119 [GRCh37]
Chr2:218737364 [NCBI36]
Chr2:2q35
not provided
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3
likely pathogenic
NM_000634.3(CXCR1):c.608G>A (p.Arg203Gln) single nucleotide variant Susceptibility to HIV infection [RCV003224403] Chr2:218164604 [GRCh38]
Chr2:219029327 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q35(chr2:218647714-219053933) copy number gain Abnormal esophagus morphology [RCV000416700] Chr2:218647714..219053933 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000634.3(CXCR1):c.595C>T (p.Arg199Trp) single nucleotide variant Inborn genetic diseases [RCV003300334] Chr2:218164617 [GRCh38]
Chr2:219029340 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.827G>C (p.Ser276Thr) single nucleotide variant Cholangiocarcinoma [RCV003312796] Chr2:218164385 [GRCh38]
Chr2:219029108 [GRCh37]
Chr2:2q35
other
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3
pathogenic
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000634.3(CXCR1):c.633C>A (p.Phe211Leu) single nucleotide variant not provided [RCV000879543] Chr2:218164579 [GRCh38]
Chr2:219029302 [GRCh37]
Chr2:2q35
benign
GRCh37/hg19 2q35(chr2:218271898-219825640) copy number gain not provided [RCV000767784] Chr2:218271898..219825640 [GRCh37]
Chr2:2q35
likely pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
NM_000634.3(CXCR1):c.1025C>T (p.Ser342Leu) single nucleotide variant not provided [RCV000959840] Chr2:218164187 [GRCh38]
Chr2:219028910 [GRCh37]
Chr2:2q35
benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_000634.3(CXCR1):c.288C>T (p.Ala96=) single nucleotide variant not provided [RCV000974048] Chr2:218164924 [GRCh38]
Chr2:219029647 [GRCh37]
Chr2:2q35
benign
NM_000634.3(CXCR1):c.835C>T (p.Arg279Cys) single nucleotide variant not provided [RCV000906386] Chr2:218164377 [GRCh38]
Chr2:219029100 [GRCh37]
Chr2:2q35
likely benign
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35
pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35
likely pathogenic
NM_000634.3(CXCR1):c.3G>A (p.Met1Ile) single nucleotide variant Susceptibility to HIV infection [RCV001280985] Chr2:218165209 [GRCh38]
Chr2:219029932 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.679C>A (p.Arg227Ser) single nucleotide variant not provided [RCV001355497] Chr2:218164533 [GRCh38]
Chr2:219029256 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q35(chr2:218210665-220141650) copy number gain not specified [RCV002053284] Chr2:218210665..220141650 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1
pathogenic
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.284G>C (p.Trp95Ser) single nucleotide variant Inborn genetic diseases [RCV002729779] Chr2:218164928 [GRCh38]
Chr2:219029651 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.607C>T (p.Arg203Trp) single nucleotide variant Inborn genetic diseases [RCV002685118] Chr2:218164605 [GRCh38]
Chr2:219029328 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.856G>A (p.Ala286Thr) single nucleotide variant Inborn genetic diseases [RCV002905950] Chr2:218164356 [GRCh38]
Chr2:219029079 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.56G>T (p.Gly19Val) single nucleotide variant Inborn genetic diseases [RCV002762865] Chr2:218165156 [GRCh38]
Chr2:219029879 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.332A>G (p.Lys111Arg) single nucleotide variant Inborn genetic diseases [RCV002951575] Chr2:218164880 [GRCh38]
Chr2:219029603 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.875T>C (p.Ile292Thr) single nucleotide variant Inborn genetic diseases [RCV002823007] Chr2:218164337 [GRCh38]
Chr2:219029060 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.1001A>G (p.His334Arg) single nucleotide variant Inborn genetic diseases [RCV002848812] Chr2:218164211 [GRCh38]
Chr2:219028934 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.101C>T (p.Thr34Ile) single nucleotide variant Inborn genetic diseases [RCV002694357] Chr2:218165111 [GRCh38]
Chr2:219029834 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.64C>T (p.Pro22Ser) single nucleotide variant Inborn genetic diseases [RCV002826313] Chr2:218165148 [GRCh38]
Chr2:219029871 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.67G>A (p.Ala23Thr) single nucleotide variant Inborn genetic diseases [RCV002986377] Chr2:218165145 [GRCh38]
Chr2:219029868 [GRCh37]
Chr2:2q35
likely benign
NM_000634.3(CXCR1):c.402C>G (p.Asp134Glu) single nucleotide variant Inborn genetic diseases [RCV002812597] Chr2:218164810 [GRCh38]
Chr2:219029533 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.587C>T (p.Ala196Val) single nucleotide variant Inborn genetic diseases [RCV002746971] Chr2:218164625 [GRCh38]
Chr2:219029348 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.61C>T (p.Pro21Ser) single nucleotide variant Inborn genetic diseases [RCV002920911] Chr2:218165151 [GRCh38]
Chr2:219029874 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.727G>T (p.Val243Phe) single nucleotide variant Inborn genetic diseases [RCV002809721] Chr2:218164485 [GRCh38]
Chr2:219029208 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.158G>A (p.Ser53Asn) single nucleotide variant Inborn genetic diseases [RCV002832005] Chr2:218165054 [GRCh38]
Chr2:219029777 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.667G>A (p.Gly223Arg) single nucleotide variant Inborn genetic diseases [RCV003184002] Chr2:218164545 [GRCh38]
Chr2:219029268 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.838C>T (p.Arg280Cys) single nucleotide variant Susceptibility to HIV infection [RCV003224665] Chr2:218164374 [GRCh38]
Chr2:219029097 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1
pathogenic
NM_000634.3(CXCR1):c.412G>A (p.Ala138Thr) single nucleotide variant Inborn genetic diseases [RCV003381120] Chr2:218164800 [GRCh38]
Chr2:219029523 [GRCh37]
Chr2:2q35
uncertain significance
NM_000634.3(CXCR1):c.997C>T (p.Arg333Cys) single nucleotide variant Inborn genetic diseases [RCV003354179] Chr2:218164215 [GRCh38]
Chr2:219028938 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:595
Count of miRNA genes:464
Interacting mature miRNAs:501
Transcripts:ENST00000295683
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
PMC135988P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,029,078 - 219,029,460UniSTSGRCh37
Build 362218,737,323 - 218,737,705RGDNCBI36
Celera2212,795,663 - 212,796,045RGD
Cytogenetic Map2q35UniSTS
HuRef2210,881,821 - 210,882,203UniSTS
PMC155779P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,000,289 - 219,000,478UniSTSGRCh37
GRCh372219,029,009 - 219,029,197UniSTSGRCh37
Build 362218,708,534 - 218,708,723RGDNCBI36
Celera2212,795,594 - 212,795,782UniSTS
Celera2212,766,723 - 212,766,912RGD
Cytogenetic Map2q35UniSTS
HuRef2210,881,752 - 210,881,940UniSTS
PMC155779P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372218,999,843 - 219,000,478UniSTSGRCh37
GRCh372219,029,009 - 219,029,643UniSTSGRCh37
Build 362218,708,088 - 218,708,723RGDNCBI36
Celera2212,795,594 - 212,796,228UniSTS
Celera2212,766,277 - 212,766,912RGD
Cytogenetic Map2q35UniSTS
HuRef2210,881,752 - 210,882,386UniSTS
PMC310709P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372218,999,774 - 219,000,219UniSTSGRCh37
GRCh372218,925,450 - 218,925,894UniSTSGRCh37
Build 362218,633,695 - 218,634,139RGDNCBI36
Celera2212,693,338 - 212,693,782RGD
Celera2212,766,208 - 212,766,653UniSTS
Cytogenetic Map2q35UniSTS
HuRef2210,882,009 - 210,882,455UniSTS
HuRef2210,779,822 - 210,780,266UniSTS
HuRef2210,852,529 - 210,852,974UniSTS
D2S2592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,028,312 - 219,028,659UniSTSGRCh37
Build 362218,736,557 - 218,736,904RGDNCBI36
Celera2212,794,897 - 212,795,244RGD
Cytogenetic Map2q35UniSTS
HuRef2210,881,055 - 210,881,402UniSTS
Stanford-G3 RH Map28583.0UniSTS
GeneMap99-GB4 RH Map2680.26UniSTS
Whitehead-RH Map21005.4UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21717.1UniSTS
GeneMap99-G3 RH Map29422.0UniSTS
RH70867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,028,565 - 219,028,745UniSTSGRCh37
Build 362218,736,810 - 218,736,990RGDNCBI36
Celera2212,795,150 - 212,795,330RGD
Cytogenetic Map2q35UniSTS
HuRef2210,881,308 - 210,881,488UniSTS
GeneMap99-GB4 RH Map2680.95UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 311 311
Medium 20 473 4 3 686 3 15 8 3 4 6 344 1 80 8
Low 716 1043 789 342 149 276 1581 665 1059 166 450 679 68 1 887 951 1
Below cutoff 1484 1073 832 227 244 136 2343 1412 2398 169 823 363 96 237 1717 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB032728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB032729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB032730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB032731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB032732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY651785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY916762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY916763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY916764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY916765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY916766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY916769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY916772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY916773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA425329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M68932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U11870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U11871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000295683   ⟹   ENSP00000295683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,162,841 - 218,166,962 (-)Ensembl
RefSeq Acc Id: NM_000634   ⟹   NP_000625
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,162,841 - 218,166,962 (-)NCBI
GRCh372219,027,568 - 219,031,716 (-)ENTREZGENE
Build 362218,735,813 - 218,739,961 (-)NCBI Archive
HuRef2210,880,311 - 210,884,459 (-)ENTREZGENE
CHM1_12219,034,054 - 219,038,202 (-)NCBI
T2T-CHM13v2.02218,648,531 - 218,652,652 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000625 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA59159 (Get FASTA)   NCBI Sequence Viewer  
  AAA59160 (Get FASTA)   NCBI Sequence Viewer  
  AAA64378 (Get FASTA)   NCBI Sequence Viewer  
  AAA64379 (Get FASTA)   NCBI Sequence Viewer  
  AAB59436 (Get FASTA)   NCBI Sequence Viewer  
  AAH28221 (Get FASTA)   NCBI Sequence Viewer  
  AAH72397 (Get FASTA)   NCBI Sequence Viewer  
  AAT46689 (Get FASTA)   NCBI Sequence Viewer  
  AAX93212 (Get FASTA)   NCBI Sequence Viewer  
  AAY21512 (Get FASTA)   NCBI Sequence Viewer  
  AAY21513 (Get FASTA)   NCBI Sequence Viewer  
  AAY21514 (Get FASTA)   NCBI Sequence Viewer  
  AAY21515 (Get FASTA)   NCBI Sequence Viewer  
  AAY21516 (Get FASTA)   NCBI Sequence Viewer  
  AAY21519 (Get FASTA)   NCBI Sequence Viewer  
  AAY21522 (Get FASTA)   NCBI Sequence Viewer  
  AAY21523 (Get FASTA)   NCBI Sequence Viewer  
  BAA92290 (Get FASTA)   NCBI Sequence Viewer  
  BAA92291 (Get FASTA)   NCBI Sequence Viewer  
  BAA92292 (Get FASTA)   NCBI Sequence Viewer  
  BAA92293 (Get FASTA)   NCBI Sequence Viewer  
  BAA92294 (Get FASTA)   NCBI Sequence Viewer  
  BAG35550 (Get FASTA)   NCBI Sequence Viewer  
  BAG60821 (Get FASTA)   NCBI Sequence Viewer  
  CAA46688 (Get FASTA)   NCBI Sequence Viewer  
  CAG46791 (Get FASTA)   NCBI Sequence Viewer  
  CAG46826 (Get FASTA)   NCBI Sequence Viewer  
  EAW70590 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000295683
  ENSP00000295683.2
GenBank Protein P25024 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000625   ⟸   NM_000634
- UniProtKB: Q9P2U1 (UniProtKB/Swiss-Prot),   Q9P2U0 (UniProtKB/Swiss-Prot),   Q9P2T9 (UniProtKB/Swiss-Prot),   Q9P2T8 (UniProtKB/Swiss-Prot),   Q8N6T6 (UniProtKB/Swiss-Prot),   Q6IN95 (UniProtKB/Swiss-Prot),   Q53R18 (UniProtKB/Swiss-Prot),   Q2YEG8 (UniProtKB/Swiss-Prot),   Q2YEG7 (UniProtKB/Swiss-Prot),   Q2YEG5 (UniProtKB/Swiss-Prot),   Q2YEG4 (UniProtKB/Swiss-Prot),   Q2YEF8 (UniProtKB/Swiss-Prot),   B2R6Q3 (UniProtKB/Swiss-Prot),   Q9P2U2 (UniProtKB/Swiss-Prot),   P25024 (UniProtKB/Swiss-Prot),   B4DQ59 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000295683   ⟸   ENST00000295683
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P25024-F1-model_v2 AlphaFold P25024 1-350 view protein structure

Promoters
RGD ID:6862782
Promoter ID:EPDNEW_H4556
Type:initiation region
Name:CXCR1_1
Description:C-X-C motif chemokine receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,166,962 - 218,167,022EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6026 AgrOrtholog
COSMIC CXCR1 COSMIC
Ensembl Genes ENSG00000163464 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000295683 ENTREZGENE
  ENST00000295683.3 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163464 GTEx
HGNC ID HGNC:6026 ENTREZGENE
Human Proteome Map CXCR1 Human Proteome Map
InterPro Chemokine_CXCR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chemokine_CXCR_1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3577 UniProtKB/Swiss-Prot
NCBI Gene 3577 ENTREZGENE
OMIM 146929 OMIM
PANTHER C-X-C CHEMOKINE RECEPTOR TYPE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CELL ADHESION MOLECULE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29842 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTRLEUKIN8R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTRLEUKN8AR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R6Q3 ENTREZGENE
  B4DQ59 ENTREZGENE, UniProtKB/TrEMBL
  CXCR1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2YEF8 ENTREZGENE
  Q2YEG4 ENTREZGENE
  Q2YEG5 ENTREZGENE
  Q2YEG7 ENTREZGENE
  Q2YEG8 ENTREZGENE
  Q53R18 ENTREZGENE
  Q6IN95 ENTREZGENE
  Q8N6T6 ENTREZGENE
  Q9P2T8 ENTREZGENE
  Q9P2T9 ENTREZGENE
  Q9P2U0 ENTREZGENE
  Q9P2U1 ENTREZGENE
  Q9P2U2 ENTREZGENE
UniProt Secondary B2R6Q3 UniProtKB/Swiss-Prot
  Q2YEF8 UniProtKB/Swiss-Prot
  Q2YEG4 UniProtKB/Swiss-Prot
  Q2YEG5 UniProtKB/Swiss-Prot
  Q2YEG7 UniProtKB/Swiss-Prot
  Q2YEG8 UniProtKB/Swiss-Prot
  Q53R18 UniProtKB/Swiss-Prot
  Q6IN95 UniProtKB/Swiss-Prot
  Q8N6T6 UniProtKB/Swiss-Prot
  Q9P2T8 UniProtKB/Swiss-Prot
  Q9P2T9 UniProtKB/Swiss-Prot
  Q9P2U0 UniProtKB/Swiss-Prot
  Q9P2U1 UniProtKB/Swiss-Prot
  Q9P2U2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 CXCR1  C-X-C motif chemokine receptor 1  CXCR1  chemokine (C-X-C motif) receptor 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 CXCR1  chemokine (C-X-C motif) receptor 1  IL8RA  interleukin 8 receptor, alpha  Symbol and/or name change 5135510 APPROVED