C5AR1 (complement C5a receptor 1) - Rat Genome Database

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Gene: C5AR1 (complement C5a receptor 1) Homo sapiens
Analyze
Symbol: C5AR1
Name: complement C5a receptor 1
RGD ID: 1350810
HGNC Page HGNC
Description: Enables G protein-coupled receptor activity and complement component C5a receptor activity. Involved in several processes, including complement component C5a signaling pathway; mRNA transcription by RNA polymerase II; and positive regulation of ERK1 and ERK2 cascade. Located in apical part of cell and basolateral plasma membrane. Biomarker of Alzheimer's disease; asthma; chronic obstructive pulmonary disease; rhinitis; and severe acute respiratory syndrome; PARTICIPATES IN coagulation cascade pathway; complement system pathway; Staphylococcus aureus infection pathway; INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; 2-naphthylamine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C5A; C5a anaphylatoxin chemotactic receptor; C5a anaphylatoxin chemotactic receptor 1; C5a anaphylatoxin receptor; C5a ligand; C5a-R; C5AR; C5R1; CD88; complement component 5 receptor 1; complement component 5 receptor 1 (c5a ligand); complement component 5a receptor 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh38.p13 Ensembl1947,290,023 - 47,322,066 (+)EnsemblGRCh38hg38GRCh38
GRCh381947,309,861 - 47,322,066 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371947,813,118 - 47,825,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361952,504,944 - 52,517,167 (+)NCBINCBI36hg18NCBI36
Build 341952,504,970 - 52,517,172NCBI
Celera1944,616,992 - 44,629,218 (+)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1944,237,376 - 44,249,615 (+)NCBIHuRef
CHM1_11947,815,295 - 47,827,515 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-naphthylamine  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
aflatoxin B2  (EXP)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
fenbuconazole  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
indole-3-methanol  (ISO)
ionomycin  (ISO)
leflunomide  (EXP)
methapyrilene  (EXP)
methotrexate  (EXP)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nicotine  (EXP)
ozone  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pioglitazone  (ISO)
pravastatin  (ISO)
quercetin  (EXP)
resorcinol  (EXP)
silicon dioxide  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tris(2-chloroethyl) phosphate  (EXP)
urethane  (EXP)
XL147  (ISO)
zaragozic acid A  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Akatsu H, etal., Microbiol Immunol 1997;41(7):575-80.
2. Andersson CK, etal., Am J Respir Crit Care Med. 2010 Feb 1;181(3):206-17. Epub 2009 Nov 19.
3. Arumugam TV, etal., J Hepatol. 2004 Jun;40(6):934-41.
4. Bhatia M, etal., Am J Physiol Gastrointest Liver Physiol. 2001 May;280(5):G974-8.
5. Caspi E, etal., Am J Obstet Gynecol. 1971 Dec 15;111(8):1102-6.
6. Farkas I, etal., J Immunol. 2003 Jun 1;170(11):5764-71.
7. Flierl MA, etal., PLoS One. 2008 Jul 2;3(7):e2560.
8. Fregonese L, etal., J Allergy Clin Immunol. 2005 Jun;115(6):1148-54.
9. GOA_HUMAN data from the GO Consortium
10. Guo RF, etal., FASEB J. 2003 Oct;17(13):1889-91. Epub 2003 Aug 1.
11. Harkin DW, etal., J Vasc Surg. 2004 Jan;39(1):196-206.
12. Hillebrandt S, etal., Nat Genet. 2005 Aug;37(8):835-43. Epub 2005 Jul 3.
13. Jiang Y, etal., Viruses. 2019 Jan 9;11(1). pii: v11010039. doi: 10.3390/v11010039.
14. Jun SW, etal., J Allergy Clin Immunol. 2008 Jul;122(1):119-25. Epub 2008 Jun 5.
15. Kohl J, etal., J Clin Invest. 2006 Mar;116(3):783-96.
16. Kondo C, etal., Clin Exp Immunol. 2001 May;124(2):323-9.
17. Kong SL, etal., Virus Res. 2009 Nov;145(2):260-9. Epub 2009 Jul 25.
18. Lajoie S, etal., Nat Immunol. 2010 Oct;11(10):928-35. Epub 2010 Aug 29.
19. Lim J, etal., FASEB J. 2013 Feb;27(2):822-31. doi: 10.1096/fj.12-220582. Epub 2012 Nov 1.
20. Pipeline to import KEGG annotations from KEGG into RGD
21. Proctor LM, etal., Br J Pharmacol. 2004 Jun;142(4):756-64. Epub 2004 May 24.
22. Proctor LM, etal., Int Immunopharmacol. 2006 Aug;6(8):1224-32. Epub 2006 Apr 3.
23. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. RGD automated import pipeline for gene-chemical interactions
25. Short AJ, etal., Br J Pharmacol. 1999 Oct;128(3):511-4.
26. Sun S, etal., Am J Respir Cell Mol Biol. 2011 Mar 18.
27. Tschernig T, etal., Exp Toxicol Pathol. 2007 Aug;58(6):419-25. Epub 2007 Jun 1.
28. Woodruff TM, etal., J Immunol. 2008 Dec 15;181(12):8727-34.
Additional References at PubMed
PMID:1612600   PMID:1847994   PMID:2007135   PMID:2541200   PMID:7521884   PMID:7642584   PMID:7649993   PMID:7962171   PMID:8383526   PMID:8573284   PMID:8702752   PMID:8759762  
PMID:8779720   PMID:9553099   PMID:9590258   PMID:10352266   PMID:10571060   PMID:10597774   PMID:10963136   PMID:11342590   PMID:11705397   PMID:11733378   PMID:11773063   PMID:12091343  
PMID:12453150   PMID:12464600   PMID:12477932   PMID:12600272   PMID:12651630   PMID:12794141   PMID:14570896   PMID:15039137   PMID:15128829   PMID:15144465   PMID:15278436   PMID:15485893  
PMID:15489334   PMID:15550394   PMID:15768031   PMID:15944400   PMID:16301808   PMID:16341674   PMID:16778800   PMID:16879222   PMID:17023413   PMID:17068344   PMID:17090530   PMID:17135254  
PMID:17199736   PMID:17234193   PMID:17322907   PMID:17724165   PMID:17804836   PMID:18187666   PMID:18240029   PMID:18753257   PMID:18772131   PMID:19005416   PMID:19251703   PMID:19308263  
PMID:19324972   PMID:19333232   PMID:19344414   PMID:19423540   PMID:19464229   PMID:19657723   PMID:19789190   PMID:19864971   PMID:20044484   PMID:20406964   PMID:20438785   PMID:20473571  
PMID:20484595   PMID:20500690   PMID:21292772   PMID:21613290   PMID:21628869   PMID:21873635   PMID:22187344   PMID:22244896   PMID:22441801   PMID:22496247   PMID:22608366   PMID:22960554  
PMID:23041570   PMID:23268185   PMID:23287562   PMID:23346183   PMID:23394121   PMID:23402022   PMID:23479227   PMID:23684309   PMID:23706417   PMID:23874603   PMID:24043889   PMID:24134522  
PMID:24192237   PMID:24265019   PMID:24327134   PMID:24446515   PMID:24523571   PMID:24922578   PMID:25008200   PMID:25174320   PMID:25241761   PMID:25455139   PMID:25544179   PMID:25582053  
PMID:25682807   PMID:25726869   PMID:25924896   PMID:26059553   PMID:26084468   PMID:26176669   PMID:26475622   PMID:26494574   PMID:26537334   PMID:27539194   PMID:27606963   PMID:27688239  
PMID:27721145   PMID:27756879   PMID:27821813   PMID:28117704   PMID:28228558   PMID:28237029   PMID:28323848   PMID:28576324   PMID:28620195   PMID:28733463   PMID:29031586   PMID:29138505  
PMID:29300009   PMID:29551360   PMID:29685955   PMID:29765378   PMID:30192927   PMID:30258440   PMID:30612786   PMID:30953275   PMID:31036565   PMID:31102985   PMID:31270150   PMID:32085887  
PMID:32669478   PMID:33023856   PMID:33446393   PMID:33852936   PMID:33936074  


Genomics

Comparative Map Data
C5AR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1947,290,023 - 47,322,066 (+)EnsemblGRCh38hg38GRCh38
GRCh381947,309,861 - 47,322,066 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371947,813,118 - 47,825,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361952,504,944 - 52,517,167 (+)NCBINCBI36hg18NCBI36
Build 341952,504,970 - 52,517,172NCBI
Celera1944,616,992 - 44,629,218 (+)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1944,237,376 - 44,249,615 (+)NCBIHuRef
CHM1_11947,815,295 - 47,827,515 (+)NCBICHM1_1
C5ar1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39715,980,668 - 15,993,465 (-)NCBIGRCm39mm39
GRCm39 Ensembl715,980,668 - 15,993,465 (-)Ensembl
GRCm38716,246,743 - 16,259,540 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl716,246,743 - 16,259,540 (-)EnsemblGRCm38mm10GRCm38
MGSCv37716,832,092 - 16,844,889 (-)NCBIGRCm37mm9NCBIm37
MGSCv36715,405,265 - 15,417,773 (-)NCBImm8
Celera713,440,651 - 13,453,692 (-)NCBICelera
Cytogenetic Map7A2NCBI
cM Map78.77NCBI
C5ar1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2176,948,622 - 76,959,826 (-)NCBImRatBN7.2
Rnor_6.0178,186,777 - 78,195,132 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl178,186,776 - 78,195,328 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0179,452,051 - 79,458,856 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera171,439,044 - 71,449,243 (-)NCBICelera
Cytogenetic Map1q21NCBI
C5ar1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555741,221,187 - 1,231,655 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555741,221,942 - 1,229,634 (+)NCBIChiLan1.0ChiLan1.0
C5AR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11952,950,317 - 52,966,146 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1952,950,317 - 52,966,146 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01944,293,612 - 44,310,430 (+)NCBIMhudiblu_PPA_v0panPan3
C5AR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11108,659,637 - 108,704,217 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1108,659,637 - 108,675,401 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1108,141,196 - 108,156,800 (-)NCBI
ROS_Cfam_1.01109,185,920 - 109,201,726 (-)NCBI
UMICH_Zoey_3.11108,852,877 - 108,868,613 (-)NCBI
UNSW_CanFamBas_1.01108,497,215 - 108,512,964 (-)NCBI
UU_Cfam_GSD_1.01109,365,784 - 109,381,523 (-)NCBI
C5ar1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934919,408,006 - 19,415,325 (+)NCBI
SpeTri2.0NW_0049366641,026,216 - 1,033,438 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C5AR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl653,097,164 - 53,117,020 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1653,097,162 - 53,111,563 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2648,523,114 - 48,537,524 (+)NCBISscrofa10.2Sscrofa10.2susScr3
C5AR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1640,633,540 - 40,651,839 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl640,633,448 - 40,652,845 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607320,348,637 - 20,386,343 (+)NCBIVero_WHO_p1.0
C5ar1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248326,413,169 - 6,423,394 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
GDB:185765  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera1944,626,926 - 44,627,988RGD
Cytogenetic Map19q13.3-q13.4UniSTS
HuRef1944,247,324 - 44,248,386UniSTS
C5R1_STS1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371947,824,025 - 47,824,833UniSTSGRCh37
Build 361952,515,865 - 52,516,673RGDNCBI36
Celera1944,627,916 - 44,628,724RGD
Cytogenetic Map19q13.3-q13.4UniSTS
HuRef1944,248,314 - 44,249,121UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1158
Count of miRNA genes:769
Interacting mature miRNAs:879
Transcripts:ENST00000355085, ENST00000594787, ENST00000595501
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.


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 pharyngeal arch
High 22 22
Medium 808 2018 714 200 1165 169 1635 271 1077 146 402 794 34 1 978 1082 2
Low 1586 925 1005 418 667 289 2443 1737 2319 256 1023 758 137 226 1562 3 2
Below cutoff 43 26 7 6 88 7 269 188 336 17 32 60 3 144 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000355085   ⟹   ENSP00000347197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1947,309,861 - 47,322,066 (+)Ensembl
RefSeq Acc Id: ENST00000594787   ⟹   ENSP00000470613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1947,297,075 - 47,320,186 (+)Ensembl
RefSeq Acc Id: ENST00000595501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1947,290,023 - 47,307,754 (+)Ensembl
RefSeq Acc Id: NM_001736   ⟹   NP_001727
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381947,309,861 - 47,322,066 (+)NCBI
GRCh371947,813,104 - 47,825,327 (+)ENTREZGENE
Build 361952,504,944 - 52,517,167 (+)NCBI Archive
HuRef1944,237,376 - 44,249,615 (+)ENTREZGENE
CHM1_11947,815,295 - 47,827,515 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005259190   ⟹   XP_005259247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381947,316,565 - 47,322,024 (+)NCBI
GRCh371947,813,104 - 47,825,327 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001727   ⟸   NM_001736
- Sequence:
RefSeq Acc Id: XP_005259247   ⟸   XM_005259190
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000470613   ⟸   ENST00000594787
RefSeq Acc Id: ENSP00000347197   ⟸   ENST00000355085

Promoters
RGD ID:13204884
Promoter ID:EPDNEW_H26025
Type:initiation region
Name:C5AR1_1
Description:complement C5a 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
GRCh381947,309,861 - 47,309,921EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1 copy number loss See cases [RCV000053976] Chr19:46458122..47683579 [GRCh38]
Chr19:46961379..48186836 [GRCh37]
Chr19:51653219..52878648 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
NM_001736.3(C5AR1):c.703A>C (p.Thr235Pro) single nucleotide variant Malignant melanoma [RCV000072222] Chr19:47320480 [GRCh38]
Chr19:47823737 [GRCh37]
Chr19:52515577 [NCBI36]
Chr19:19q13.32
not provided
NM_001736.3(C5AR1):c.980C>T (p.Ser327Phe) single nucleotide variant Malignant melanoma [RCV000072223] Chr19:47320757 [GRCh38]
Chr19:47824014 [GRCh37]
Chr19:52515854 [NCBI36]
Chr19:19q13.32
not provided
NM_001736.3(C5AR1):c.990G>A (p.Arg330=) single nucleotide variant Malignant melanoma [RCV000063583] Chr19:47320767 [GRCh38]
Chr19:47824024 [GRCh37]
Chr19:52515864 [NCBI36]
Chr19:19q13.32
not provided
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3 copy number gain See cases [RCV000138849] Chr19:47253630..47744714 [GRCh38]
Chr19:47756887..48247971 [GRCh37]
Chr19:52448727..52939783 [NCBI36]
Chr19:19q13.32-13.33
likely benign
GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3 copy number gain not provided [RCV000585171] Chr19:47228251..47867279 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32(chr19:47567615-47856225)x3 copy number gain See cases [RCV000447005] Chr19:47567615..47856225 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32(chr19:47450549-47880338)x3 copy number gain See cases [RCV000447405] Chr19:47450549..47880338 [GRCh37]
Chr19:19q13.32
likely pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1 copy number loss See cases [RCV000511362] Chr19:46404248..48488721 [GRCh37]
Chr19:19q13.32-13.33
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001736.4(C5AR1):c.4= (p.Asp2=) variation not provided [RCV000947977] Chr19:47319781 [GRCh38]
Chr19:47823038 [GRCh37]
Chr19:19q13.32
benign
NM_001736.4(C5AR1):c.837= (p.Lys279=) variation not provided [RCV000947978] Chr19:47320614 [GRCh38]
Chr19:47823871 [GRCh37]
Chr19:19q13.32
benign
GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536) copy number gain not provided [RCV000767770] Chr19:47036361..48525536 [GRCh37]
Chr19:19q13.32-13.33
pathogenic
NM_001736.4(C5AR1):c.537G>A (p.Glu179=) single nucleotide variant not provided [RCV000921114] Chr19:47320314 [GRCh38]
Chr19:47823571 [GRCh37]
Chr19:19q13.32
likely benign
GRCh37/hg19 19q13.32-13.33(chr19:47785567-48178258)x3 copy number gain not provided [RCV000848975] Chr19:47785567..48178258 [GRCh37]
Chr19:19q13.32-13.33
uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
NM_001736.4(C5AR1):c.657G>A (p.Thr219=) single nucleotide variant not provided [RCV000891854] Chr19:47320434 [GRCh38]
Chr19:47823691 [GRCh37]
Chr19:19q13.32
likely benign
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3 copy number gain not provided [RCV001007051] Chr19:45531056..48174177 [GRCh37]
Chr19:19q13.32-13.33
uncertain significance
NM_001736.4(C5AR1):c.615C>G (p.Val205=) single nucleotide variant not provided [RCV000949427] Chr19:47320392 [GRCh38]
Chr19:47823649 [GRCh37]
Chr19:19q13.32
benign
NM_001736.4(C5AR1):c.450= (p.Ala150=) variation not provided [RCV000950015] Chr19:47320227 [GRCh38]
Chr19:47823484 [GRCh37]
Chr19:19q13.32
benign
GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3 copy number gain not provided [RCV001007053] Chr19:47331662..48234260 [GRCh37]
Chr19:19q13.32-13.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1338 AgrOrtholog
COSMIC C5AR1 COSMIC
Ensembl Genes ENSG00000197405 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000347197 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000470613 UniProtKB/TrEMBL
Ensembl Transcript ENST00000355085 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000594787 UniProtKB/TrEMBL
GTEx ENSG00000197405 GTEx
HGNC ID HGNC:1338 ENTREZGENE
Human Proteome Map C5AR1 Human Proteome Map
InterPro Anaphtx_C5AR1/C5AR2 UniProtKB/Swiss-Prot
  Anphylx_rcpt UniProtKB/Swiss-Prot
  Formyl_rcpt-rel UniProtKB/Swiss-Prot
  GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
KEGG Report hsa:728 UniProtKB/Swiss-Prot
NCBI Gene 728 ENTREZGENE
OMIM 113995 OMIM
PANTHER PTHR24225 UniProtKB/Swiss-Prot
Pfam 7tm_1 UniProtKB/Swiss-Prot
PharmGKB PA25920 PharmGKB
PRINTS ANPHYLATOXNR UniProtKB/Swiss-Prot
  C5ANPHYLTXNR UniProtKB/Swiss-Prot
  GPCRRHODOPSN UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
UniProt C5AR1_HUMAN UniProtKB/Swiss-Prot
  M0QZK7_HUMAN UniProtKB/TrEMBL
  P21730 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-16 C5AR1  complement C5a receptor 1    complement component 5a receptor 1  Symbol and/or name change 5135510 APPROVED