GeneBe

C5AR1

protein-coding

complement C5a receptor 1, the group of Complement component GPCRs|Complement system regulators and receptors|CD molecules

Gene summary

Enables G protein-coupled receptor activity and complement component C5a receptor activity. Involved in several processes, including G protein-coupled receptor 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. Is active in plasma membrane. Biomarker of Alzheimer's disease; asthma; chronic obstructive pulmonary disease; rhinitis; and severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:
  • C5R1

MANE transcript

NM_001736.4

Inheritance

—

ClinVar variants

U:60B:24

Top phenotype

C5AR1-related disorder

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr19:47,290,023-47,322,066

External References & Databases

Ensembl (ENSG00000197405)NCBI Gene (728)OMIM (113995)HGNC:1338GenCCUniProt (P21730)AlphaFoldClinVar (C5AR1)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~32.0 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to C5AR1 variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 79
C5AR1-related disorderTotal: 8
not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001736.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
19
clinvar
 20
missense
58
clinvar
5
clinvar
 63
nonsense
0
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
0
Total006024084
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001736.4RefSeqNP_001727.22MANE Select
ENST00000355085.4EnsemblENSP00000347197.22MANE Select
ENST00000594787.1EnsemblENSP00000470613.11Standard
ENST00001041457.1EnsemblENSP00000711274.13Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Complement and coagulation cascades - Homo sapiens (human)
  • Staphylococcus aureus infection - Homo sapiens (human)
  • Neuroactive ligand-receptor interaction - Homo sapiens (human)
  • Peptide GPCRs
  • Human Complement System

Biological Process

  • activation of MAPK activity
  • complement receptor mediated signaling pathway
  • apoptotic process
  • chemotaxis
  • inflammatory response

Molecular Function

  • complement component C5a binding
  • complement component C5a receptor activity
  • G protein-coupled receptor activity

Cellular Component

  • plasma membrane
  • integral component of plasma membrane
  • cell surface
  • basolateral plasma membrane
  • secretory granule membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000355085
Coding exons
2
Length
32044
Individuals with no LoFs
0
Homozygous LoFs
0
Heterozygous LoFs
0
Defined
0
p
0.00
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.1582112180.9700.00001502235
Missense (PolyPhen)8186.8970.93213921
Synonymous-0.6701091001.080.00000693792
Loss of Function0.96401.080.004.60e-812

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)00.0absent
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a (PubMed:1847994, PubMed:8182049, PubMed:7622471, PubMed:9553099, PubMed:10636859, PubMed:15153520, PubMed:29300009). The ligand interacts with at least two sites on the receptor: a high-affinity site on the extracellular N- terminus, and a second site in the transmembrane region which activates downstream signaling events (PubMed:8182049, PubMed:7622471, PubMed:9553099). Receptor activation stimulates chemotaxis, granule enzyme release, intracellular calcium release and superoxide anion production (PubMed:10636859, PubMed:15153520). {ECO:0000269|PubMed:10636859, ECO:0000269|PubMed:15153520, ECO:0000269|PubMed:1847994, ECO:0000269|PubMed:29300009, ECO:0000269|PubMed:7622471, ECO:0000269|PubMed:8182049, ECO:0000269|PubMed:9553099}.;

Recessive Scores

pRec
0.466

Intolerance Scores

LoFtool
0.650
RVIS EVS
-0.6
RVIS percentile EVS
18.14

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.715

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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