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Aliases for C5 Gene

Aliases for C5 Gene

  • Complement C5 2 3 5
  • C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 4 3 4
  • Complement Component 5 2 3
  • C5a Anaphylatoxin 2 3
  • Prepro-C5 2 3
  • CPAMD4 3 4
  • Anaphylatoxin C5a Analog 3
  • ECLZB 3
  • C5D 3
  • C5a 3
  • C5b 3

External Ids for C5 Gene

Previous GeneCards Identifiers for C5 Gene

  • GC09M114819
  • GC09M115361
  • GC09M117168
  • GC09M119090
  • GC09M120794
  • GC09M122754
  • GC09M123714
  • GC09M093332

Summaries for C5 Gene

Entrez Gene Summary for C5 Gene

  • This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

GeneCards Summary for C5 Gene

C5 (Complement C5) is a Protein Coding gene. Diseases associated with C5 include C5 Deficiency and Immunodeficiency Due To A Late Component Of Complement Deficiency. Among its related pathways are Peptide ligand-binding receptors and Complement Pathway. GO annotations related to this gene include receptor binding and endopeptidase inhibitor activity. An important paralog of this gene is C3.

UniProtKB/Swiss-Prot for C5 Gene

  • Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement components, C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex is the foundation upon which the lytic complex is assembled.

  • Derived from proteolytic degradation of complement C5, C5 anaphylatoxin is a mediator of local inflammatory process. Binding to the receptor C5AR1 induces a variety of responses including intracellular calcium release, contraction of smooth muscle, increased vascular permeability, and histamine release from mast cells and basophilic leukocytes (PubMed:8182049). C5a is also a potent chemokine which stimulates the locomotion of polymorphonuclear leukocytes and directs their migration toward sites of inflammation.

Gene Wiki entry for C5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C5 Gene

Genomics for C5 Gene

Regulatory Elements for C5 Gene

Enhancers for C5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G121070 1.5 FANTOM5 ENCODE 20.3 +1.4 1354 5.3 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 C5 PSMD5-AS1 TRAF1 CNTRL
GH09G121192 1.6 Ensembl ENCODE dbSUPER 18.6 -122.7 -122679 10.2 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF207 PSMD5-AS1 C5 PSMD5 ENSG00000239593 GSN-AS1 LOC102723324 STOM GGTA1P TRAF1 DAB2IP
GH09G121176 1.2 ENCODE dbSUPER 18.4 -103.0 -103021 3.3 HDGF PKNOX1 FOXA2 ZNF143 JUNB PPARG TBX21 MIER3 MAFF NBN C5 PSMD5-AS1 GSN LOC102723324 STOM DAB2IP PIR40575
GH09G121275 2 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -207.9 -207881 15.3 MLX CREB3L1 ZFP64 DMAP1 SLC30A9 ZNF143 ZNF263 SP3 MEF2D SSRP1 GSN GGTA1P C5 STOM LOC102723324 PSMD5-AS1 ENSG00000239593 GSN-AS1
GH09G121182 1.1 ENCODE dbSUPER 18.8 -109.7 -109736 3.4 ELF3 FOXA2 ZSCAN4 RARA CREM ZEB2 PPARG MIER3 CEBPA ZNF341 C5 GSN PSMD5-AS1 LOC102723324 STOM GGTA1P PIR40575
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C5 on UCSC Golden Path with GeneCards custom track

Promoters for C5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000240839 -75 1601 HDGF PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for C5 Gene

Chromosome:
9
Start:
120,952,335 bp from pter
End:
121,074,925 bp from pter
Size:
122,591 bases
Orientation:
Minus strand

Genomic View for C5 Gene

Genes around C5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C5 Gene

Proteins for C5 Gene

  • Protein details for C5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01031-CO5_HUMAN
    Recommended name:
    Complement C5
    Protein Accession:
    P01031
    Secondary Accessions:
    • Q14CJ0
    • Q27I61

    Protein attributes for C5 Gene

    Size:
    1676 amino acids
    Molecular mass:
    188305 Da
    Quaternary structure:
    • C5 precursor is first processed by the removal of 4 basic residues, forming two chains, beta and alpha, linked by a disulfide bond. C5 convertase activates C5 by cleaving the alpha chain, releasing C5a anaphylatoxin and generating C5b (beta chain + alpha chain). The C5a anaphylatoxin interacts with C5AR1. Interacts with tick complement inhibitor.

    Three dimensional structures from OCA and Proteopedia for C5 Gene

neXtProt entry for C5 Gene

Post-translational modifications for C5 Gene

  • Glycosylation at Asn741, Asn911, Asn1115, and Asn1630
  • Modification sites at PhosphoSitePlus

Other Protein References for C5 Gene

Antibody Products

  • R&D Systems Antibodies for C5 (Complement Component C5/C5a)
  • R&D Systems Antibodies for C5 (Complement Component C5a)

No data available for DME Specific Peptides for C5 Gene

Domains & Families for C5 Gene

Suggested Antigen Peptide Sequences for C5 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C5: view

No data available for UniProtKB/Swiss-Prot for C5 Gene

Function for C5 Gene

Molecular function for C5 Gene

GENATLAS Biochemistry:
complement component 5,glycoprotein,180kDa,initiating after activation the assembly of the late complement components C5-C9,into the membrane attack complex
UniProtKB/Swiss-Prot Function:
Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement components, C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex is the foundation upon which the lytic complex is assembled.
UniProtKB/Swiss-Prot Function:
Derived from proteolytic degradation of complement C5, C5 anaphylatoxin is a mediator of local inflammatory process. Binding to the receptor C5AR1 induces a variety of responses including intracellular calcium release, contraction of smooth muscle, increased vascular permeability, and histamine release from mast cells and basophilic leukocytes (PubMed:8182049). C5a is also a potent chemokine which stimulates the locomotion of polymorphonuclear leukocytes and directs their migration toward sites of inflammation.

Gene Ontology (GO) - Molecular Function for C5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity IEA --
GO:0005102 receptor binding TAS 9590258
GO:0005515 protein binding IPI 21217642
GO:0008009 chemokine activity TAS 10820279
genes like me logo Genes that share ontologies with C5: view
genes like me logo Genes that share phenotypes with C5: view

Human Phenotype Ontology for C5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for C5 Gene

MGI Knock Outs for C5:
  • Hc tm1b(EUCOMM)Wtsi

Animal Model Products

miRNA for C5 Gene

miRTarBase miRNAs that target C5

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for C5 Gene

Localization for C5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C5 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C5 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for C5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005579 membrane attack complex IEA,IDA 22832194
GO:0005615 extracellular space TAS,IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with C5: view

Pathways & Interactions for C5 Gene

genes like me logo Genes that share pathways with C5: view

SIGNOR curated interactions for C5 Gene

Activates:

Gene Ontology (GO) - Biological Process for C5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity TAS 7649993
GO:0001701 in utero embryonic development IEA --
GO:0002376 immune system process IEA --
GO:0006935 chemotaxis TAS 10820279
GO:0006950 response to stress TAS 9590258
genes like me logo Genes that share ontologies with C5: view

Drugs & Compounds for C5 Gene

(4) Drugs for C5 Gene - From: DrugBank, PharmGKB, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Eculizumab Approved, Investigational Pharma antibody, Target 0
Immune Globulin Human Approved, Investigational Pharma Target, binder 0
ARC1905 Pharma 0

(2) Additional Compounds for C5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with C5: view

Transcripts for C5 Gene

Unigene Clusters for C5 Gene

Complement component 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C5 Gene

No ASD Table

Relevant External Links for C5 Gene

GeneLoc Exon Structure for
C5
ECgene alternative splicing isoforms for
C5

Expression for C5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C5 Gene

mRNA differential expression in normal tissues according to GTEx for C5 Gene

This gene is overexpressed in Liver (x33.4).

Protein differential expression in normal tissues from HIPED for C5 Gene

This gene is overexpressed in Serum (30.1), Plasma (15.2), and Synovial fluid (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C5 Gene



Protein tissue co-expression partners for C5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C5 Gene:

C5

SOURCE GeneReport for Unigene cluster for C5 Gene:

Hs.494997

Evidence on tissue expression from TISSUES for C5 Gene

  • Bone marrow(4)
  • Liver(3.9)
  • Kidney(2.7)
  • Gall bladder(2.5)
  • Adrenal gland(2.4)
  • Intestine(2.2)
  • Blood(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • mouth
  • neck
  • pharynx
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • prostate
  • rectum
  • testicle
  • urethra
  • vagina
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • lymph node
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with C5: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for C5 Gene

Orthologs for C5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C5 34 35
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia C5 34 35
  • 85.14 (n)
mouse
(Mus musculus)
Mammalia Hc 34 16 35
  • 81.13 (n)
dog
(Canis familiaris)
Mammalia C5 34 35
  • 79.87 (n)
oppossum
(Monodelphis domestica)
Mammalia C5 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C5 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves C5 34 35
  • 63.65 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia c5 34
  • 55.34 (n)
zebrafish
(Danio rerio)
Actinopterygii c5 34 35
  • 51.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
ManyToMany
CSA.4097 35
  • 20 (a)
ManyToMany
Species where no ortholog for C5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C5 Gene

ENSEMBL:
Gene Tree for C5 (if available)
TreeFam:
Gene Tree for C5 (if available)

Paralogs for C5 Gene

Paralogs for C5 Gene

(1) SIMAP similar genes for C5 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with C5: view

Variants for C5 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for C5 Gene

CO5_HUMAN-P01031
C5 variants are responsible for poor response to eculizumab [MIM:615749]. Eculizumab is a monoclonal antibody highly effective in reducing intravascular hemolysis in patients with paroxysmal nocturnal hemoglobinuria. It specifically binds to the terminal complement protein C5, inhibits its cleavage into C5a and C5b, and prevents the formations of the cytolytic complement pore (PubMed:24521109).

Sequence variations from dbSNP and Humsavar for C5 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs121909587 Pathogenic 121,050,192(-) GGGGA(C/T)AGGAG intron-variant, reference, stop-gained
rs121909588 Pathogenic 120,962,749(-) GTGTA(C/T)GATTC reference, stop-gained
rs387906554 Pathogenic 120,953,758(-) GAAGC(CC/G)TCCAG reference, frameshift-variant
rs587776846 Pathogenic 121,023,405(+) CTACC(C/T)TGATG reference, missense
rs193920993 Uncertain significance 120,982,759(-) AGCAG(A/G)ACCAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for C5 Gene

Variant ID Type Subtype PubMed ID
esv2759713 CNV loss 17122850
esv3573378 CNV loss 25503493
nsv507529 OTHER sequence alteration 20534489

Variation tolerance for C5 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.54; 97.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C5 Gene

Human Gene Mutation Database (HGMD)
C5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C5

Disorders for C5 Gene

MalaCards: The human disease database

(10) MalaCards diseases for C5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
c5 deficiency
  • complement component 5 deficiency
immunodeficiency due to a late component of complement deficiency
  • deficiency of complement of terminal pathway
hemoglobinuria
complement deficiency
  • complement deficiency disease
dense deposit disease
  • ddd
- elite association - COSMIC cancer census association via MalaCards
Search C5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CO5_HUMAN
  • Complement component 5 deficiency (C5D) [MIM:609536]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=An association study of C5 haplotypes and genotypes in individuals with chronic hepatitis C virus infection shows that individuals homozygous for the C5_1 haplotype have a significantly higher stage of liver fibrosis than individuals carrying at least 1 other allele. {ECO:0000269 PubMed:15995705}.

Genatlas disease for C5 Gene

neisserial recurrent infections,lupus systemic syndrome

Relevant External Links for C5

Genetic Association Database (GAD)
C5
Human Genome Epidemiology (HuGE) Navigator
C5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C5
genes like me logo Genes that share disorders with C5: view

Publications for C5 Gene

  1. Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma. (PMID: 15278436) Hasegawa K. … Suzuki Y. (Hum. Genet. 2004) 3 22 46 64
  2. Genetic variants in C5 and poor response to eculizumab. (PMID: 24521109) Nishimura J. … Kanakura Y. (N. Engl. J. Med. 2014) 3 4 64
  3. Endometriosis and autoimmune disease: association of susceptibility to moderate/severe endometriosis with CCL21 and HLA-DRB1. (PMID: 20797713) Sundqvist J. … D'Hooghe T.M. (Fertil. Steril. 2011) 3 46 64
  4. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PMID: 20962850) Budarf M.L. … Rioux J.D. (Genes Immun. 2011) 3 46 64
  5. Substrate recognition by complement convertases revealed in the C5- cobra venom factor complex. (PMID: 21217642) Laursen N.S. … Andersen G.R. (EMBO J. 2011) 3 4 64

Products for C5 Gene

Sources for C5 Gene

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