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Gene id

727

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

C5 Gene UCSC Ensembl

Aliases

C5D, C5a, C5b, CPAMD4, ECLZB

Gene name

complement C5

Alternate names

complement C5, C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4, C5a anaphylatoxin, anaphylatoxin C5a analog, complement component 5, prepro-C5,

Gene location

9q33.2 (121075173: 120952334) Exons: 47 NC_000009.12

Gene summary(Entrez)

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]

OMIM

120900

Protein Summary

Protein general information

P01031

Name: Complement C5 (C3 and PZP like alpha 2 macroglobulin domain containing protein 4) [Cleaved into: Complement C5 beta chain; Complement C5 alpha chain; C5a anaphylatoxin; Complement C5 alpha' chain]

Length: 1676 Mass: 188,305

Sequence

MGLLGILCFLIFLGKTWGQEQTYVISAPKIFRVGASENIVIQVYGYTEAFDATISIKSYPDKKFSYSSGHVHLSS
ENKFQNSAILTIQPKQLPGGQNPVSYVYLEVVSKHFSKSKRMPITYDNGFLFIHTDKPVYTPDQSVKVRVYSLND
DLKPAKRETVLTFIDPEGSEVDMVEEIDHIGIISFPDFKIPSNPRYGMWTIKAKYKEDFSTTGTAYFEVKEYVLP
HFSVSIEPEYNFIGYKNFKNFEITIKARYFYNKVVTEADVYITFGIREDLKDDQKEMMQTAMQNTMLINGIAQVT
FDSETAVKELSYYSLEDLNNKYLYIAVTVIESTGGFSEEAEIPGIKYVLSPYKLNLVATPLFLKPGIPYPIKVQV
KDSLDQLVGGVPVTLNAQTIDVNQETSDLDPSKSVTRVDDGVASFVLNLPSGVTVLEFNVKTDAPDLPEENQARE
GYRAIAYSSLSQSYLYIDWTDNHKALLVGEHLNIIVTPKSPYIDKITHYNYLILSKGKIIHFGTREKFSDASYQS
INIPVTQNMVPSSRLLVYYIVTGEQTAELVSDSVWLNIEEKCGNQLQVHLSPDADAYSPGQTVSLNMATGMDSWV
ALAAVDSAVYGVQRGAKKPLERVFQFLEKSDLGCGAGGGLNNANVFHLAGLTFLTNANADDSQENDEPCKEILRP
RRTLQKKIEEIAAKYKHSVVKKCCYDGACVNNDETCEQRAARISLGPRCIKAFTECCVVASQLRANISHKDMQLG
RLHMKTLLPVSKPEIRSYFPESWLWEVHLVPRRKQLQFALPDSLTTWEIQGVGISNTGICVADTVKAKVFKDVFL
EMNIPYSVVRGEQIQLKGTVYNYRTSGMQFCVKMSAVEGICTSESPVIDHQGTKSSKCVRQKVEGSSSHLVTFTV
LPLEIGLHNINFSLETWFGKEILVKTLRVVPEGVKRESYSGVTLDPRGIYGTISRRKEFPYRIPLDLVPKTEIKR
ILSVKGLLVGEILSAVLSQEGINILTHLPKGSAEAELMSVVPVFYVFHYLETGNHWNIFHSDPLIEKQKLKKKLK
EGMLSIMSYRNADYSYSVWKGGSASTWLTAFALRVLGQVNKYVEQNQNSICNSLLWLVENYQLDNGSFKENSQYQ
PIKLQGTLPVEARENSLYLTAFTVIGIRKAFDICPLVKIDTALIKADNFLLENTLPAQSTFTLAISAYALSLGDK
THPQFRSIVSALKREALVKGNPPIYRFWKDNLQHKDSSVPNTGTARMVETTAYALLTSLNLKDINYVNPVIKWLS
EEQRYGGGFYSTQDTINAIEGLTEYSLLVKQLRLSMDIDVSYKHKGALHNYKMTDKNFLGRPVEVLLNDDLIVST
GFGSGLATVHVTTVVHKTSTSEEVCSFYLKIDTQDIEASHYRGYGNSDYKRIVACASYKPSREESSSGSSHAVMD
ISLPTGISANEEDLKALVEGVDQLFTDYQIKDGHVILQLNSIPSSDFLCVRFRIFELFEVGFLSPATFTVYEYHR
PDKQCTMFYSTSNIKIQKVCEGAACKCVEADCGQMQEELDLTISAETRKQTACKPEIAYAYKVSITSITVENVFV
KYKATLLDIYKTGEAVAEKDSEITFIKKVTCTNAELVKGRQYLIMGKEALQIKYNFSFRYIYPLDSLTWIEYWPR
DTTCSSCQAFLANLDEFAEDIFLNGC

Structural information

Protein Domains	Anaphylatoxin-like. (698-732) NTR. (1532-1676)
Interpro:	IPR009048 IPR011626 IPR002890 IPR011625 IPR000020 IPR018081 IPR001840 IPR013783 IPR001599 IPR001134 IPR018933 IPR008930 IPR008993
Prosite:	PS01177 PS01178 PS50189
Pfam:	PF00207 PF07678 PF01835 PF07703 PF07677 PF01821 PF01759
PDB:	1CFA 1KJS 1XWE 3CU7 3HQA 3HQB 3KLS 3KM9 3PRX 3PVM 4A5W 4E0S 4P39 4UU9 5HCC 5HCD 5HCE 5I5K
PDBsum:	1CFA 1KJS 1XWE 3CU7 3HQA 3HQB 3KLS 3KM9 3PRX 3PVM 4A5W 4E0S 4P39 4UU9 5HCC 5HCD 5HCE 5I5K
STRING:	ENSP00000223642;

Other Databases

GeneCards: C5; Malacards: C5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000187	activation of MAPK activi ty	TAS	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0004866	endopeptidase inhibitor a ctivity	IEA	molecular_function
GO:0005102	receptor binding	TAS	molecular_function
GO:0005102	receptor binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005579	membrane attack complex	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0006935	chemotaxis	TAS	biological_process
GO:0006950	response to stress	TAS	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0006956	complement activation	TAS	biological_process
GO:0006957	complement activation, al ternative pathway	IEA	biological_process
GO:0006958	complement activation, cl assical pathway	IEA	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	TAS	biological_process
GO:0008009	chemokine activity	TAS	molecular_function
GO:0010575	positive regulation of va scular endothelial growth factor production	IDA	biological_process
GO:0010575	positive regulation of va scular endothelial growth factor production	IDA	biological_process
GO:0010760	negative regulation of ma crophage chemotaxis	IDA	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IEA	biological_process
GO:0019835	cytolysis	IEA	biological_process
GO:0030449	regulation of complement activation	TAS	biological_process
GO:0045766	positive regulation of an giogenesis	IEA	biological_process
GO:0060326	cell chemotaxis	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0090197	positive regulation of ch emokine secretion	IDA	biological_process
GO:0098779	mitophagy in response to mitochondrial depolarizat ion	IGI	biological_process
GO:0000187	activation of MAPK activi ty	TAS	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0002376	immune system process	IEA	biological_process
GO:0004866	endopeptidase inhibitor a ctivity	IEA	molecular_function
GO:0005102	receptor binding	TAS	molecular_function
GO:0005102	receptor binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005579	membrane attack complex	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0006935	chemotaxis	TAS	biological_process
GO:0006950	response to stress	TAS	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0006954	inflammatory response	TAS	biological_process
GO:0006956	complement activation	IEA	biological_process
GO:0006956	complement activation	TAS	biological_process
GO:0006957	complement activation, al ternative pathway	IEA	biological_process
GO:0006958	complement activation, cl assical pathway	IEA	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	TAS	biological_process
GO:0008009	chemokine activity	TAS	molecular_function
GO:0010575	positive regulation of va scular endothelial growth factor production	IDA	biological_process
GO:0010575	positive regulation of va scular endothelial growth factor production	IDA	biological_process
GO:0010760	negative regulation of ma crophage chemotaxis	IDA	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IEA	biological_process
GO:0019835	cytolysis	IEA	biological_process
GO:0030449	regulation of complement activation	TAS	biological_process
GO:0045087	innate immune response	IEA	biological_process
GO:0045766	positive regulation of an giogenesis	IEA	biological_process
GO:0060326	cell chemotaxis	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0090197	positive regulation of ch emokine secretion	IDA	biological_process
GO:0098779	mitophagy in response to mitochondrial depolarizat ion	IGI	biological_process
GO:0000187	activation of MAPK activi ty	TAS	biological_process
GO:0005102	receptor binding	TAS	molecular_function
GO:0005102	receptor binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0006935	chemotaxis	TAS	biological_process
GO:0006950	response to stress	TAS	biological_process
GO:0006954	inflammatory response	TAS	biological_process
GO:0006956	complement activation	TAS	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	TAS	biological_process
GO:0008009	chemokine activity	TAS	molecular_function
GO:0010575	positive regulation of va scular endothelial growth factor production	IDA	biological_process
GO:0010575	positive regulation of va scular endothelial growth factor production	IDA	biological_process
GO:0010760	negative regulation of ma crophage chemotaxis	IDA	biological_process
GO:0030449	regulation of complement activation	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0090197	positive regulation of ch emokine secretion	IDA	biological_process
GO:0098779	mitophagy in response to mitochondrial depolarizat ion	IGI	biological_process

KEGG pathways

hsa05168  Herpes simplex infection
hsa05133  Pertussis
hsa04610  Complement and coagulation cascades
hsa05322  Systemic lupus erythematosus
hsa05150  Staphylococcus aureus infection
hsa05020  Prion diseases

Diseases

Associated diseases	References
Asthma	PMID: 15278436
C5 deficiency	OMIM: 120900
Endometriosis	PMID: 24316322
Female infertility	PMID: 24316322
Macular degeneration	PMID: 17634448
Rheumatoid arthritis	PMID: 17880261
Endometriosis	INFBASE24316322

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24316322	Endometrio sis						Show abstract