• Gene id: 727

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 (121074864: 120952334)     Exons: 43     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 genera
• 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: 188305
• 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: (698..73-)
    (/note="Anaphylatoxin-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00022-)
    (1532..167-)
    (/note="NTR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00295"-)
  • Interpro: IPR009048  IPR036595  IPR011625  IPR011626  IPR000020   IPR018081  IPR001840  IPR041425  IPR037562  IPR013783  IPR001599  IPR002890  IPR041555  IPR040839  IPR001134  IPR018933  IPR008930  IPR008993  
  • Prosite: PS01177 PS01178 PS50189
  • CDD: cd00017
  • PDB: 1CFA 1KJS 1XWE 3CU7 3HQA 3HQB 3KLS 3KM9 3PRX 3PVM 4A5W 4E0S 4P39 4UU9 5B4P 5B71 5HCC 5HCD 5HCE 5I5K 6H03 6H04 6RPT
  • PDBsum: 1CFA 1KJS 1XWE 3CU7 3HQA 3HQB 3KLS 3KM9 3PRX 3PVM 4A5W 4E0S 4P39 4UU9 5B4P 5B71 5HCC 5HCD 5HCE 5I5K 6H03 6H04 6RPT
  • STRING: ENSP00000223642
• Other Databases: GeneCards:  C5  Malacards:  C5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005579	membrane attack complex	IDA	cellular component
GO:0004866	endopeptidase inhibitor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0006956	complement activation	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005579	membrane attack complex	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0006957	complement activation, alternative pathway	IEA	biological process
GO:0019835	cytolysis	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0008009	chemokine activity	TAS	molecular function
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0006935	chemotaxis	TAS	biological process
GO:0006954	inflammatory response	TAS	biological process
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0000187	activation of MAPK activity	TAS	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
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:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0030449	regulation of complement activation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010760	negative regulation of macrophage chemotaxis	IDA	biological process
GO:0090197	positive regulation of chemokine secretion	IDA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IDA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0060326	cell chemotaxis	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa04080	Neuroactive ligand-receptor interaction
hsa05322	Systemic lupus erythematosus
hsa05150	Staphylococcus aureus infection
hsa04610	Complement and coagulation cascades
hsa05133	Pertussis
hsa05020	Prion diseases

Diseases

Associated diseases	References
Adult respiratory distress syndrome	PMID:3826891
Adult respiratory distress syndrome	PMID:3264125
factor VIII deficiency	PMID:6912882
neutropenia	PMID:10516626
Cystic fibrosis	PMID:3540828
Asthma	PMID:20143644
Asthma	PMID:15278436
Chronic obstructive pulmonary disease	PMID:20500690
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq