• Gene id: 715

Gene Summary

• Gene Symbol: C1R   Gene   UCSC   Ensembl
• Aliases: EDSPD1
• Gene name: complement C1r
• Alternate names: complement C1r subcomponent, complement component 1, r subcomponent,
• Gene location: 12p13.31 (7092444: 7080218)     Exons: 12     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis,
• OMIM: 602788

SNPs

rs2287498

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7689242C>T
NC_000017.10   g.7592560C>T
NG_017013.2   g.3309G>A
NG_028245.1   g.8172C>T
NM_018081.2   c.450C>T
NM_001143991.2   c.450C>T
NM_001143991.1   c.450C>T
NM_001143992.2   c.450C>T
NM_001143992.1   c.450C>T
NM_001143990.1   c.450C>T
XR_001752551.  

rs1042522

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7676154G>A
NC_000017.11   g.7676154G>C
NC_000017.11   g.7676154G>T
NC_000017.10   g.7579472G>A
NC_000017.10   g.7579472G>C
NC_000017.10   g.7579472G>T
NG_017013.2   g.16397C>T
NG_017013.2   g.16397C>G
NG_017013.2   g.16397C>A
NM_000546.6   c.215C>T
NM_0  

Protein Summary

• Protein general information: P00736  
  • Name: Complement C1r subcomponent (EC 3.4.21.41) (Complement component 1 subcomponent r) [Cleaved into: Complement C1r subcomponent heavy chain; Complement C1r subcomponent light chain]
  • Length: 705  
  • Mass: 80119
• Sequence:

  MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVFQQFDLEPSEGCFYDY
  VKISADKKSLGRFCGQLGSPLGNPPGKKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRS
  KSGEEDPQPQCQHLCHNYVGGYFCSCRPGYELQEDTHSCQAECSSELYTEASGYISSLEYPRSYPPDLRCNYSIR
  VERGLTLHLKFLEPFDIDDHQQVHCPYDQLQIYANGKNIGEFCGKQRPPDLDTSSNAVDLLFFTDESGDSRGWKL
  RYTTEIIKCPQPKTLDEFTIIQNLQPQYQFRDYFIATCKQGYQLIEGNQVLHSFTAVCQDDGTWHRAMPRCKIKD
  CGQPRNLPNGDFRYTTTMGVNTYKARIQYYCHEPYYKMQTRAGSRESEQGVYTCTAQGIWKNEQKGEKIPRCLPV
  CGKPVNPVEQRQRIIGGQKAKMGNFPWQVFTNIHGRGGGALLGDRWILTAAHTLYPKEHEAQSNASLDVFLGHTN
  VEELMKLGNHPIRRVSVHPDYRQDESYNFEGDIALLELENSVTLGPNLLPICLPDNDTFYDLGLMGYVSGFGVME
  EKIAHDLRFVRLPVANPQACENWLRGKNRMDVFSQNMFCAGHPSLKQDACQGDSGGVFAVRDPNTDRWVATGIVS
  WGIGCSRGYGFYTKVLNYVDWIKKEMEEED

• Structural information:
  • Protein Domains: (18..14-)
    (/note="CUB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (142..19-)
    (/note="EGF-lik-)
    (-)
    (/evidence="ECO:0000255-)
    (193..30-)
    (/note="CUB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (30-)
  • Interpro: IPR035707  IPR000859  IPR001881  IPR013032  IPR000742   IPR000152  IPR018097  IPR009003  IPR001314  IPR035914  IPR035976  IPR000436  IPR001254  IPR033116  
  • Prosite: PS00010 PS01180 PS01186 PS01187 PS50923 PS50240 PS00135
  • CDD: cd00033 cd00041 cd00190
  • PDB: 1APQ 1GPZ 1MD7 1MD8 2QY0 6F1C 6F1D 6F1H 6F39
  • PDBsum: 1APQ 1GPZ 1MD7 1MD8 2QY0 6F1C 6F1D 6F1H 6F39
  • STRING: ENSP00000438615
• Other Databases: GeneCards:  C1R  Malacards:  C1R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0031638	zymogen activation	IBA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0008236	serine-type peptidase activity	TAS	molecular function
GO:0006955	immune response	TAS	biological process
GO:0004252	serine-type endopeptidase activity	EXP	molecular function
GO:0006958	complement activation, classical 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:0006956	complement activation	TAS	biological process
GO:0030449	regulation of complement activation	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0031638	zymogen activation	IDA	biological process
GO:0005576	extracellular region	NAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04145	Phagosome
hsa05322	Systemic lupus erythematosus
hsa05150	Staphylococcus aureus infection
hsa04610	Complement and coagulation cascades
hsa05133	Pertussis

Diseases

Associated diseases	References
Ehlers-Danlos syndrome periodontal type	KEGG:H02240
Classic complement pathway component defects	KEGG:H00102
Ehlers-Danlos syndrome periodontal type	KEGG:H02240
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881