Entity Details

Primary name C1R_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP00736
EntryNameC1R_HUMAN
FullNameComplement C1r subcomponent
TaxID9606
Evidenceevidence at protein level
Length705
SequenceStatuscomplete
DateCreated1986-07-21
DateModified2021-06-02

Ontological Relatives

GenesC1R

GO terms

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GOName
GO:0004252 serine-type endopeptidase activity
GO:0005509 calcium ion binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0006955 immune response
GO:0006956 complement activation
GO:0006958 complement activation, classical pathway
GO:0008236 serine-type peptidase activity
GO:0030449 regulation of complement activation
GO:0031638 zymogen activation
GO:0042802 identical protein binding
GO:0045087 innate immune response
GO:0070062 extracellular exosome
GO:0072562 blood microparticle

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000152 EGF-type aspartate/asparagine hydroxylation sitePTMPTM
IPR000436 Sushi/SCR/CCP domainDomainDomain
IPR000742 EGF-like domainDomainDomain
IPR000859 CUB domainDomainDomain
IPR001254 Serine proteases, trypsin domainDomainDomain
IPR001314 Peptidase S1A, chymotrypsin familyFamilyFamily
IPR001881 EGF-like calcium-binding domainDomainDomain
IPR009003 Peptidase S1, PA clanFamilyHomologous superfamily
IPR018097 EGF-like calcium-binding, conserved siteSiteConserved site
IPR033116 Serine proteases, trypsin family, serine active siteSiteActive site
IPR035707 Complement C1r subcomponentFamilyFamily
IPR035914 Spermadhesin, CUB domain superfamilyFamilyHomologous superfamily
IPR035976 Sushi/SCR/CCP superfamilyFamilyHomologous superfamily
IPR043504 Peptidase S1, PA clan, chymotrypsin-like foldFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
130080 OMIMEhlers-Danlos syndrome, periodontal type, 1 (EDSPD1)A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD1 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00110 PalivizumabDrugbankbiotech
DB00111 DaclizumabDrugbankbiotech
DB01593 ZincDrugbanksmall molecule
DB06404 Human C1-esterase inhibitorDrugbankbiotech
DB09228 Conestat alfaDrugbankbiotech
DB12831 GabexateDrugbanksmall molecule
DB14487 Zinc acetateDrugbanksmall molecule
DB14533 Zinc chlorideDrugbanksmall molecule
DB14548 Zinc sulfate, unspecified formDrugbanksmall molecule