Entity Details

Primary name C1S_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP09871
EntryNameC1S_HUMAN
FullNameComplement C1s subcomponent
TaxID9606
Evidenceevidence at protein level
Length688
SequenceStatuscomplete
DateCreated1989-07-01
DateModified2021-06-02

Ontological Relatives

GenesC1S

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:0006956 complement activation
GO:0006958 complement activation, classical pathway
GO:0030449 regulation of complement activation
GO:0042802 identical protein binding
GO:0045087 innate immune response
GO:0072562 blood microparticle

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000152 EGF-type aspartate/asparagine hydroxylation sitePTMPTM
IPR000436 Sushi/SCR/CCP 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
IPR035708 Complement C1s 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
617174 OMIMEhlers-Danlos syndrome, periodontal type, 2 (EDSPD2)A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD2 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. EDSPD2 transmission pattern is consistent with autosomal dominant inheritance. The disease is caused by variants affecting the gene represented in this entry.
613783 OMIMComplement component C1s deficiency (C1SD)A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB01593 ZincDrugbanksmall molecule
DB02371 2-(2-Hydroxy-1,1-Dihydroxymethyl-Ethylamino)-Ethanesulfonic AcidDrugbanksmall molecule
DB06404 Human C1-esterase inhibitorDrugbankbiotech
DB09130 CopperDrugbanksmall molecule
DB09228 Conestat alfaDrugbankbiotech
DB12831 GabexateDrugbanksmall molecule
DB14487 Zinc acetateDrugbanksmall molecule
DB14533 Zinc chlorideDrugbanksmall molecule
DB14548 Zinc sulfate, unspecified formDrugbanksmall molecule