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P00736 Proteins CUB domain Repeats
Uniprot ID:P00736
Protein name: Complement C1r subcomponent
Gene : C1R
Protein Family:Peptidase S1 family
Squence Length : 705
Sequnce
>P00736 706 MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVFQQFDLEPSEGCFYDYVKISADKKSLGRFCGQLGSPLGNPPGKKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRSKSGEEDPQPQCQHLCHNYVGGYFCSCRPGYELQEDTHSCQAECSSELYTEASGYISSLEYPRSYPPDLRCNYSIRVERGLTLHLKFLEPFDIDDHQQVHCPYDQLQIYANGKNIGEFCGKQRPPDLDTSSNAVDLLFFTDESGDSRGWKLRYTTEIIKCPQPKTLDEFTIIQNLQPQYQFRDYFIATCKQGYQLIEGNQVLHSFTAVCQDDGTWHRAMPRCKIKDCGQPRNLPNGDFRYTTTMGVNTYKARIQYYCHEPYYKMQTRAGSRESEQGVYTCTAQGIWKNEQKGEKIPRCLPVCGKPVNPVEQRQRIIGGQKAKMGNFPWQVFTNIHGRGGGALLGDRWILTAAHTLYPKEHEAQSNASLDVFLGHTNVEELMKLGNHPIRRVSVHPDYRQDESYNFEGDIALLELENSVTLGPNLLPICLPDNDTFYDLGLMGYVSGFGVMEEKIAHDLRFVRLPVANPQACENWLRGKNRMDVFSQNMFCAGHPSLKQDACQGDSGGVFAVRDPNTDRWVATGIVSWGIGCSRGYGFYTKVLNYVDWIKKEMEEED
Domains
DOMAIN 18 141 CUB 1 DOMAIN 142 190 EGF-like calcium-binding DOMAIN 193 305 CUB 2 DOMAIN 307 373 Sushi 1 DOMAIN 374 449 Sushi 2 DOMAIN 464 702 Peptidase S1
CUB sequence regions
18 - 141 PIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVFQQFDLEPSEGCFYDYVKISADKKSLGRFCGQLGSPLGNPPGKKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDL 193 - 305 SELYTEASGYISSLEYPRSYPPDLRCNYSIRVERGLTLHLKFLEPFDIDDHQQVHCPYDQLQIYANGKNIGEFCGKQRPPDLDTSSNAVDLLFFTDESGDSRGWKLRYTTEII
Function
"C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system"
Active Site
ACT_SITE 502 502 Charge relay system. ACT_SITE 557 557 Charge relay system. ACT_SITE 654 654 Charge relay system
Disease
"DISEASE: Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080]: 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 Note=The disease is caused by mutations affecting the gene represented in this entry"