| Type | Description |
|---|---|
| Definition | complement C1r |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:24:00 | C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome. | 31749804 |
| 2020-01-04 11:37:00 | periodontal Ehlers-Danlos syndrome caused by missense mutations in C1R is consistently associated with a leukoencephalopathy | 30535813 |
| 2018-05-12 10:18:00 | The serine protease domains of C1r and C1s are at the periphery of the C1r2s2 tetramer both when alone or within the nonactivated C1 complex. The C1 complex adopts a conformation incompatible with intramolecular activation of C1. Instead, intermolecular proteolytic activation between neighboring C1 complexes bound to a complement-activating surface occurs. Many structurally unrelated molecular patterns can activate C1. | 28104818 |
| 2017-09-23 11:19:00 | We identified a novel, homozygous, loss-of-function mutation (p.Pro445Leufs*11) in the C1R gene. Using the Sanger method of DNA sequencing in 14 family members, we confirmed the presence of the mutation in 4 patients with early-onset systemic lupus erythematosus and in an asymptomatic 9-year-old girl. Complement levels were low in sera from patients with truncated C1r protein. | 28544690 |
| 2017-05-20 12:27:00 | Periodontal Ehlers-Danlos Syndrome in at least the great majority of cases results from specific classes of heterozygous mutations in C1R and C1S. | 27745832 |
| Type | IDs |
|---|---|
| Synonymous | EDSPD1 |
| Gene |
UniProtKB-ID:
C1R_HUMAN
UniprotKB:
P00736
UniParc:
UPI000186C8D3
EMBL:
AC140077,
M14058,
AC094008,
AB083037,
X04701,
BC035220,
CR749540
Ensembl:
ENSG00000159403
KO:
hsa:715
|
| Nucleutide sequences |
EMBL-CDS:
AAA51851.1,
AAH35220.1,
CAH18343.1,
CAA28407.1,
BAC19850.2
Ensembl_TRS:
ENST00000542285
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000438615
RefSeq:
NP_001724.4,
NP_001341275.1
|
| Others |
UniRef100:
UniRef100_P00736
UniRef90:
UniRef90_P00736
UniRef50:
UniRef50_P00736
UniGene:
Hs.524224
CCDS:
CCDS81658.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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