| Type | Description |
|---|---|
| Definition | calpain 5 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-20 13:23:00 | Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants. | 31968260 |
| 2021-02-02 13:27:00 | Whole-Exome Sequencing of Patients With Posterior Segment Uveitis. | 32707200 |
| 2020-10-24 14:06:00 | Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy. | 31110225 |
| 2020-05-09 13:19:00 | Study found 22 loss-of-function (LOF) CAPN5 variants located throughout the gene and in all major protein domains. Structural modeling of coding variants showed these LOF variants were nearby known vitreoretinopathy-causing variants within the proteolytic core and in regions of high homology between human CAPN5 and 150 homologs, yet the LOF of CAPN5 was tolerated as opposed to gain-of-function disease-causing variants. | 31403230 |
| 2019-04-27 10:45:00 | We describe a pediatric patient with severe inflammatory vitreoretinopathy accompanied by hearing loss and developmental delay associated with a novel, de novo CAPN5 missense mutation (c.865C>T, p.Arg289Trp) that shows greater hyperactivation of the calpain protease, indicating a genotype-phenotype correlation. | 29472286 |
| Type | IDs |
|---|---|
| Synonymous | ADNIV, HTRA3, VRNI, nCL-3 |
| Gene |
UniProtKB-ID:
CAN5_HUMAN,
A0A140VKH4_HUMAN
UniprotKB:
O15484,
A0A140VKH4
UniParc:
UPI0000126E9F
EMBL:
BC018123,
CH471076,
HM005714,
U94346,
Y10552
Ensembl:
ENSG00000149260
KO:
hsa:726
|
| Nucleutide sequences |
EMBL-CDS:
AAH18123.1,
AAC51869.1,
CAA71584.1,
AEE61311.1,
EAW75016.1
Gene_ORFName:
hCG_41870
Ensembl_TRS:
ENST00000531028,
ENST00000529629,
ENST00000648180
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000467244,
ENSP00000498132,
ENSP00000432332
RefSeq:
XP_011543527.1,
NP_004046.2,
XP_016873712.2
|
| Others |
UniRef100:
UniRef100_O15484
UniRef90:
UniRef90_O15484
UniRef50:
UniRef50_O15484
UniGene:
Hs.248153
CCDS:
CCDS8248.1
|
| {{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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