| Type | Description |
|---|---|
| Definition | cathepsin C |
| Date | Results | Publications |
|---|---|---|
| 2021-01-16 15:57:00 | Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia. | 31846207 |
| 2020-07-11 10:11:00 | WES revealed two putative phenotype-modifying variants: (i) a missense mutation (rs34608771) of the SH2 domain containing 4A (SH2D4A) gene encoding an adaptor protein involved in intracellular signalling of cystatin F, a known inhibitor of the cathepsin protein, and (ii) a missense variant (rs55695858) of the odorant binding protein 2A (OBP2A) gene, influencing the function of the cathepsin protein | 31925812 |
| 2020-04-11 12:43:00 | Active cathepsin C lacking the exclusion domain has endoproteolytic activity. The enzyme has a preference for Leu, Phe and Pro, but not Val, in position P2. It cleaves macromolecular substrates such as elastin and gelatin. It is more stable at pH 7.4 than other ubiquitous lysosomal proteases. | 30703555 |
| 2019-12-07 10:45:00 | A novel homozygous missense variant in exon 2 of CTSC (NM_148170, c.G302C, p.Trp101Ser) predicted to disrupt protein structure and to be disease causing. | 31068678 |
| 2019-08-24 11:28:00 | the study reveals that CTSC targeting plays a key role in the regulation of autophagy mediated colorectal cancer cell proliferation. | 29501728 |
| Type | IDs |
|---|---|
| Synonymous | CPPI, DPP-I, DPP1, DPPI, HMS, JP, JPD, PALS, PDON1, PLS |
| Gene |
UniProtKB-ID:
CATC_HUMAN
UniprotKB:
P53634
UniParc:
UPI000016118F,
UPI00006A863B,
UPI000006D22D
EMBL:
BC113897,
AF525033,
BC109386,
BC054028,
BC100893,
AF254757,
BX537913,
AF234263,
AK292117,
BC100894,
AF234264,
BC100891,
AK311923,
AK223038,
BC113850,
BC100892,
AF525032,
X87212,
AC011088,
BC110071,
CH471185,
U79415
Ensembl:
ENSG00000109861
KO:
hsa:1075
|
| Nucleutide sequences |
EMBL-CDS:
BAF84806.1,
AAI00894.1,
CAD97897.1,
AAI00895.1,
AAQ08888.1,
AAI13851.1,
AAI13898.1,
AAQ08887.1,
AAL48195.1,
AAL48191.1,
AAI00893.1,
AAI10072.1,
CAA60671.1,
AAL48192.1,
AAI00892.1,
AAC51341.1,
AAI09387.1,
BAD96758.1,
EAW59364.1,
AAH54028.1,
BAG34864.1
Ensembl_TRS:
ENST00000227266,
ENST00000529974,
ENST00000524463
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000227266,
ENSP00000433539,
ENSP00000432541
RefSeq:
NP_001107645.1,
NP_680475.1,
NP_001805.4
|
| Others |
UniRef100:
UniRef100_P53634
UniRef90:
UniRef90_P53634
UniRef50:
UniRef50_P53634
UniGene:
Hs.128065
CCDS:
CCDS31654.1,
CCDS8282.1,
CCDS44693.1
|
| {{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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