Official symbol | CTSC |
Gene id | 1075 |
Organism | Homo sapiens |
Official full symbol | cathepsin C |
Gene type | protein-coding |
Also known as | CPPI, DPP-I, DPP1, DPPI, HMS, JP, JPD, PALS, PDON1, PLS |
Summary | This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. |
Genomic regions | Chromosome 11 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
CTSC-203 | ENST00000524463.6 | 6144 | 137aa | Protein coding | CCDS31654 | P53634-2 | - | TSL:1, GENCODE basic, |
CTSC-201 | ENST00000227266.10 | 1870 | 463aa | Protein coding | CCDS8282 | P53634-1 | NM_001814.6 | TSL:1, GENCODE basic, APPRIS P2, MANE Select v0.92, |
CTSC-212 | ENST00000677106.1 | 840 | 137aa | Protein coding | CCDS31654 | - | - | GENCODE basic, |
CTSC-206 | ENST00000529974.2 | 778 | 141aa | Protein coding | CCDS44693 | P53634-3 | - | TSL:1, GENCODE basic, |
CTSC-230 | ENST00000679224.1 | 2774 | 342aa | Protein coding | - | - | - | GENCODE basic, |
CTSC-223 | ENST00000678506.1 | 1867 | 450aa | Protein coding | - | - | - | GENCODE basic, APPRIS ALT2, |
CTSC-222 | ENST00000678464.1 | 1667 | 452aa | Protein coding | - | - | - | GENCODE basic, |
CTSC-229 | ENST00000679199.1 | 1604 | 134aa | Protein coding | - | - | - | GENCODE basic, |
CTSC-204 | ENST00000527018.6 | 1524 | 325aa | Protein coding | - | H0YCY8 | - | TSL:5, GENCODE basic, |
CTSC-227 | ENST00000678915.1 | 1431 | 419aa | Protein coding | - | - | - | GENCODE basic, |
CTSC-202 | ENST00000393301.5 | 900 | 165aa | Protein coding | - | - | - | TSL:2, GENCODE basic, |
CTSC-219 | ENST00000677976.1 | 724 | 117aa | Protein coding | - | - | - | GENCODE basic, |
CTSC-205 | ENST00000528020.2 | 669 | 21aa | Protein coding | - | H0YDA2 | - | TSL:2, GENCODE basic, |
CTSC-228 | ENST00000679032.1 | 6215 | 150aa | Nonsense mediated decay | - | - | - | - |
CTSC-215 | ENST00000677661.1 | 2468 | 135aa | Nonsense mediated decay | - | - | - | - |
CTSC-217 | ENST00000677802.1 | 1957 | 135aa | Nonsense mediated decay | - | - | - | - |
CTSC-211 | ENST00000676612.1 | 1828 | 48aa | Nonsense mediated decay | - | - | - | - |
CTSC-221 | ENST00000678395.1 | 1802 | 143aa | Nonsense mediated decay | - | - | - | - |
CTSC-213 | ENST00000677208.1 | 1662 | 108aa | Nonsense mediated decay | - | - | - | - |
CTSC-224 | ENST00000678520.1 | 1607 | 48aa | Nonsense mediated decay | - | - | - | - |
CTSC-218 | ENST00000677877.1 | 1239 | 75aa | Nonsense mediated decay | - | - | - | - |
CTSC-225 | ENST00000678554.1 | 1206 | 302aa | Nonsense mediated decay | - | - | - | - |
CTSC-216 | ENST00000677796.1 | 764 | 48aa | Nonsense mediated decay | - | - | - | - |
CTSC-214 | ENST00000677468.1 | 677 | 60aa | Nonsense mediated decay | - | - | - | - |
CTSC-231 | ENST00000679297.1 | 1087 | No protein | Processed transcript | - | - | - | - |
CTSC-209 | ENST00000534131.2 | 672 | No protein | Processed transcript | - | - | - | TSL:2, |
CTSC-226 | ENST00000678664.1 | 619 | No protein | Processed transcript | - | - | - | - |
CTSC-207 | ENST00000533865.6 | 7564 | No protein | Retained intron | - | - | - | TSL:4, |
CTSC-208 | ENST00000533897.2 | 6119 | No protein | Retained intron | - | - | - | TSL:2, |
CTSC-210 | ENST00000676529.1 | 1886 | No protein | Retained intron | - | - | - | - |
CTSC-220 | ENST00000678065.1 | 1587 | No protein | Retained intron | - | - | - | - |
Target Gene | CTSC |
This KO Strategy | loading |
Red Cotton™ Notes | Gene CTSC had been KO in hela cell line. |
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