Human Gene CTSV (ENST00000259470.6) from GENCODE V44
  Description: Homo sapiens cathepsin V (CTSV), transcript variant 1, mRNA. (from RefSeq NM_001333)
RefSeq Summary (NM_001333): The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011].
Gencode Transcript: ENST00000259470.6
Gencode Gene: ENSG00000136943.12
Transcript (Including UTRs)
   Position: hg38 chr9:97,029,677-97,039,142 Size: 9,466 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr9:97,032,949-97,038,043 Size: 5,095 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:97,029,677-97,039,142)mRNA (may differ from genome)Protein (334 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CATL2_HUMAN
DESCRIPTION: RecName: Full=Cathepsin L2; EC=3.4.22.43; AltName: Full=Cathepsin U; AltName: Full=Cathepsin V; Flags: Precursor;
FUNCTION: Cysteine protease. May have an important role in corneal physiology.
CATALYTIC ACTIVITY: The recombinant enzyme hydrolyzes proteins (serum albumin, collagen) and synthetic substrates (Z-Phe-Arg- NHMec > Z-Leu-Arg-NHMec > Z-Val-Arg-NHMec).
SUBCELLULAR LOCATION: Lysosome (Potential).
TISSUE SPECIFICITY: Predominantly expressed in the thymus and testis. Also expressed in corneal epithelium, and to a lesser extent in conjunctival epithelium and skin.
SIMILARITY: Belongs to the peptidase C1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 45.00 RPKM in Testis
Total median expression: 132.92 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.5082-0.299 Picture PostScript Text
3' UTR -875.003272-0.267 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025661 - Pept_asp_AS
IPR000169 - Pept_cys_AS
IPR025660 - Pept_his_AS
IPR013128 - Peptidase_C1A
IPR000668 - Peptidase_C1A_C
IPR013201 - Prot_inhib_I29

Pfam Domains:
PF08246 - Cathepsin propeptide inhibitor domain (I29)
PF00112 - Papain family cysteine protease

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1FH0 - X-ray 3H6S - X-ray MuPIT 3KFQ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O60911
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004177 aminopeptidase activity
GO:0004197 cysteine-type endopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008234 cysteine-type peptidase activity
GO:0016787 hydrolase activity
GO:0016807 cysteine-type carboxypeptidase activity
GO:0030984 kininogen binding
GO:0042277 peptide binding
GO:0042393 histone binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0006508 proteolysis
GO:0007154 cell communication
GO:0007283 spermatogenesis
GO:0008584 male gonad development
GO:0009267 cellular response to starvation
GO:0009749 response to glucose
GO:0010259 multicellular organism aging
GO:0010839 negative regulation of keratinocyte proliferation
GO:0014070 response to organic cyclic compound
GO:0016485 protein processing
GO:0016540 protein autoprocessing
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0021675 nerve development
GO:0022617 extracellular matrix disassembly
GO:0031069 hair follicle morphogenesis
GO:0034698 response to gonadotropin
GO:0045616 regulation of keratinocyte differentiation
GO:0046697 decidualization
GO:0048102 autophagic cell death
GO:0051384 response to glucocorticoid
GO:0051603 proteolysis involved in cellular protein catabolic process
GO:0060008 Sertoli cell differentiation
GO:1990834 response to odorant
GO:2000249 regulation of actin cytoskeleton reorganization

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005773 vacuole
GO:0005902 microvillus
GO:0009897 external side of plasma membrane
GO:0030141 secretory granule
GO:0031410 cytoplasmic vesicle
GO:0043005 neuron projection
GO:0043202 lysosomal lumen
GO:0043204 perikaryon
GO:0045177 apical part of cell


-  Descriptions from all associated GenBank mRNAs
  BC067289 - Homo sapiens cathepsin L2, mRNA (cDNA clone IMAGE:30377884), partial cds.
LF384931 - JP 2014500723-A/192434: Polycomb-Associated Non-Coding RNAs.
MA620508 - JP 2018138019-A/192434: Polycomb-Associated Non-Coding RNAs.
JD049916 - Sequence 30940 from Patent EP1572962.
JD285541 - Sequence 266565 from Patent EP1572962.
JD072320 - Sequence 53344 from Patent EP1572962.
JD345664 - Sequence 326688 from Patent EP1572962.
JD345665 - Sequence 326689 from Patent EP1572962.
JD345663 - Sequence 326687 from Patent EP1572962.
JD160698 - Sequence 141722 from Patent EP1572962.
BC023504 - Homo sapiens cathepsin L2, mRNA (cDNA clone MGC:2011 IMAGE:3139314), complete cds.
AB001928 - Homo sapiens mRNA for cathepsin V, complete cds.
AY358641 - Homo sapiens clone DNA40619 cathepsin L2 (UNQ268) mRNA, complete cds.
LF331917 - JP 2014500723-A/139420: Polycomb-Associated Non-Coding RNAs.
MA567494 - JP 2018138019-A/139420: Polycomb-Associated Non-Coding RNAs.
Y14734 - Homo sapiens mRNA for cathepsin L2.
LF331918 - JP 2014500723-A/139421: Polycomb-Associated Non-Coding RNAs.
MA567495 - JP 2018138019-A/139421: Polycomb-Associated Non-Coding RNAs.
AF070448 - Homo sapiens cathepsin U (CTSU) mRNA, complete cds.
BC110512 - Homo sapiens cathepsin L2, mRNA (cDNA clone MGC:125957 IMAGE:40031744), complete cds.
AK312806 - Homo sapiens cDNA, FLJ93235, highly similar to Homo sapiens cathepsin L2 (CTSL2), mRNA.
KJ891004 - Synthetic construct Homo sapiens clone ccsbBroadEn_00398 CTSL2 gene, encodes complete protein.
LF331919 - JP 2014500723-A/139422: Polycomb-Associated Non-Coding RNAs.
MA567496 - JP 2018138019-A/139422: Polycomb-Associated Non-Coding RNAs.
AK310740 - Homo sapiens cDNA, FLJ17782.
LF331920 - JP 2014500723-A/139423: Polycomb-Associated Non-Coding RNAs.
MA567497 - JP 2018138019-A/139423: Polycomb-Associated Non-Coding RNAs.
LF331921 - JP 2014500723-A/139424: Polycomb-Associated Non-Coding RNAs.
MA567498 - JP 2018138019-A/139424: Polycomb-Associated Non-Coding RNAs.
LF331922 - JP 2014500723-A/139425: Polycomb-Associated Non-Coding RNAs.
MA567499 - JP 2018138019-A/139425: Polycomb-Associated Non-Coding RNAs.
AK310645 - Homo sapiens cDNA, FLJ17687.
LF331923 - JP 2014500723-A/139426: Polycomb-Associated Non-Coding RNAs.
MA567500 - JP 2018138019-A/139426: Polycomb-Associated Non-Coding RNAs.
JD034276 - Sequence 15300 from Patent EP1572962.
LF331924 - JP 2014500723-A/139427: Polycomb-Associated Non-Coding RNAs.
MA567501 - JP 2018138019-A/139427: Polycomb-Associated Non-Coding RNAs.
LF331925 - JP 2014500723-A/139428: Polycomb-Associated Non-Coding RNAs.
MA567502 - JP 2018138019-A/139428: Polycomb-Associated Non-Coding RNAs.
LF331926 - JP 2014500723-A/139429: Polycomb-Associated Non-Coding RNAs.
MA567503 - JP 2018138019-A/139429: Polycomb-Associated Non-Coding RNAs.
LF331927 - JP 2014500723-A/139430: Polycomb-Associated Non-Coding RNAs.
MA567504 - JP 2018138019-A/139430: Polycomb-Associated Non-Coding RNAs.
LF331928 - JP 2014500723-A/139431: Polycomb-Associated Non-Coding RNAs.
MA567505 - JP 2018138019-A/139431: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04142 - Lysosome

Reactome (by CSHL, EBI, and GO)

Protein O60911 (Reactome details) participates in the following event(s):

R-HSA-8938108 SERPINB13 binds cathepsin L
R-HSA-2130349 Generation of CLIP from lip10
R-HSA-2130706 MHC class II antigen processing
R-HSA-2130504 Cleavage of lip22 to lip10
R-HSA-1592362 Activation of proMMP7 by MMP3
R-HSA-1604752 Initial activation of proMMP13 by MMP3
R-HSA-2514772 Fibrillin-1 degradation by MMP3, CTSK, CTSL2
R-HSA-2213200 Release of endostatin-like peptides
R-HSA-1236948 Antigen processing by cathepsin S in endosoytic vesicle
R-HSA-1678981 TLR9 processing at neutral pH
R-HSA-8939242 RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-2132295 MHC class II antigen presentation
R-HSA-1592389 Activation of Matrix Metalloproteinases
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-1236977 Endosomal/Vacuolar pathway
R-HSA-1679131 Trafficking and processing of endosomal TLR
R-HSA-212436 Generic Transcription Pathway
R-HSA-1280218 Adaptive Immune System
R-HSA-1474244 Extracellular matrix organization
R-HSA-1474290 Collagen formation
R-HSA-1236975 Antigen processing-Cross presentation
R-HSA-168898 Toll-Like Receptors Cascades
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-168256 Immune System
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-168249 Innate Immune System
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: CATL2, CATL2_HUMAN, CTSL2, CTSU, ENST00000259470.1, ENST00000259470.2, ENST00000259470.3, ENST00000259470.4, ENST00000259470.5, NM_001333, O60233, O60911, Q2TB86, Q5T1U0, uc004awt.1, uc004awt.2, uc004awt.3, uc004awt.4, uc004awt.5, UNQ268/PRO305
UCSC ID: ENST00000259470.6
RefSeq Accession: NM_001333
Protein: O60911 (aka CATL2_HUMAN)
CCDS: CCDS6723.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.