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CTSV cathepsin V [ Homo sapiens (human) ]

Gene ID: 1515, updated on 7-Apr-2025

Summary

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Official Symbol
CTSVprovided by HGNC
Official Full Name
cathepsin Vprovided by HGNC
Primary source
HGNC:HGNC:2538
See related
Ensembl:ENSG00000136943 MIM:603308; AllianceGenome:HGNC:2538
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CTSU; CATL2; CTSL2
Summary
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]
Expression
Biased expression in testis (RPKM 18.5), skin (RPKM 8.5) and 3 other tissues See more
Orthologs
all
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Genomic context

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See CTSV in Genome Data Viewer
Location:
9q22.33
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (97029677..97039643, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (109201457..109211423, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (99791959..99801925, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 782 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:99693219-99694104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:99694105-99694990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:99697969-99698597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:99698598-99699226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:99701353-99701853 Neighboring gene NUT family member 2G Neighboring gene major facilitator superfamily domain containing 14C, pseudogene Neighboring gene yrdC N(6)-threonylcarbamoyltransferase domain containing pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:99739460-99739668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:99750992-99751492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20097 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:99817940-99818440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:99818441-99818941 Neighboring gene transcription elongation factor A1 pseudogene 1 Neighboring gene growth arrest specific 2 like 1 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Degraded melanocores are incompetent to protect epidermal keratinocytes against UV damage. Yi WJ, et al. Cell Cycle, 2018. PMID 29623762, Free PMC Article
  2. Determination of cathepsin V activity and intracellular trafficking by N-glycosylation. Niwa Y, et al. FEBS Lett, 2012 Oct 19. PMID 22967898
  3. Decreased cathepsin V expression due to Fli1 deficiency contributes to the development of dermal fibrosis and proliferative vasculopathy in systemic sclerosis. Noda S, et al. Rheumatology (Oxford), 2013 May. PMID 23287360
  4. Cathepsin V is correlated with the prognosis and tumor microenvironment in liver cancer. Liu J, et al. Mol Carcinog, 2024 Mar. PMID 38051285
  5. Expression of cysteine protease cathepsin L is increased in endometrial cancer and correlates with expression of growth regulatory genes. Skrzypczak M, et al. Cancer Invest, 2012 Jun. PMID 22452389

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cathepsin V is correlated with the prognosis and tumor microenvironment in liver cancer.
    Title: Cathepsin V is correlated with the prognosis and tumor microenvironment in liver cancer.
  2. Cathepsin V: Molecular characteristics and significance in health and disease.
    Title: Cathepsin V: Molecular characteristics and significance in health and disease.
  3. CTSV (cathepsin V) promotes bladder cancer progression by increasing NF-kappaB activity.
    Title: CTSV (cathepsin V) promotes bladder cancer progression by increasing NF-κB activity.
  4. Cathepsin V suppresses GATA3 protein expression in luminal A breast cancer.
    Title: Cathepsin V suppresses GATA3 protein expression in luminal A breast cancer.
  5. Cathepsin V Mediates the Tazarotene-induced Gene 1-induced Reduction in Invasion in Colorectal Cancer Cells.
    Title: Cathepsin V Mediates the Tazarotene-induced Gene 1-induced Reduction in Invasion in Colorectal Cancer Cells.
  6. HMGB1 mediates homocysteine-induced endothelial cells pyroptosis via cathepsin V-dependent pathway.
    Title: HMGB1 mediates homocysteine-induced endothelial cells pyroptosis via cathepsin V-dependent pathway.
  7. Significance of nuclear cathepsin V in normal thyroid epithelial and carcinoma cells.
    Title: Significance of nuclear cathepsin V in normal thyroid epithelial and carcinoma cells.
  8. Expression of elastolytic cathepsins in human skin and their involvement in age-dependent elastin degradation.
    Title: Expression of elastolytic cathepsins in human skin and their involvement in age-dependent elastin degradation.
  9. High expression of CTSV is associated with poor outcome in breast ductal carcinoma in situ and is a potential marker to predict DCIS progression to invasive disease.
    Title: Prognostic significance of cathepsin V (CTSV/CTSL2) in breast ductal carcinoma in situ.
  10. CTSV protein expression increases significantly at adherent sites of extravillous trophoblasts that invade myometrium in placenta accreta cases, but expression is weak at non-adherent sites. Therefore CTSV may play a role in placenta accreta pathogenesis.
    Title: Possible Association between Cathepsin V and the Development of Placenta Accreta Spectrum Disorders.
Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Cathepsin L cleaves HIV-1 gp120 at positions A3-L4 (HSV-1gD domain), K327-G328 (V3 domain), and G431-K432 and Y435-A436 (C4 domain), which is important for antigen processing and presentation PubMed
Tat tat Co-stimulation with pro-atherogenic shear stress and HIV-1 Tat upregulates cathepsin K and V activity in human aortic endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC125957

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cysteine-type endopeptidase activity TAS
Traceable Author Statement
more info
 PubMed 
enables cysteine-type peptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cysteine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables cysteine-type peptidase activity TAS
Traceable Author Statement
more info
 PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
  
involved_in extracellular matrix disassembly TAS
Traceable Author Statement
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis involved in protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cathepsin L2
Names
cathepsin L2, preproprotein
cathepsin U
NP_001188504.1
NP_001324.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001201575.2 → NP_001188504.1  cathepsin L2 preproprotein

    See identical proteins and their annotated locations for NP_001188504.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK312806, AL445670, AW444458
    Consensus CDS
    CCDS6723.1
    UniProtKB/Swiss-Prot
    O60233, O60911, Q2TB86, Q5T1U0
    UniProtKB/TrEMBL
    B2R717
    Related
    ENSP00000506713.1, ENST00000679661.1
    Conserved Domains (2) summary
    smart00848
    Location:29 → 87
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:114 → 332
    Peptidase_C1; Papain family cysteine protease

  2. NM_001333.4 → NP_001324.2  cathepsin L2 preproprotein

    See identical proteins and their annotated locations for NP_001324.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL445670, AW444458, AY358641
    Consensus CDS
    CCDS6723.1
    UniProtKB/Swiss-Prot
    O60233, O60911, Q2TB86, Q5T1U0
    UniProtKB/TrEMBL
    B2R717
    Related
    ENSP00000259470.5, ENST00000259470.6
    Conserved Domains (2) summary
    smart00848
    Location:29 → 87
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:114 → 332
    Peptidase_C1; Papain family cysteine protease

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    97029677..97039643 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    109201457..109211423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60911.2 GenPept UniProtKB/Swiss-Prot:O60911

Gene LinkOut

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