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    CTSV cathepsin V [ Homo sapiens (human) ]

    Gene ID: 1515, updated on 14-Nov-2024

    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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    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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    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
    		  
    enables cysteine-type peptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix disassembly TAS
    Traceable Author Statement
    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
    		  

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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