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CTSV cathepsin V [ Homo sapiens (human) ]

Gene ID: 1515, updated on 13-Mar-2024

Summary

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
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Genomic context

Location:
9q22.33
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (97029677..97039643, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (109201457..109211423, complement)
105.20220307 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

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC125957

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase activator activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
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 immune response IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of peptidase activity IBA
Inferred from Biological aspect of Ancestor
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

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_001201575.2NP_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:2987
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:114332
    Peptidase_C1; Papain family cysteine protease
  2. NM_001333.4NP_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:2987
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:114332
    Peptidase_C1; Papain family cysteine protease

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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)