CTSV cathepsin V [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 9q22.33

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (97029677..97039643, complement)
RS_2023_03	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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cathepsin V: Molecular characteristics and significance in health and disease.
Title: Cathepsin V: Molecular characteristics and significance in health and disease.
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.
Cathepsin V suppresses GATA3 protein expression in luminal A breast cancer.
Title: Cathepsin V suppresses GATA3 protein expression in luminal A breast cancer.
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.
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.
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.
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.
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.
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.
The study demonstrates that change in the proportion of melanocores in the intact/undegraded state by CTSV-related degradation in keratinocytes affects photoprotection of the skin.
Title: Degraded melanocores are incompetent to protect epidermal keratinocytes against UV damage.

Submit: New GeneRIF Correction See all GeneRIFs (32)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC171390P1 (e-PCR)
- UniSTS:271633

D1S1423 (e-PCR)
- UniSTS:149619

PMC164504P1 (e-PCR)
- UniSTS:271486

NoName (e-PCR)
- UniSTS:489694

RH98349 (e-PCR)
- UniSTS:86242

Homology

Homologs of the CTSV gene: The CTSV gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 76 organisms have orthologs with human gene CTSV
Orthologs

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	PubMed
enables cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
involved_in positive regulation of apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of peptidase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in proteolysis involved in protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed

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	PubMed
located_in lysosomal lumen	TAS Traceable Author Statement more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: cathepsin L2

Names: cathepsin L2, preproprotein; cathepsin U

NP_001188504.1

EC 3.4.22.43

NP_001324.2

EC 3.4.22.43

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)

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

O60911, Q5T1U0

UniProtKB/TrEMBL

A0A024R141, 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
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

O60911, Q5T1U0

UniProtKB/TrEMBL

A0A024R141

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