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CTSV cathepsin V [ Homo sapiens (human) ]

Gene ID: 1515, updated on 1-Jun-2020

Summary

Official Symbol
CTSVprovided by HGNC
Official Full Name
cathepsin Vprovided by HGNC
Primary source
HGNC:HGNC:2538
See related
Ensembl:ENSG00000136943 MIM:603308
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

Genomic context

See CTSV in Genome Data Viewer
Location:
9q22.33
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (97029677..97039643, complement)
105 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 major facilitator superfamily domain containing 14C Neighboring gene NUT family member 2G Neighboring gene yrdC N(6)-threonylcarbamoyltransferase domain containing pseudogene 2 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

Homology

Clone Names

  • MGC125957

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
kininogen binding IEA
Inferred from Electronic Annotation
more info
 
peptide binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Sertoli cell differentiation IEA
Inferred from Electronic Annotation
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
autophagic cell death IEA
Inferred from Electronic Annotation
more info
 
cellular response to starvation IEA
Inferred from Electronic Annotation
more info
 
decidualization IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
multicellular organism aging IEA
Inferred from Electronic Annotation
more info
 
nerve development IEA
Inferred from Electronic Annotation
more info
 
proteolysis involved in cellular protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of keratinocyte differentiation TAS
Traceable Author Statement
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
response to gonadotropin IEA
Inferred from Electronic Annotation
more info
 
response to odorant IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microvillus IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
secretory granule IEA
Inferred from Electronic Annotation
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)

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_001201575.1NP_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
    UniProtKB/TrEMBL
    A0A024R141, B2R717
    Related
    ENSP00000445052.1, ENST00000538255.5
    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
    O60911
    UniProtKB/TrEMBL
    A0A024R141
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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