CTSO cathepsin O [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTSOprovided by HGNC
Official Full Name: cathepsin Oprovided by HGNC
Primary source: HGNC:HGNC:2542
See related: Ensembl:ENSG00000256043 MIM:600550; AllianceGenome:HGNC:2542
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: CTSO1
Summary: The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme is involved in cellular protein degradation and turnover. The recombinant form of this enzyme was shown to degrade synthetic peptides typically used as substrates for cysteine proteinases and its proteolytic activity was abolished by an inhibitor of cyteine proteinase. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in gall bladder (RPKM 28.4), liver (RPKM 26.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q32.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (155924118..155953866, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (159256883..159286624, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (156845270..156875018, complement)

Chromosome 4 - NC_000004.12 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?

We report that CTSO reduces the protein levels of BRCA1 and ZNF423 through cysteine proteinase-mediated degradation. We also have identified a series of transcription factors of BRCA1 that are regulated by CTSO at the protein level.
Title: SNPs near the cysteine proteinase cathepsin O gene (CTSO) determine tamoxifen sensitivity in ERα-positive breast cancer through regulation of BRCA1.
a single-nucleotide polymorphism near the CTSO gene is a poor prognostic factor in breast cancer although further research might help to reveal the factors linking this genotype and prognosis.
Title: Prognostic impact of a single-nucleotide polymorphism near the CTSO gene in hormone receptor-positive breast cancer patients.
In this study, various molecular dynamics (MD) simulations of pro- and mature human cathepsins L and O were performed.
Title: Molecular insight into propeptide-protein interactions in cathepsins L and O.

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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

EBI GWAS Catalog

Description
First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CTSO_3199 (e-PCR)
- UniSTS:462136

STS-X77383 (e-PCR)
- UniSTS:20569

SHGC-67696 (e-PCR)
- UniSTS:74362

SHGC-67842 (e-PCR)
- UniSTS:74896

G59197 (e-PCR)
- UniSTS:136370

G62128 (e-PCR)
- UniSTS:139188

D4S3104 (e-PCR)
- UniSTS:11445

SHGC-54139 (e-PCR)
- UniSTS:65009

SHGC-23475 (e-PCR)
- UniSTS:167672

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in proteolysis	TAS Traceable Author Statement more info	PubMed
involved_in proteolysis involved in protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor 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 O

NP_001325.1

EC 3.4.22.42

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_001334.3 → NP_001325.1 cathepsin O preproprotein

See identical proteins and their annotated locations for NP_001325.1

Status: REVIEWED

Source sequence(s)

BC049206, BG617165, BQ006443, X77383

Consensus CDS

CCDS3794.1

UniProtKB/Swiss-Prot

P43234

UniProtKB/TrEMBL

A0A7P0Z4C4

Related

ENSP00000414904.3, ENST00000433477.4

Conserved Domains (1) summary

cd02248
Location:109 → 319

Peptidase_C1A; Peptidase C1A subfamily (MEROPS database nomenclature); composed of cysteine peptidases (CPs) similar to papain, including the mammalian CPs (cathepsins B, C, F, H, L, K, O, S, V, X and W). Papain is an endopeptidase with specific substrate preferences, ...