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CTSO cathepsin O [ Homo sapiens (human) ]

Gene ID: 1519, updated on 11-Jun-2021

Summary

Official Symbol
CTSOprovided by HGNC
Official Full Name
cathepsin Oprovided by HGNC
Primary source
HGNC:HGNC:2542
See related
Ensembl:ENSG00000256043 MIM:600550
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
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Genomic context

See CTSO in Genome Data Viewer
Location:
4q32.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (155924118..155953866, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (156845270..156875018, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene acid sensing ion channel subunit family member 5 Neighboring gene uncharacterized LOC105377507 Neighboring gene tryptophan 2,3-dioxygenase Neighboring gene Sharpr-MPRA regulatory region 9973 Neighboring gene ferritin heavy chain 1 pseudogene 21

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

Phenotypes

Associated conditions

Description Tests
First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 cellular protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_001334.3NP_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
    Related
    ENSP00000414904.3, ENST00000433477.4
    Conserved Domains (1) summary
    cd02248
    Location:109319
    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, ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    155924118..155953866 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315914.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    88741..118483 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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