Cts8 cathepsin 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cts8provided by MGI
Official Full Name: cathepsin 8provided by MGI
Primary source: MGI:MGI:1860275
See related: Ensembl:ENSMUSG00000057446 AllianceGenome:MGI:1860275
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CTS2; Epcs68; Epcs70
Summary: Predicted to enable several functions, including collagen binding activity; fibronectin binding activity; and serpin family protein binding activity. Acts upstream of or within blood vessel remodeling; protein catabolic process; and trophoblast giant cell differentiation. Located in extracellular region. Is expressed in several structures, including extraembryonic component; genitourinary system; heart; liver; and lung. Human ortholog(s) of this gene implicated in hypertrophic cardiomyopathy. Orthologous to human CTSL (cathepsin L). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
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Genomic context

Location:: 13 B2; 13 32.68 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (61394561..61403162, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (61246747..61255348, complement)

Chromosome 13 - NC_000079.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)

General gene information

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Markers

Cts8 (e-PCR), detects polymorphism
- UniSTS:166285

UniSTS:256968 (e-PCR)
- UniSTS:256968

Cts8 (e-PCR), detects polymorphism
- UniSTS:256968

Gene Ontology Provided by MGI

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 peptidase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	ISA Inferred from Sequence Alignment more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within blood vessel remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proteolysis	ISA Inferred from Sequence Alignment more info	PubMed
involved_in proteolysis involved in protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within trophoblast giant cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
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

General protein information

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Preferred Names: cathepsin 8

Names: cathepsin 2; ectoplacental cone, invasive trophoblast giant cells, extraembryonic ectoderm and chorion sequence 68

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_019541.3 → NP_062414.3 cathepsin 8 precursor

See identical proteins and their annotated locations for NP_062414.3

Status: VALIDATED

Source sequence(s)

AK049474, BC068241

Consensus CDS

CCDS26587.1

UniProtKB/Swiss-Prot

Q6NV96, Q9JI81

Related

ENSMUSP00000021891.4, ENSMUST00000021891.5

Conserved Domains (2) summary

smart00848
Location:29 → 87

Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)

cd02248
Location:115 → 331

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, ...