Cst3 cystatin C [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cst3provided by MGI
Official Full Name: cystatin Cprovided by MGI
Primary source: MGI:MGI:102519
See related: Ensembl:ENSMUSG00000027447 AllianceGenome:MGI:102519
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CysC
Summary: The protein encoded by this gene is a cysteine protease inhibitor involved in neurodegenerative and cardiovascular processes. The encoded protein inhibits aggregation of beta-amyloid protein, a hallmark of Alzheimer's disease, so it may be useful as a therapeutic. This protein also may be a biomarker for atherosclerosis. [provided by RefSeq, Aug 2015]
Expression: Ubiquitous expression in cortex adult (RPKM 1074.3), frontal lobe adult (RPKM 1072.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 G3; 2 73.6 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (148713642..148717432, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (148871722..148875512, complement)

Chromosome 2 - NC_000068.8 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?

Loss of cystatin C regulates permeability and inflammatory pathways in retina.
Title: Loss of cystatin C regulates permeability and inflammatory pathways in retina.
Hypoxic vasodilatory defect and pulmonary hypertension in mice lacking hemoglobin beta-cysteine93 S-nitrosylation.
Title: Hypoxic vasodilatory defect and pulmonary hypertension in mice lacking hemoglobin β-cysteine93 S-nitrosylation.
pH-dependent and dynamic interactions of cystatin C with heparan sulfate.
Title: pH-dependent and dynamic interactions of cystatin C with heparan sulfate.
Deciphering the autophagy regulatory network via single-cell transcriptome analysis reveals a requirement for autophagy homeostasis in spermatogenesis.
Title: Deciphering the autophagy regulatory network via single-cell transcriptome analysis reveals a requirement for autophagy homeostasis in spermatogenesis.
cystatin C promoted skewing of T cells toward proinflammatory T-helper (Th)1/Th17 differentiation which was mediated by augmented extracellular signal-regulated kinase 1/2 mitogen-activated protein kinase phosphorylation.
Title: Cystatin C regulates major histocompatibility complex-II-peptide presentation and extracellular signal-regulated kinase-dependent polarizing cytokine production by bone marrow-derived dendritic cells.
In mouse and human lungs with interstitial fibrosis, CST3 and GDF15 expression levels were markedly reduced, and the restoration of these cytokines alleviated the fibrotic changes in mouse lungs.
Title: Epithelial cell-derived cytokines CST3 and GDF15 as potential therapeutics for pulmonary fibrosis.
CysC plays an important regulatory role in combating cell death via the autophagic pathway in atherosclerosis.
Title: Autophagy dysfunction and regulatory cystatin C in macrophage death of atherosclerosis.
Data (including data from studies in mutant mice) suggest that up-regulation of Cst3, as observed in plasma of mice with type 2 diabetes, down-regulates insulin signaling and promotes endoplasmic reticulum stress in hepatocytes but not in myotubes.
Title: Cystatin C attenuates insulin signaling transduction by promoting endoplasmic reticulum stress in hepatocytes.
Cystatin C is a potential pathogenic signal triggering neurodegeneration in multiple system atrophy.
Title: Cystatin C triggers neuronal degeneration in a model of multiple system atrophy.
The neuroprotective activity of CysC against Amyotrophic lateral sclerosis-linked mutant Cu/Zn-superoxide dismutase (SOD1)-mediated toxicity.
Title: Cystatin C protects neuronal cells against mutant copper-zinc superoxide dismutase-mediated toxicity.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Variation

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Alleles

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

Targeted (4) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

M59470 (e-PCR)
- UniSTS:178729

Cst3 (e-PCR), detects polymorphism
- UniSTS:141437

Cst3 (e-PCR), detects polymorphism
- UniSTS:532124

NoName (e-PCR)
- UniSTS:532125

Cst3 (e-PCR), detects polymorphism
- UniSTS:532125

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables amyloid-beta binding	ISO Inferred from Sequence Orthology more info
enables cysteine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables peptidase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables protease binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cellular response to oxidative stress	ISO Inferred from Sequence Orthology more info
involved_in defense response	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of blood vessel remodeling	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of collagen catabolic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of elastin catabolic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of extracellular matrix disassembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of peptidase activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of proteolysis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA replication	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in regulation of tissue remodeling	ISO Inferred from Sequence Orthology more info
involved_in supramolecular fiber organization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in basement membrane	ISO Inferred from Sequence Orthology more info
located_in cell projection	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in contractile muscle fiber	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in multivesicular body	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cystatin-C

Names: cystatin-3

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.