CST3 cystatin C [Homo sapiens (human)] - Gene

Summary

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Official Symbol: CST3provided by HGNC
Official Full Name: cystatin Cprovided by HGNC
Primary source: HGNC:2475
See related: Ensembl:ENSG00000101439; HPRD:05056; MIM:604312; Vega:OTTHUMG00000032080
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: ARMD11
Summary: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 20p11.21

Sequence :: Chromosome: 20; NC_000020.10 (23614294..23618574, complement)

See CST3 in Epigenomics, MapViewer

Chromosome 20 - NC_000020.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Cystatin C is a reliable marker of glomerular filtration rate in living kidney donors after uninephrectomy.
Title: Is cystatin C valuable marker of glomerular filtration rate in living kidney donors after uninephrectomy?
Discuss vality of cystatin C-based equations for assessing glomerular filtration in various stages of chronic kidney disease.
Title: Creatinine- vs. cystatin C-based equations compared with 99mTcDTPA scintigraphy to assess glomerular filtration rate in chronic kidney disease.
Serum cystatin C levels overestimate glomerular filtration rate in patients with heavy proteinuria.
Title: Creatinine clearance, cystatin C, beta2-microglobulin and TATI as markers of renal function in patients with proteinuria.
Elevated Cystatin C plasma level is associated with mortality in patients with acute coronary syndrome.
Title: Usefulness of β-trace protein and cystatin C for the prediction of mortality in non ST segment elevation acute coronary syndromes.
Antiapoptotic activity of cystatin C results from its inhibitory effect on reactive oxygen species production.
Title: The influence of uremic high cystatin C concentration on neutrophil apoptosis and selected neutrophil functions isolated from healthy subjects.
Data indicate degradation of cystatin C by cathepsin D secreted by breast cancer cells at acidic pH.
Title: Proteolysis of cystatin C by cathepsin D in the breast cancer microenvironment.
Present results of pressure-induced denaturation studies of an amyloidogenic protein-the wild-type human cystatin C (hCC) and its single-point mutants.
Title: Pressure as a denaturing agent in studies of single-point mutants of an amyloidogenic protein human cystatin c.
sCysC was effective for detection of grade 2 diabetic nephropathy and would be especially useful for screening stage 2 chronic kidney disease patients
Title: Serum cystatin C as a marker for early detection of chronic kidney disease and grade 2 nephropathy in Japanese patients with type 2 diabetes.
Serum cystatin C was significantly associated with the presence and severity of asymptomatic coronary artery disease in metabolic syndrome patients with normal kidney function.
Title: Cystatin C and asymptomatic coronary artery disease in patients with metabolic syndrome and normal glomerular filtration rate.
Age negatively correlated with preoperative urinary cystatin C in obstructed hydronephrotic kidneys.
Title: Urinary NGAL, cystatin C, β2-microglobulin, and osteopontin significance in hydronephrotic children.

Submit: New GeneRIF Correction See all (224)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Age-related macular degeneration 11

MIM: 611953

Genetic Testing Registry

Hereditary cerebral amyloid angiopathy, Icelandic type

MIM: 105150

Genetic Testing Registry

NHGRI GWAS Catalog

A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.

New loci associated with kidney function and chronic kidney disease.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P01034	P54253	ATXN1	HPRD	PubMed
P01034	P0C0L4	C4A	HPRD	PubMed
P01034	P07858	CTSB	HPRD	PubMed
P01034	P07339	CTSD	HPRD	PubMed
P01034	P07711	CTSL1	HPRD	PubMed
P01034	P25774	CTSS	HPRD	PubMed
P01034	O15018	PDZD2	HPRD	PubMed
BioGRID:107853	BioGRID:106715	ALB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107853	BioGRID:112217	ATXN1	BioGRID	PubMed	Two-hybrid
BioGRID:107853	BioGRID:107181	C4A	BioGRID	PubMed	Reconstituted Complex
BioGRID:107853	BioGRID:107858	CSTB	BioGRID	PubMed	Biochemical Activity
BioGRID:107853	BioGRID:107888	CTSB	BioGRID	PubMed	Reconstituted Complex
BioGRID:107853	BioGRID:118094	RNF115	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Amyloids, organism-specific biosystem (from REACTOME)
Amyloids, organism-specific biosystemAmyloid is a term used to describe typically extracellular deposits of aggregated proteins, sometimes known as plaques. Abnormal accumulation of amyloid is amyloidosis, a term associated with disease...
Disease, organism-specific biosystem (from REACTOME)
Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
Salivary secretion, organism-specific biosystem (from KEGG)
Salivary secretion, organism-specific biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
Salivary secretion, conserved biosystem (from KEGG)
Salivary secretion, conserved biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...

General gene information

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Markers

STS-AA037016 (e-PCR)
- UniSTS:71964

CST3 (e-PCR)
- UniSTS:480122

SHGC-5971 (e-PCR)
- UniSTS:25223

SHGC-11944 (e-PCR)
- UniSTS:8860

GDB:196339 (e-PCR)
- UniSTS:155831

Genotypes

See CST3 SNP Geneview Report
See CST3 SNP Genotype Report
See CST3 SNP Variation Viewer Report

Homology

Homologs of the CST3 gene: The CST3 gene is conserved in Rhesus monkey, dog, cow, mouse, rat, and chicken.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
beta-amyloid binding	IPI Inferred from Physical Interaction more info	PubMed
cysteine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
protease binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
Sertoli cell development	IEA Inferred from Electronic Annotation more info
apoptotic process	IEA Inferred from Electronic Annotation more info
brain development	IEA Inferred from Electronic Annotation more info
cell activation	IEA Inferred from Electronic Annotation more info
cellular response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
circadian sleep/wake cycle, REM sleep	IEA Inferred from Electronic Annotation more info
defense response	IDA Inferred from Direct Assay more info	PubMed
embryo implantation	IEA Inferred from Electronic Annotation more info
extracellular fibril organization	IGI Inferred from Genetic Interaction more info	PubMed
eye development	IEA Inferred from Electronic Annotation more info
negative regulation of blood vessel remodeling	IEP Inferred from Expression Pattern more info	PubMed
negative regulation of cell death	IEA Inferred from Electronic Annotation more info
negative regulation of collagen catabolic process	IEP Inferred from Expression Pattern more info	PubMed
negative regulation of elastin catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
negative regulation of extracellular matrix disassembly	IEP Inferred from Expression Pattern more info	PubMed
negative regulation of histolysis	IC Inferred by Curator more info	PubMed
negative regulation of peptidase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of DNA replication	IEA Inferred from Electronic Annotation more info
positive regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
regulation of programmed cell death	IEA Inferred from Electronic Annotation more info
regulation of tissue remodeling	IEP Inferred from Expression Pattern more info	PubMed
response to axon injury	IEA Inferred from Electronic Annotation more info
response to carbohydrate stimulus	IEA Inferred from Electronic Annotation more info
response to drug	IEA Inferred from Electronic Annotation more info
response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
response to hypoxia	IEA Inferred from Electronic Annotation more info
response to nutrient levels	IEA Inferred from Electronic Annotation more info
response to toxic substance	IEA Inferred from Electronic Annotation more info
salivary gland development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
axon part	IEA Inferred from Electronic Annotation more info
basement membrane	IEA Inferred from Electronic Annotation more info
contractile fiber	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
extracellular region	IMP Inferred from Mutant Phenotype more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
lysosome	IEA Inferred from Electronic Annotation more info
multivesicular body	IEA Inferred from Electronic Annotation more info
neuronal cell body	IEA Inferred from Electronic Annotation more info
nuclear membrane	IEA Inferred from Electronic Annotation more info
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cystatin-C

Names: cystatin-C; cystatin 3; cystatin-3; gamma-trace; post-gamma-globulin; bA218C14.4 (cystatin C); neuroendocrine basic polypeptide

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.

Genomic

NG_012887.1 RefSeqGene

Range

5001..9281

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000099.2 → NP_000090.1 cystatin-C precursor

Status: REVIEWED

Source sequence(s)

BC013083

Consensus CDS

CCDS13158.1

UniProtKB/Swiss-Prot

P01034

Related

ENSP00000366124, OTTHUMP00000030440, ENST00000376925, OTTHUMT00000078346

Conserved Domains (1) summary

cd00042
Location:37 – 143
Blast Score: 269

CY; Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000020.10 Reference GRCh37.p10 Primary Assembly

Range

23614294..23618574, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000152.1 Alternate HuRef

Range

23574763..23578930, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018931.1 Alternate CHM1_1.0

Range

23563950..23568230, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01016179.1 (38870..42788)	None
genomic	ABBA01016180.1	None
genomic	AL121894.26 (103227..107507)	None
genomic	AMYH01011782.1 (39941..44221)	None
genomic	CH471133.3	EAX10137.1
		EAX10138.1
genomic	CS208043.1	CAJ44947.1
genomic	HB867228.1	CBF57600.1
genomic	M27891.1	AAA52164.1
genomic	X52255.1	CAA36497.1
genomic	X61681.1	CAA43856.2
genomic	X61682.1	None
mRNA	AB587083.1	BAJ83816.1
mRNA	AK312213.1	BAG35146.1
mRNA	BC013083.1	AAH13083.1
mRNA	BC110305.1	AAI10306.1
mRNA	BT006839.1	AAP35485.1
mRNA	BX647523.1	None
mRNA	CR541988.1	CAG46785.1
mRNA	CR542018.1	CAG46815.1
mRNA	X05607.1	CAA29096.1
other-genetic	DQ891439.2	ABM82365.1
other-genetic	EU176584.1	ABW03385.1