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CST3 cystatin C [ Homo sapiens (human) ]

Gene ID: 1471, updated on 26-Nov-2014
Official Symbol
CST3provided by HGNC
Official Full Name
cystatin Cprovided by HGNC
Primary source
HGNC: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. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]
See CST3 in Epigenomics, MapViewer
Location:
20p11.21
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (23627897..23638048, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23608534..23618685, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cystatin 9-like Neighboring gene cystatin 9 (testatin) Neighboring gene cystatin S Neighboring gene cystatin SA pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Age-related macular degeneration 11
MedGen: C2677774 OMIM: 611953 GeneReviews: Not available
Compare labs
Hereditary cerebral amyloid angiopathy, Icelandic type
MedGen: C1527338 OMIM: 105150 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog
Polymorphism of the cystatin C gene in patients with acute coronary syndromes: Results from the PLATelet inhibition and patient Outcomes study.
NHGRI GWA Catalog
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC117328

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 
Component Evidence Code Pubs
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 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
cystatin-C
Names
cystatin-C
cystatin 3
cystatin-3
gamma-trace
post-gamma-globulin
bA218C14.4 (cystatin C)
neuroendocrine basic polypeptide

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

  1. NG_012887.2 

    Range
    4890..15041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000099.3NP_000090.1  cystatin-C precursor

    See proteins identical to NP_000090.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 3' UTR compared to variant 2. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC013083, HY042866
    Consensus CDS
    CCDS13158.1
    UniProtKB/Swiss-Prot
    P01034
    Related
    ENSP00000366124, OTTHUMP00000030440, ENST00000376925, OTTHUMT00000078346
    Conserved Domains (1) summary
    cd00042
    Location:37143
    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.
  2. NM_001288614.1NP_001275543.1  cystatin-C precursor

    See proteins identical to NP_001275543.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer variant. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BF509512, BX647523, HY042866
    Consensus CDS
    CCDS13158.1
    UniProtKB/Swiss-Prot
    P01034
    Conserved Domains (1) summary
    cd00042
    Location:37143
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

    Range
    23627897..23638048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

    Range
    23608570..23618721
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    23569006..23579041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)