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CST3 cystatin C [ Homo sapiens (human) ]

Gene ID: 1471, updated on 19-Jul-2016
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; HEL-S-2
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]
Orthologs
Location:
20p11.21
Exon count:
4
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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 pseudogene 2 Neighboring gene cystatin 9 Neighboring gene uncharacterized LOC107985383 Neighboring gene uncharacterized LOC105372573

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

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with CST3 PubMed
capsid gag HIV-1 capsid interacts with CST3 PubMed
integrase gag-pol HIV-1 integrase interacts with CST3 PubMed
retropepsin gag-pol HIV-1 protease activity is inhibited by CST3 PubMed
gag-pol HIV-1 protease interacts with CST3 PubMed

Go to the HIV-1, Human Interaction Database

  • Amyloid fiber formation, organism-specific biosystem (from REACTOME)
    Amyloid fiber formation, organism-specific biosystemAmyloid is a term used to describe deposits of fibrillar proteins, typically extracellular. The abnormal accumulation of amyloid, amyloidosis, is a term associated with tissue damage caused by amyloi...
  • 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...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • 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 
identical protein binding IPI
Inferred from Physical Interaction
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 exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix 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 
Preferred Names
cystatin-C
Names
bA218C14.4 (cystatin C)
cystatin 3
cystatin-3
epididymis secretory protein Li 2
gamma-trace
neuroendocrine basic polypeptide
post-gamma-globulin

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 RefSeqGene

    Range
    4890..9281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for 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
    UniProtKB/TrEMBL
    A0A0K0K1J1
    Related
    ENSP00000366124, OTTHUMP00000030440, ENST00000376925, OTTHUMT00000078346
    Conserved Domains (1) summary
    smart00043
    Location:34144
    CY; Cystatin-like domain
  2. NM_001288614.1NP_001275543.1  cystatin-C precursor

    See identical proteins and their annotated locations for 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
    UniProtKB/TrEMBL
    A0A0K0K1J1
    Related
    ENSP00000381448, OTTHUMP00000164181, ENST00000398411, OTTHUMT00000256831
    Conserved Domains (1) summary
    smart00043
    Location:34144
    CY; Cystatin-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

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