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    CST3 cystatin C [ Homo sapiens (human) ]

    Gene ID: 1471, updated on 6-Aug-2017
    Official Symbol
    CST3provided by HGNC
    Official Full Name
    cystatin Cprovided by HGNC
    Primary source
    HGNC:HGNC:2475
    See related
    Ensembl:ENSG00000101439 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

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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...
    • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from WikiPathways)
      Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • 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.
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • 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
    amyloid-beta 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 
    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
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    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
     
    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 cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of elastin catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of extracellular matrix disassembly IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of extracellular matrix disassembly IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    negative regulation of peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol 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
     
    supramolecular fiber organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    axon 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 lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    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
     
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    cystatin-C
    Names
    bA218C14.4 (cystatin C)
    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
      ENSP00000366124.3, OTTHUMP00000030440, ENST00000376925.7, 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
      ENSP00000381448.1, OTTHUMP00000164181, ENST00000398411.5, OTTHUMT00000256831
      Conserved Domains (1) summary
      smart00043
      Location:34144
      CY; Cystatin-like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    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)
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