Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    CSTB cystatin B (stefin B) [ Homo sapiens (human) ]

    Gene ID: 1476, updated on 27-Jun-2015
    Official Symbol
    CSTBprovided by HGNC
    Official Full Name
    cystatin B (stefin B)provided by HGNC
    Primary source
    HGNC:HGNC:2482
    See related
    HPRD:03091; MIM:601145
    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
    PME; ULD; CST6; EPM1; STFB; EPM1A
    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 kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). [provided by RefSeq, Jul 2008]
    Orthologs
    See CSTB in Epigenomics, MapViewer
    Location:
    21q22.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 21 NC_000021.9 (43773665..43776375, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45193546..45196256, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ribosomal RNA processing 1B Neighboring gene pyridoxal (pyridoxine, vitamin B6) kinase Neighboring gene uncharacterized protein C21orf124 Neighboring gene uncharacterized LOC105372825 Neighboring gene transmembrane protein 97 pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endopeptidase activity TAS
    Traceable Author Statement
    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 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    cystatin-B
    Names
    cystatin-B
    CPI-B
    liver thiol proteinase inhibitor

    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_011545.1 RefSeqGene

      Range
      5004..7714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_485

    mRNA and Protein(s)

    1. NM_000100.3NP_000091.1  cystatin-B

      See identical proteins and their annotated locations for NP_000091.1

      Status: REVIEWED

      Source sequence(s)
      AP001053, BC003370, BX419549, CD364415
      Consensus CDS
      CCDS13701.1
      UniProtKB/Swiss-Prot
      P04080
      UniProtKB/TrEMBL
      Q76LA1
      Conserved Domains (1) summary
      cd00042
      Location:479
      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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p2 Primary Assembly

      Range
      43773665..43776375
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      44754030..44756740
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)