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    CST11 cystatin 11 [ Homo sapiens (human) ]

    Gene ID: 140880, updated on 8-Oct-2018

    Summary

    Official Symbol
    CST11provided by HGNC
    Official Full Name
    cystatin 11provided by HGNC
    Primary source
    HGNC:HGNC:15959
    See related
    Ensembl:ENSG00000125831 MIM:609731; Vega:OTTHUMG00000032060
    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
    SC13; CST8L; CTES2; dJ322G13.6
    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. 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 an epididymal-specific protein shown to have antimicrobial activity against E. coli. Alternative splicing yields two variants encoding distinct isoforms. [provided by RefSeq, Sep 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See CST11 in Genome Data Viewer
    Location:
    20p11.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (23450404..23452845, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23431041..23433482, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 479 Neighboring gene NSF attachment protein beta Neighboring gene cystatin like 1 Neighboring gene cystatin 12, pseudogene Neighboring gene cystatin 8

    Genomic regions, transcripts, and products

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    androgen receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    defense response to Gram-negative bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    defense response to Gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    killing of cells of other organism IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sperm flagellum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sperm head IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sperm head IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cystatin-11
    Names
    SC13delta
    cystatin-related epididymal-specific protein
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_080830.2NP_543020.2  cystatin-11 isoform 2 precursor

      See identical proteins and their annotated locations for NP_543020.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. The encoded isoform (2) is missing an internal segment, which results in a C-terminal truncation of the cystatin domain compared to isoform 1.
      Source sequence(s)
      AF335481
      Consensus CDS
      CCDS13154.1
      UniProtKB/Swiss-Prot
      Q9H112
      Related
      ENSP00000366206.3, OTTHUMP00000030422, ENST00000377007.3, OTTHUMT00000078315
      Conserved Domains (1) summary
      cl09238
      Location:3678
      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_130794.1NP_570612.1  cystatin-11 isoform 1 precursor

      See identical proteins and their annotated locations for NP_570612.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest transcript, encoding the full-length isoform (1).
      Source sequence(s)
      AF335480
      Consensus CDS
      CCDS13155.1
      UniProtKB/Swiss-Prot
      Q9H112
      Related
      ENSP00000366208.3, OTTHUMP00000030421, ENST00000377009.7, OTTHUMT00000078314
      Conserved Domains (1) summary
      smart00043
      Location:53135
      CY; Cystatin-like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

      Range
      23450404..23452845 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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