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    CST1 cystatin SN [ Homo sapiens (human) ]

    Gene ID: 1469, updated on 27-Nov-2024

    Summary

    Official Symbol
    CST1provided by HGNC
    Official Full Name
    cystatin SNprovided by HGNC
    Primary source
    HGNC:HGNC:2473
    See related
    Ensembl:ENSG00000170373 MIM:123855; AllianceGenome:HGNC:2473
    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
    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 a cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward salivary gland (RPKM 7300.7) See more
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    Genomic context

    See CST1 in Genome Data Viewer
    Location:
    20p11.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23747562..23750935, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23807126..23810499, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23728199..23731572, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372574 Neighboring gene uncharacterized LOC124904966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23732812-23733326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23733327-23733840 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:23737199-23737949 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:23745064-23745928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23756477-23756977 Neighboring gene cystatin pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12735 Neighboring gene uncharacterized LOC107985432

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    cystatin-SN
    Names
    cystain-SA-I
    cystatin 1
    cystatin SA-I
    cysteine proteinase inhibitor, type 2 family
    salivary cystatin-SA-1

    NCBI Reference Sequences (RefSeq)

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    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_001898.3NP_001889.2  cystatin-SN precursor

      See identical proteins and their annotated locations for NP_001889.2

      Status: REVIEWED

      Source sequence(s)
      AL591074, BC021225
      Consensus CDS
      CCDS13160.1
      UniProtKB/Swiss-Prot
      P01037, Q96LE6, Q9UCQ6
      Related
      ENSP00000305731.2, ENST00000304749.7
      Conserved Domains (1) summary
      smart00043
      Location:30139
      CY; Cystatin-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      23747562..23750935 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      23807126..23810499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)