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    CSTA cystatin A [ Homo sapiens (human) ]

    Gene ID: 1475, updated on 17-Jun-2019

    Summary

    Official Symbol
    CSTAprovided by HGNC
    Official Full Name
    cystatin Aprovided by HGNC
    Primary source
    HGNC:HGNC:2481
    See related
    Ensembl:ENSG00000121552 MIM:184600
    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
    AREI; PSS4; STF1; STFA
    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 a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in esophagus (RPKM 1149.9), skin (RPKM 100.5) and 1 other tissue See more
    Orthologs

    Genomic context

    See CSTA in Genome Data Viewer
    Location:
    3q21.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (122325248..122341969)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122044011..122060816)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene calcium sensing receptor Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 23 Neighboring gene HNF4 motif-containing MPRA enhancer 1/2 Neighboring gene coiled-coil domain containing 58 Neighboring gene family with sequence similarity 162 member A Neighboring gene WD repeat domain 5B

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
    MedGen: C4225407 OMIM: 607936 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common genetic variants associate with serum phosphorus concentration.
    NHGRI GWA Catalog
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
      Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cysteine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cornification TAS
    Traceable Author Statement
    more info
     
    keratinocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    peptide cross-linking IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cornified envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cornified envelope TAS
    Traceable Author Statement
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    cystatin-A
    Names
    cystatin A (stefin A)
    cystatin AS

    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.

    Genomic

    1. NG_027995.1 RefSeqGene

      Range
      5001..21806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005213.4NP_005204.1  cystatin-A

      See identical proteins and their annotated locations for NP_005204.1

      Status: REVIEWED

      Source sequence(s)
      AV716538, AV717631, BC010379, BG213814
      Consensus CDS
      CCDS3011.1
      UniProtKB/Swiss-Prot
      P01040
      Related
      ENSP00000264474.3, ENST00000264474.4
      Conserved Domains (1) summary
      pfam00031
      Location:492
      Cystatin; Cystatin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      122325248..122341969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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