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    CSTA cystatin A [ Homo sapiens (human) ]

    Gene ID: 1475, updated on 8-Aug-2021

    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
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    Genomic context

    See CSTA in Genome Data Viewer
    Location:
    3q21.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (122325248..122341969)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122044095..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 mitochondrial matrix import factor 23 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Common genetic variants associate with serum phosphorus concentration.
    GeneReviews: Not available
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    GeneReviews: Not available
    Peeling skin syndrome 4
    MedGen: C4225407 OMIM: 607936 GeneReviews: Not available
    Compare labs

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cysteine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cornified envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm 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)

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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.

    Genomic

    1. NG_027995.1 RefSeqGene

      Range
      5085..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 Updated Annotation Release 109.20210514

    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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