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CSTA Gene

protein-coding   GIFtS: 64
GCID: GC03P122044

Cystatin A (Stefin A)


(Previous symbols: STF1, STFA)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cystatin A (Stefin A)1 2     Cystatin AS2
STF11 2 3 5     cystatin-A2
STFA1 2 3 5     Cystatin-AS3
AREI2 5     Stefin-A3

External Ids:    HGNC: 24811   Entrez Gene: 14752   Ensembl: ENSG000001215527   OMIM: 1846005   UniProtKB: P010403   

Export aliases for CSTA gene to outside databases

Previous GC identifers: GC03P118765 GC03P121992 GC03P123325 GC03P123364 GC03P123526 GC03P119417


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CSTA Gene:
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)

GeneCards Summary for CSTA Gene:
CSTA (cystatin A (stefin A)) is a protein-coding gene. Diseases associated with CSTA include exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like, and angioimmunoblastic t-cell lymphoma. GO annotations related to this gene include structural molecule activity and protein binding, bridging. An important paralog of this gene is CSTB.

UniProtKB/Swiss-Prot: CYTA_HUMAN, P01040
Function: This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated
cell-cell adhesion in the lower levels of the epidermis

Gene Wiki entry for CSTA (Cystatin A) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CSTA gene promoter:
         HOXA9   GR   AML1a   Tal-1beta   Evi-1   GATA-1   E47   IRF-2   GR-alpha   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCSTA promoter sequence
   Search Chromatin IP Primers for CSTA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CSTA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21   Ensembl cytogenetic band:  3q21.1   HGNC cytogenetic band: 3q21

CSTA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSTA gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P122044:  view genomic region     (about GC identifiers)

Start:
122,044,011 bp from pter      End:
122,060,819 bp from pter
Size:
16,809 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CYTA_HUMAN, P01040 (See protein sequence)
Recommended Name: Cystatin-A  
Size: 98 amino acids; 11006 Da
Selected PDB 3D structures from and Proteopedia for CSTA (see all 12):
1CYU (3D)        1CYV (3D)        1DVC (3D)        1DVD (3D)        1GD3 (3D)        1GD4 (3D)    
Secondary accessions: Q6IB90

Explore the universe of human proteins at neXtProt for CSTA: NX_P01040

Explore proteomics data for CSTA at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys37
  • Modification sites at PhosphoSitePlus

  • See CSTA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005204.1  
    ENSEMBL proteins: 
     ENSP00000264474   ENSP00000418891  

    CSTA Human Recombinant Protein Products:

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    OriGene MassSpec for CSTA
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    Novus Biologicals CSTA Proteins
    Novus Biologicals CSTA Lysate
    Sino Biological Recombinant Protein for CSTA
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CSTA
    Cloud-Clone Corp. Proteins for CSTA

    CSTA Antibody Products:

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    Abcam antibodies for CSTA
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    LSBio Antibodies in human, mouse, rat for CSTA

    CSTA Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CSTA
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CSTA
    Cloud-Clone Corp. CLIAs for CSTA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001713 Prot_inh_stefinA
     IPR018073 Prot_inh_cystat_CS
     IPR000010 Prot_inh_cystat

    Graphical View of Domain Structure for InterPro Entry P01040

    ProtoNet protein and cluster: P01040

    2 Blocks protein domains:
    IPB000010 Cysteine protease inhibitor
    IPB001713 Stefin A signature


    UniProtKB/Swiss-Prot: CYTA_HUMAN, P01040
    Similarity: Belongs to the cystatin family


    CSTA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CYTA_HUMAN, P01040
    Function: This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated
    cell-cell adhesion in the lower levels of the epidermis

         Genatlas biochemistry entry for CSTA:
    cystatin A,cysteine proteinase inhibitor,type 2 family

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI6203523
    GO:0004869cysteine-type endopeptidase inhibitor activity IDA6203523
    GO:0005198structural molecule activity IDA10908733
    GO:0030674protein binding, bridging IDA10908733
         
    CSTA for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CSTA:
     Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CSTA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CSTA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CSTA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CSTA

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat CSTA using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CSTA:
    hsa-miR-575 hsa-miR-580
    SwitchGear 3'UTR luciferase reporter plasmidCSTA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CSTA
    Predesigned siRNA for gene silencing in human, mouse, rat CSTA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CSTA

    Clone
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    OriGene clones in human, mouse for CSTA (see all 6)
    OriGene ORF clones in mouse, rat for CSTA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CSTA (NM_005213)
    Sino Biological Human cDNA Clone for CSTA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSTA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSTA

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CSTA
    Browse ESI BIO Cell Lines and PureStem Progenitors for CSTA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSTA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CYTA_HUMAN, P01040: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus4
    cytosol3
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001533cornified envelope IDA10908733
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--

    CSTA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CSTA
    Interactions:

        GeneGlobe Interaction Network for CSTA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for CSTA (P010402, 3 ENSP000002644744) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTNP212462, 3MINT-63344 I2D: score=4 
    CTSBP078582, 3, ENSP000003420704MINT-7990451 I2D: score=4 STRING: ENSP00000342070
    LORP234903, ENSP000003577314I2D: score=1 STRING: ENSP00000357731
    PI3P199573, ENSP000002439244I2D: score=1 STRING: ENSP00000243924
    CTSLP077113, ENSP000003453444I2D: score=3 STRING: ENSP00000345344
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010466negative regulation of peptidase activity IDA6203523
    GO:0010951negative regulation of endopeptidase activity IDA6203523
    GO:0016337cell-cell adhesion IMP--
    GO:0018149peptide cross-linking IDA10908733
    GO:0030216keratinocyte differentiation IDA10908733

    CSTA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CSTA (CYTA)

    Selected Novoseek inferred chemical compound relationships for CSTA gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 81.2 91 9182808 (3), 10215884 (3), 17208452 (3), 2097084 (2) (see all 57)
    actinidin 66.4 1 7575465 (1)
    kininogen 65.1 10 1801728 (2), 7872798 (1), 2237263 (1), 2107324 (1) (see all 7)
    thioflavin t 37.4 1 16342276 (1)
    allergens 31.4 12 18087159 (4), 19933866 (3), 15990791 (1)
    leupeptin 30.6 1 1316092 (1)
    trifluoroethanol 28.7 7 10398367 (5)
    matrigel 21.2 1 16361563 (1)
    12-o-tetradecanoylphorbol 13-acetate 21.1 2 12682854 (1), 11451947 (1)
    tyrosine 0 1 1859820 (1)



    CSTA for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CSTA gene: 
    NM_005213.3  

    Unigene Cluster for CSTA:

    Cystatin A (stefin A)
    Hs.518198  [show with all ESTs]
    Unigene Representative Sequence: CD520285
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264474(uc003eex.3) ENST00000479204

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CSTA using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CSTA:
    hsa-miR-575 hsa-miR-580
    SwitchGear 3'UTR luciferase reporter plasmidCSTA 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CSTA
    Predesigned siRNA for gene silencing in human, mouse, rat CSTA
    Clone
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    OriGene clones in human, mouse for CSTA (see all 6)
    OriGene ORF clones in mouse, rat for CSTA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CSTA (NM_005213)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSTA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSTA
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CSTA
    OriGene qSTAR qPCR primer pairs in human, mouse for CSTA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CSTA
      QuantiTect SYBR Green Assays in human, mouse, rat CSTA
      QuantiFast Probe-based Assays in human, mouse, rat CSTA

    Additional mRNA sequence: 

    AK291308.1 BC010379.1 CR456914.1 X05978.1 

    6 DOTS entries:

    DT.412417  DT.91989276  DT.91829137  DT.92015891  DT.95309312  DT.92391909 

    Selected AceView cDNA sequences (see all 135):

    W77844 AW014844 AA022874 BM955512 BX477597 BX397459 AA583844 BM969426 
    BG695875 AW269920 BC010379 CB126035 BM955513 CR456914 BG215462 AA022873 
    BM955514 W57890 AI341609 AI912811 AW275102 AA583725 X05978 AW265261 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CSTA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCCTTGCTG
    CSTA Expression
    About this image


    CSTA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Monocytes Peripheral Blood
             Bone marrow-derived hematopoietic stem cells (family)
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
     
     Heart (Cardiovascular System)
    CSTA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CSTA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518198

    UniProtKB/Swiss-Prot: CYTA_HUMAN, P01040
    Tissue specificity: Expressed in the skin throughout the epidermis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSTA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CSTA gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm54835
    Csta1
    predicted gene 54835
    cystatin A1
    74.23(n)1
    63.92(a)1
      16 (25.43 cM)5
    2092941  NM_001033239.31  NP_001028411.11 
     361842125 
    chicken
    (Gallus gallus)
    Aves CSTA1 cystatin A (stefin A) 60.48(n)
    55.67(a)
      418268  XM_416493.4  XP_416493.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    52(a)
    49(a)
    many → 1
    many → 1
    2(76570031-76573317)
    2(76603905-76611629)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-161h7.66
    zgc:1531296
    (see all 3)
    zgc:153129
    (see all 3)
    46(a)
    45(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    24(21525203-21526864) ENSDARG00000028164
    5(4447662-4456545) ENSDARG00000045980


    ENSEMBL Gene Tree for CSTA (if available)
    TreeFam Gene Tree for CSTA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CSTA gene
    CSTB2  
    1 SIMAP similar gene for CSTA using alignment to 2 protein entries:     CYTA_HUMAN (see all proteins):
    CSTB

    CSTA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CSTA (see all 451)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1928548131,2
    --122009853(+) AGTGGA/CCTATG 1 -- us2k10--------
    rs1451754771,2
    --122009879(+) TCTTCA/TGATGA 1 -- us2k10--------
    rs1846547871,2
    --122010014(+) CTTAGA/CTCCAA 1 -- us2k10--------
    rs1466549711,2
    --122010169(+) AACCTA/GTATAG 1 -- us2k10--------
    rs1402273791,2
    --122010177(+) TAGATA/GAATAT 1 -- us2k10--------
    rs622691381,2
    --122010203(+) TGTGCA/GTGTGT 1 -- us2k10--------
    rs347794511,2
    C--122010218(+) GCCAA-/TTTTTT 1 -- us2k10--------
    rs28776031,2
    C,F--122010243(+) TTGAGG/ACACAG 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs23321821,2
    C,F--122010251(+) CAGTAT/ATGCTC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs23321831,2
    C,A,H--122010261(+) CTGTCG/ACCAGG 1 -- us2k14Minor allele frequency- A:0.00NA 10

    HapMap Linkage Disequilibrium report for CSTA (122044011 - 122060819 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CSTA:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33139CNV Loss17666407

    Human Gene Mutation Database (HGMD): CSTA
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CSTA
    DNA2.0 Custom Variant and Variant Library Synthesis for CSTA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 184600   
    OMIM disorders: 607936  
    UniProtKB/Swiss-Prot: CYTA_HUMAN, P01040
  • Ichthyosis, exfoliative, autosomal recessive, ichthyosis bullosa of Siemens-like (AREI) [MIM:607936]: A
    form of congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular
    epidermolytic ichthyosis. AREI presents shortly after birth as dry, scaly skin over most of the body with coarse
    peeling of non-erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor
    trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the
    epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of
    tonofilaments in the basal keratinocytes. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • Selected diseases for CSTA (see all 43):    
    About MalaCards
    exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like    angioimmunoblastic t-cell lymphoma    ichthyosis bullosa of siemens    inverted papilloma
    prostate adenocarcinoma    squamous cell carcinoma of the head and neck    tonsillitis    otitis media
    papilloma    vaginitis    laryngeal carcinoma    meningioma
    skin disease    psoriasis    periodontal disease    dermatitis
    periodontitis    laryngitis    gingivitis    liver cirrhosis


    CSTA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CSTA gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma squamous cell 41 13 16361563 (3), 12392065 (2), 1326833 (2), 8824783 (1) (see all 7)
    lung tumor 39.6 3 9330706 (2), 8014475 (1)
    meningioma 35.1 3 19747051 (2), 12160137 (1)
    benign prostatic hyperplasia 32.9 6 10652560 (1), 11536307 (1), 17595755 (1), 12539227 (1)
    prostatic intraepithelial neoplasia 29.1 2 17595755 (1), 12539227 (1)
    tumors 22.6 31 17595755 (3), 16361563 (3), 9065652 (2), 8014475 (2) (see all 17)
    psoriasis 22.2 3 15175029 (2), 15187321 (1)
    metastasis 19.3 17 17985332 (5), 16361563 (4), 12392065 (1), 8014475 (1) (see all 7)
    dermatitis atopic 19.2 6 18087159 (2), 17441792 (2), 8844122 (1)
    prostatic adenocarcinoma 17.1 1 12539227 (1)

    Genetic Association Database (GAD): CSTA
    Human Genome Epidemiology (HuGE) Navigator: CSTA (5 documents)

    Export disorders for CSTA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CSTA gene, integrated from 10 sources (see all 208):
    (articles sorted by number of sources associating them with CSTA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Solution structure of a human cystatin A variant, cystatin A2-98 M65L, by NMR spectroscopy. A possible role of the interactions between the N- and C-termini to maintain the inhibitory active form of cystatin A. (PubMed id 7578072)1, 2, 9 Tate S.... Kainosho M. (Biochemistry 1995)
    2. The three-dimensional solution structure of human stefin A. (PubMed id 7869384)1, 2, 9 Martin J.R.... Waltho J.P. (J. Mol. Biol. 1995)
    3. Association analysis of the skin barrier gene cystatin A at the PSORS5 locus in psoriatic patients: evidence for interaction between PSORS1 and PSORS5. (PubMed id 18364739)1, 4, 9 Vasilopoulos Y....Tazi-Ahnini R. (Eur. J. Hum. Genet. 2008)
    4. Genomic structure of human cystatin A. (PubMed id 9522124)1, 2, 9 Yamazaki M.... Ogawa H. (DNA Seq. 1997)
    5. Association analysis of cystatin A and zinc finger protein 148, two genes located at the psoriasis susceptibility locus PSORS5. (PubMed id 15175029)1, 4, 9 Samuelsson L....WahlstrAPm J. (J. Invest. Dermatol. 2004)
    6. Structure and transcriptional regulation of the human cystatin A gene. The 12-o-tetradecanoylphorbol-13-acetate (tpa) responsive element-2 site (-272 to -278) on cystatin a gene is critical for tpa- dependent regulation. (PubMed id 9651321)1, 2, 9 Takahashi H....Iizuka H. (J. Biol. Chem. 1998)
    7. Molecular cloning, occurrence, and expression of a novel partially secreted protein 'psoriasin' that is highly up-regulated in psoriatic skin. (PubMed id 1940442)1, 2, 9 Madsen P.... Celis J.E. (J. Invest. Dermatol. 1991)
    8. Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. (PubMed id 21944047)1, 2 Blaydon D.C.... Kelsell D.P. (Am. J. Hum. Genet. 2011)
    9. Common genetic variants associate with serum phosphorus concentration. (PubMed id 20558539)1, 4 Kestenbaum B....Fox C.S. (J. Am. Soc. Nephrol. 2010)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1475 HGNC: 2481 AceView: CSTA Ensembl:ENSG00000121552 euGenes: HUgn1475
    ECgene: CSTA H-InvDB: CSTA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CSTA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CSTA Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CSTA gene:
    Search GeneIP for patents involving CSTA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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