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Aliases for CSTA Gene

Aliases for CSTA Gene

  • Cystatin A (Stefin A) 2 3
  • STF1 3 4 6
  • STFA 3 4 6
  • AREI 3 6
  • Cystatin AS 3
  • Cystatin-AS 4
  • Cystatin-A 3
  • Stefin-A 4

External Ids for CSTA Gene

Previous Symbols for CSTA Gene

  • STF1
  • STFA

Summaries for CSTA Gene

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 and exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like. 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 for CSTA Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSTA Gene

Genomics for CSTA Gene

Genomic Location for CSTA Gene

Start:
122,325,164 bp from pter
End:
122,341,972 bp from pter
Size:
16,809 bases
Orientation:
Plus strand

Genomic View for CSTA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CSTA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSTA Gene

Regulatory Elements for CSTA Gene

Proteins for CSTA Gene

  • Protein details for CSTA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01040-CYTA_HUMAN
    Recommended name:
    Cystatin-A
    Protein Accession:
    P01040
    Secondary Accessions:
    • Q6IB90

    Protein attributes for CSTA Gene

    Size:
    98 amino acids
    Molecular mass:
    11006 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CSTA Gene

neXtProt entry for CSTA Gene

Proteomics data for CSTA Gene at MOPED

Post-translational modifications for CSTA Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys37

Other Protein References for CSTA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CSTA Gene

Domains for CSTA Gene

UniProtKB/Swiss-Prot:

CYTA_HUMAN
Family:
  • Belongs to the cystatin family.:
    • P01040
genes like me logo Genes that share domains with CSTA: view

No data available for Gene Families for CSTA Gene

Function for CSTA Gene

Molecular function for CSTA Gene

GENATLAS Biochemistry: cystatin A,cysteine proteinase inhibitor,type 2 family
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for CSTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 6203523
GO:0004869 cysteine-type endopeptidase inhibitor activity IDA 3488317
GO:0005198 structural molecule activity IDA 10908733
GO:0030674 protein binding, bridging IDA 10908733
genes like me logo Genes that share ontologies with CSTA: view

Phenotypes for CSTA Gene

GenomeRNAi human phenotypes for CSTA:
genes like me logo Genes that share phenotypes with CSTA: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CSTA Gene

Localization for CSTA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSTA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CSTA Gene COMPARTMENTS Subcellular localization image for CSTA gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CSTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA 10908733
GO:0005615 extracellular space IDA 3488317
GO:0005622 intracellular --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with CSTA: view

Pathways for CSTA Gene

SuperPathways for CSTA Gene

No Data Available

Gene Ontology (GO) - Biological Process for CSTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IDA 6203523
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0016337 single organismal cell-cell adhesion IMP 21944047
GO:0018149 peptide cross-linking IDA 10908733
GO:0030216 keratinocyte differentiation IDA 10908733
genes like me logo Genes that share ontologies with CSTA: view

No data available for Pathways by source for CSTA Gene

Compounds for CSTA Gene

(15) Novoseek inferred chemical compound relationships for CSTA Gene

Compound -log(P) Hits PubMed IDs
cysteine 81.2 75
actinidin 66.4 1
kininogen 65.1 8
thioflavin t 37.4 1
allergens 31.4 8
genes like me logo Genes that share compounds with CSTA: view

Transcripts for CSTA Gene

mRNA/cDNA for CSTA Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(135) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CSTA Gene

Cystatin A (stefin A):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CSTA Gene

No ASD Table

Relevant External Links for CSTA Gene

GeneLoc Exon Structure for
CSTA
ECgene alternative splicing isoforms for
CSTA

Expression for CSTA Gene

mRNA expression in normal human tissues for CSTA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CSTA Gene

This gene is overexpressed in Esophagus - Mucosa (30.6), Vagina (8.5), and Cervix - Ectocervix (5.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CSTA Gene

SOURCE GeneReport for Unigene cluster for CSTA Gene Hs.518198

mRNA Expression by UniProt/SwissProt for CSTA Gene

P01040-CYTA_HUMAN
Tissue specificity: Expressed in the skin throughout the epidermis.
genes like me logo Genes that share expressions with CSTA: view

Orthologs for CSTA Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSTA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSTA 36
  • 98.98 (n)
  • 100 (a)
CSTA 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CSTA 36
  • 83.33 (n)
  • 75.51 (a)
CSTA 37
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CSTA 36
  • 84.35 (n)
  • 78.57 (a)
CSTA 37
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2010005H15Rik 37
  • 58 (a)
OneToMany
BC100530 37
  • 59 (a)
OneToMany
BC117090 37
  • 59 (a)
OneToMany
Csta 36
  • 74.23 (n)
  • 63.92 (a)
Csta 37
  • 64 (a)
OneToMany
Gm10092 37
  • 49 (a)
OneToMany
Gm4758 37
  • 56 (a)
OneToMany
Gm5416 37
  • 57 (a)
OneToMany
Gm5483 16
Gm5483 37
  • 60 (a)
OneToMany
Gm5689 37
  • 64 (a)
OneToMany
Stfa1 37
  • 57 (a)
OneToMany
Stfa2 37
  • 55 (a)
OneToMany
Stfa2l1 37
  • 54 (a)
OneToMany
Stfa3 37
  • 56 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 53 (a)
OneToMany
-- 37
  • 50 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CSTA 37
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Csta 36
  • 72.51 (n)
  • 62.89 (a)
chicken
(Gallus gallus)
Aves CSTA 36
  • 60.48 (n)
  • 55.67 (a)
CSTA 37
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 52 (a)
OneToMany
-- 37
  • 49 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch211-161h7.6 37
  • 46 (a)
ManyToMany
zgc:153129 37
  • 45 (a)
ManyToMany
zgc:56530 37
  • 44 (a)
ManyToMany
Species with no ortholog for CSTA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CSTA Gene

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

Paralogs for CSTA Gene

Paralogs for CSTA Gene

Selected SIMAP similar genes for CSTA Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CSTA: view

Variants for CSTA Gene

Sequence variations from dbSNP and Humsavar for CSTA Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs17589 -- 122,337,585(+) ACTTA(C/T)GGAAA reference, synonymous-codon
rs2332182 -- 122,323,653(+) CAGTA(A/T)TGCTC upstream-variant-2KB
rs2332183 -- 122,323,663(+) CTGTC(A/G)CCAGG upstream-variant-2KB
rs2877603 -- 122,323,645(+) TTGAG(A/G)CACAG upstream-variant-2KB
rs3792292 -- 122,341,630(+) CTGAT(A/G)AATAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CSTA Gene

Variant ID Type Subtype PubMed ID
esv33139 CNV Loss 17666407

Relevant External Links for CSTA Gene

HapMap Linkage Disequilibrium report
CSTA
Human Gene Mutation Database (HGMD)
CSTA

Disorders for CSTA Gene

(1) OMIM Diseases for CSTA Gene (184600)

UniProtKB/Swiss-Prot

CYTA_HUMAN
  • 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. {ECO:0000269 PubMed:21944047}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(24) Novoseek inferred disease relationships for CSTA Gene

Disease -log(P) Hits PubMed IDs
carcinoma squamous cell 41 11
lung tumor 39.6 3
meningioma 35.1 3
benign prostatic hyperplasia 32.9 4
prostatic intraepithelial neoplasia 29.1 2

Relevant External Links for CSTA

Genetic Association Database (GAD)
CSTA
Human Genome Epidemiology (HuGE) Navigator
CSTA
genes like me logo Genes that share disorders with CSTA: view

Publications for CSTA Gene

  1. The three-dimensional solution structure of human stefin A. (PMID: 7869384) Martin J.R. … Waltho J.P. (J. Mol. Biol. 1995) 3 4 23
  2. 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. (PMID: 7578072) Tate S. … Kainosho M. (Biochemistry 1995) 3 4 23
  3. 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. (PMID: 9651321) Takahashi H. … Iizuka H. (J. Biol. Chem. 1998) 3 4 23
  4. Genomic structure of human cystatin A. (PMID: 9522124) Yamazaki M. … Ogawa H. (DNA Seq. 1997) 3 4 23
  5. Association analysis of cystatin A and zinc finger protein 148, two genes located at the psoriasis susceptibility locus PSORS5. (PMID: 15175029) Samuelsson L. … WahlstrAPm J. (J. Invest. Dermatol. 2004) 3 23 49

Products for CSTA Gene

Sources for CSTA Gene

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