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Aliases for CSTA Gene

Aliases for CSTA Gene

  • Cystatin A 2 3 5
  • Cystatin A (Stefin A) 2 3
  • STF1 3 4
  • STFA 3 4
  • Cystatin AS 3
  • Cystatin-AS 4
  • Cystatin-A 3
  • Stefin A 2
  • Stefin-A 4
  • AREI 3
  • PSS4 3

External Ids for CSTA Gene

Previous HGNC Symbols for CSTA Gene

  • STF1
  • STFA

Previous GeneCards Identifiers for CSTA Gene

  • GC03P118765
  • GC03P121992
  • GC03P123325
  • GC03P123364
  • GC03P123526
  • GC03P122044
  • GC03P119417

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) is a Protein Coding gene. Diseases associated with CSTA include Peeling Skin Syndrome 4 and Peeling Skin Syndrome 2. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (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

Additional gene information for CSTA Gene

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

Genomics for CSTA Gene

GeneHancer (GH) Regulatory Elements for CSTA Gene

Promoters and enhancers for CSTA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I122324 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.2 173 1.7 HDGF PKNOX1 CEBPG IRF9 POLR2A ATF7 TRIM24 PRDM10 IKZF2 RUNX3 CSTA LOC102723582 CCDC58
GH03I122326 Enhancer 0.2 dbSUPER 550.8 +1.7 1734 0.7 CSTA CCDC58
GH03I122294 Enhancer 1 FANTOM5 Ensembl ENCODE 13 -30.1 -30063 1.4 ATF4 HLF MAX RUNX3 CSTA WDR5B LOC102723582 PARP14 PARP9 CD86 DIRC2 DTX3L HSPBAP1 HNRNPA1P23
GH03I122313 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 13.4 -10.5 -10492 1.5 HLF MNT CSTA WDR5B CCDC58 FAM162A PARP14 PARP9 DTX3L DIRC2 CD86 KPNA1
GH03I122362 Enhancer 1 ENCODE 11.9 +39.9 39874 4.6 PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 LOC102723582 GOLGB1 IQCB1 SEC22A WDR5B CSTA RPL7AP11 CASR CCDC58
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CSTA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSTA gene promoter:

Genomic Locations for CSTA Gene

Genomic Locations for CSTA Gene
chr3:122,325,164-122,341,972
(GRCh38/hg38)
Size:
16,809 bases
Orientation:
Plus strand
chr3:122,044,011-122,060,819
(GRCh37/hg19)

Genomic View for CSTA Gene

Genes around CSTA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSTA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSTA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for CSTA Gene

  • Ubiquitination at Lys37
  • Modification sites at PhosphoSitePlus

Other Protein References for CSTA Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein Products

No data available for DME Specific Peptides for CSTA Gene

Domains & Families for CSTA Gene

Gene Families for CSTA Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CSTA Gene

Graphical View of Domain Structure for InterPro Entry

P01040

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for CSTA Gene

Gene Ontology (GO) - Molecular Function for CSTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 6203523
GO:0004866 endopeptidase inhibitor activity IEA --
GO:0004869 cysteine-type endopeptidase inhibitor activity IDA,IEA 3488317
GO:0005198 structural molecule activity IDA 10908733
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with CSTA: view
genes like me logo Genes that share phenotypes with CSTA: view

Human Phenotype Ontology for CSTA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

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

Localization for CSTA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSTA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSTA gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 3
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CSTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005615 extracellular space IDA 3488317
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA,IEA 21944047
genes like me logo Genes that share ontologies with CSTA: view

Pathways & Interactions for CSTA Gene

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

Pathways by source for CSTA Gene

Gene Ontology (GO) - Biological Process for CSTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0010466 negative regulation of peptidase activity IDA 6203523
GO:0010951 negative regulation of endopeptidase activity IEA --
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 SIGNOR curated interactions for CSTA Gene

Drugs & Compounds for CSTA Gene

(5) Drugs for CSTA Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Papain Inhibitor Pharma Inhibitor of peptidase activity of Papain 0

(11) Additional Compounds for CSTA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for CSTA Gene

Compound Action Cas Number
Papain Inhibitor Inhibitor of peptidase activity of Papain 70195-20-9
genes like me logo Genes that share compounds with CSTA: view

Drug Products

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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x30.6), Vagina (x8.5), and Cervix - Ectocervix (x5.6).

Protein differential expression in normal tissues from HIPED for CSTA Gene

This gene is overexpressed in Oral epithelium (12.5), Saliva (12.3), Esophagus (9.4), and Tonsil (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CSTA Gene



NURSA nuclear receptor signaling pathways regulating expression of CSTA Gene:

CSTA

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.

Evidence on tissue expression from TISSUES for CSTA Gene

  • Skin(4.7)
  • Bone marrow(4.4)
  • Liver(4.3)
  • Blood(2.8)
  • Lung(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CSTA Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • skin
genes like me logo Genes that share expression patterns with CSTA: view

No data available for Protein tissue co-expression partners for CSTA Gene

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 33 34
  • 98.98 (n)
dog
(Canis familiaris)
Mammalia CSTA 33 34
  • 84.35 (n)
cow
(Bos Taurus)
Mammalia CSTA 33 34
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia Csta 33 34
  • 74.23 (n)
Gm5689 34
  • 64 (a)
OneToMany
Gm5483 16 34
  • 60 (a)
BC100530 34
  • 59 (a)
OneToMany
BC117090 34
  • 59 (a)
OneToMany
2010005H15Rik 34
  • 58 (a)
OneToMany
Gm5416 34
  • 57 (a)
OneToMany
Stfa1 34
  • 57 (a)
OneToMany
Gm4758 34
  • 56 (a)
OneToMany
Stfa3 34
  • 56 (a)
OneToMany
Stfa2 34
  • 55 (a)
OneToMany
Stfa2l1 34
  • 54 (a)
OneToMany
Gm10092 34
  • 49 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Csta 33
  • 72.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CSTA 34
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 53 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves CSTA 33 34
  • 60.48 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 52 (a)
OneToMany
-- 34
  • 49 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch211-161h7.6 34
  • 46 (a)
ManyToMany
zgc:153129 34
  • 45 (a)
ManyToMany
zgc:56530 34
  • 44 (a)
ManyToMany
Species where no ortholog for CSTA was found in the sources mined by GeneCards:
  • 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

(1) 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 Variation AA Info Type
rs149474339 pathogenic, Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like 122,341,442(+) C/T coding_sequence_variant, stop_gained
rs387906689 pathogenic, Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like 122,341,526(+) C/T coding_sequence_variant, stop_gained
rs398122804 pathogenic, Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like 122,337,545(+) A/T splice_acceptor_variant
rs747711488 pathogenic, Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like 122,325,356(+) A/T coding_sequence_variant, stop_gained
rs1000509694 -- 122,341,480(+) C/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv33139 CNV loss 17666407

Variation tolerance for CSTA Gene

Residual Variation Intolerance Score: 71.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.45; 71.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSTA Gene

Human Gene Mutation Database (HGMD)
CSTA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSTA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSTA Gene

Disorders for CSTA Gene

MalaCards: The human disease database

(6) MalaCards diseases for CSTA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peeling skin syndrome 4
  • pss4
peeling skin syndrome 2
  • pss2
exfoliative ichthyosis
  • autosomal recessive exfoliative ichthyosis
peeling skin syndrome
  • exfoliation syndrome
ichthyosis bullosa of siemens
  • ibs
- elite association - COSMIC cancer census association via MalaCards
Search CSTA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CYTA_HUMAN
  • Peeling skin syndrome 4 (PSS4) [MIM:607936]: A genodermatosis characterized by congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. PSS4 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.

Additional Disease Information for CSTA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CSTA: view

No data available for Genatlas for CSTA Gene

Publications for CSTA Gene

  1. Association analysis of the skin barrier gene cystatin A at the PSORS5 locus in psoriatic patients: evidence for interaction between PSORS1 and PSORS5. (PMID: 18364739) Vasilopoulos Y … Tazi-Ahnini R (European journal of human genetics : EJHG 2008) 3 22 44 58
  2. Association analysis of cystatin A and zinc finger protein 148, two genes located at the psoriasis susceptibility locus PSORS5. (PMID: 15175029) Samuelsson L … Wahlström J (The Journal of investigative dermatology 2004) 3 22 44 58
  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 (The Journal of biological chemistry 1998) 3 4 22 58
  4. Genomic structure of human cystatin A. (PMID: 9522124) Yamazaki M … Ogawa H (DNA sequence : the journal of DNA sequencing and mapping 1997) 3 4 22 58
  5. 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 22 58

Products for CSTA Gene

Sources for CSTA Gene

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