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Aliases for CST1 Gene

Aliases for CST1 Gene

  • Cystatin SN 2 3 5
  • Salivary Cystatin-SA-1 3 4
  • Cystain-SA-I 3 4
  • Cysteine Proteinase Inhibitor, Type 2 Family 3
  • Cystatin SA-I 3
  • Cystatin-SN 3
  • Cystatin 1 3
  • Cystatin-1 4

External Ids for CST1 Gene

Previous GeneCards Identifiers for CST1 Gene

  • GC20M023716
  • GC20M023676
  • GC20M023723
  • GC20M023687

Summaries for CST1 Gene

Entrez Gene Summary for CST1 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 the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid. [provided by RefSeq, Jul 2008]

GeneCards Summary for CST1 Gene

CST1 (Cystatin SN) is a Protein Coding gene. Diseases associated with CST1 include Dental Caries. Among its related pathways are Salivary secretion. GO annotations related to this gene include cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is CST4.

UniProtKB/Swiss-Prot for CST1 Gene

  • Human saliva appears to contain several cysteine proteinase inhibitors that are immunologically related to cystatin S but that differ in their specificity due to amino acid sequence differences. Cystatin SN, with a pI of 7.5, is a much better inhibitor of papain and dipeptidyl peptidase I than is cystatin S, although both inhibit ficin equally well.

Gene Wiki entry for CST1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CST1 Gene

Genomics for CST1 Gene

Regulatory Elements for CST1 Gene

Enhancers for CST1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F023692 0.9 Ensembl ENCODE 9.2 +58.0 58020 1.3 JUN MNT FOS CST9 CST1 CST3 CST4 CST2P1
GH20F023754 1.2 Ensembl ENCODE 0.8 -3.9 -3939 1.2 JUN MNT FOS CST3 CST1 PIR40448
GH20F023764 0.2 ENCODE 0.4 -13.7 -13683 0.6 ETS1 CST3 PIR40448 CST1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CST1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CST1 Gene

Chromosome:
20
Start:
23,747,553 bp from pter
End:
23,751,268 bp from pter
Size:
3,716 bases
Orientation:
Minus strand

Genomic View for CST1 Gene

Genes around CST1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CST1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CST1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CST1 Gene

Proteins for CST1 Gene

  • Protein details for CST1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01037-CYTN_HUMAN
    Recommended name:
    Cystatin-SN
    Protein Accession:
    P01037
    Secondary Accessions:
    • Q96LE6
    • Q9UCQ6

    Protein attributes for CST1 Gene

    Size:
    141 amino acids
    Molecular mass:
    16388 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CST1 Gene

Post-translational modifications for CST1 Gene

No Post-translational modifications

Other Protein References for CST1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CST1 Gene

Domains & Families for CST1 Gene

Gene Families for CST1 Gene

Suggested Antigen Peptide Sequences for CST1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01037

UniProtKB/Swiss-Prot:

CYTN_HUMAN :
  • Belongs to the cystatin family.
Family:
  • Belongs to the cystatin family.
genes like me logo Genes that share domains with CST1: view

Function for CST1 Gene

Molecular function for CST1 Gene

GENATLAS Biochemistry:
cystatin SN,cysteine proteinase inhibitor,type 2 family
UniProtKB/Swiss-Prot Function:
Human saliva appears to contain several cysteine proteinase inhibitors that are immunologically related to cystatin S but that differ in their specificity due to amino acid sequence differences. Cystatin SN, with a pI of 7.5, is a much better inhibitor of papain and dipeptidyl peptidase I than is cystatin S, although both inhibit ficin equally well.

Gene Ontology (GO) - Molecular Function for CST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IBA --
GO:0004869 cysteine-type endopeptidase inhibitor activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with CST1: view
genes like me logo Genes that share phenotypes with CST1: view

Animal Model Products

miRNA for CST1 Gene

miRTarBase miRNAs that target CST1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CST1 Gene

Localization for CST1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CST1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CST1 Gene COMPARTMENTS Subcellular localization image for CST1 gene
Compartment Confidence
extracellular 5
nucleus 3
cytosol 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 22664934
genes like me logo Genes that share ontologies with CST1: view

Pathways & Interactions for CST1 Gene

SuperPathways for CST1 Gene

SuperPathway Contained pathways
1 Salivary secretion
genes like me logo Genes that share pathways with CST1: view

Pathways by source for CST1 Gene

1 KEGG pathway for CST1 Gene

Interacting Proteins for CST1 Gene

Gene Ontology (GO) - Biological Process for CST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste IDA 24248522
GO:0010466 negative regulation of peptidase activity IEA --
GO:2000117 negative regulation of cysteine-type endopeptidase activity IBA --
genes like me logo Genes that share ontologies with CST1: view

No data available for SIGNOR curated interactions for CST1 Gene

Drugs & Compounds for CST1 Gene

(1) Drugs for CST1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for CST1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CST1: view

Transcripts for CST1 Gene

mRNA/cDNA for CST1 Gene

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

Unigene Clusters for CST1 Gene

Cystatin SN:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CST1 Gene

No ASD Table

Relevant External Links for CST1 Gene

GeneLoc Exon Structure for
CST1
ECgene alternative splicing isoforms for
CST1

Expression for CST1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CST1 Gene

mRNA differential expression in normal tissues according to GTEx for CST1 Gene

This gene is overexpressed in Prostate (x19.2), Nerve - Tibial (x18.1), and Skin - Not Sun Exposed (Suprapubic) (x5.5).

Protein differential expression in normal tissues from HIPED for CST1 Gene

This gene is overexpressed in Skin (34.8), Salivary gland (22.8), and Saliva (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CST1 Gene



Protein tissue co-expression partners for CST1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CST1 Gene:

CST1

SOURCE GeneReport for Unigene cluster for CST1 Gene:

Hs.123114

mRNA Expression by UniProt/SwissProt for CST1 Gene:

P01037-CYTN_HUMAN
Tissue specificity: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in saliva, tears, urine and seminal fluid.
genes like me logo Genes that share expression patterns with CST1: view

Primer Products

Orthologs for CST1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CST1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CST1 34 35
  • 97.4 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 54 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CST3 35
  • 52 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 42 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cst10 35
  • 39 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 34 (a)
OneToMany
chicken
(Gallus gallus)
Aves gga-mir-3526 35
  • 39 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 40 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii cst3 35
  • 32 (a)
ManyToMany
Species where no ortholog for CST1 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)
  • rat (Rattus norvegicus)
  • 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 CST1 Gene

ENSEMBL:
Gene Tree for CST1 (if available)
TreeFam:
Gene Tree for CST1 (if available)

Paralogs for CST1 Gene

Paralogs for CST1 Gene

(10) SIMAP similar genes for CST1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CST1: view

Variants for CST1 Gene

Sequence variations from dbSNP and Humsavar for CST1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1048314 -- 23,747,596(-) CACAC(A/C)CCCCC utr-variant-3-prime
rs111288315 -- 23,748,547(+) CACAG(C/T)TGCTT intron-variant
rs111291244 -- 23,752,347(+) TTCAG(G/T)CTCCT upstream-variant-2KB
rs111447595 -- 23,752,630(+) CCCAG(C/G)AATGG upstream-variant-2KB
rs111801460 -- 23,748,636(+) GCAAA(A/T)CAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CST1 Gene

Variant ID Type Subtype PubMed ID
dgv4286n100 CNV gain 25217958
dgv4287n100 CNV loss 25217958
dgv653e201 CNV deletion 23290073
dgv654e201 CNV deletion 23290073
esv2667835 CNV deletion 23128226
esv2722303 CNV deletion 23290073
esv2722309 CNV deletion 23290073
esv2762067 CNV loss 21179565
esv33509 CNV gain 17666407
esv3645531 CNV loss 21293372
esv3893321 CNV gain+loss 25118596
esv3893322 CNV gain 25118596
nsv1060720 CNV loss 25217958
nsv1112348 CNV deletion 24896259
nsv1125860 CNV deletion 24896259
nsv1138928 CNV deletion 24896259
nsv1151605 CNV deletion 26484159
nsv458952 CNV gain 19166990
nsv458953 CNV loss 19166990
nsv515880 CNV loss 19592680
nsv518208 CNV gain 19592680
nsv585725 CNV gain 21841781
nsv585727 CNV loss 21841781
nsv965862 CNV duplication 23825009

Variation tolerance for CST1 Gene

Residual Variation Intolerance Score: 83.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CST1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CST1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CST1 Gene

Disorders for CST1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CST1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dental caries
  • dental caries extending into pulp
- elite association - COSMIC cancer census association via MalaCards
Search CST1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CST1

Genetic Association Database (GAD)
CST1
Human Genome Epidemiology (HuGE) Navigator
CST1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CST1
genes like me logo Genes that share disorders with CST1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CST1 Gene

Publications for CST1 Gene

  1. Identification of full-sized forms of salivary (S-type) cystatins (cystatin SN, cystatin SA, cystatin S, and two phosphorylated forms of cystatin S) in human whole saliva and determination of phosphorylation sites of cystatin S. (PMID: 1778989) Isemura S. … Minakata K. (J. Biochem. 1991) 3 4 22 64
  2. Confident assignment of intact mass tags to human salivary cystatins using top-down Fourier-transform ion cyclotron resonance mass spectrometry. (PMID: 20189825) Ryan C.M. … Whitelegge J.P. (J. Am. Soc. Mass Spectrom. 2010) 4 22 64
  3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 46 64
  4. Upregulation of the cysteine protease inhibitor, cystatin SN, contributes to cell proliferation and cathepsin inhibition in gastric cancer. (PMID: 19463800) Choi E.H. … Lee H.G. (Clin. Chim. Acta 2009) 3 22 64
  5. Identification of Cystatin SN as a novel tumor marker for colorectal cancer. (PMID: 19513549) Yoneda K. … Nakajima A. (Int. J. Oncol. 2009) 3 22 64

Products for CST1 Gene

Sources for CST1 Gene

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