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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CST1 Gene

protein-coding GIFtS: 59
GCID: GC20M023728

cystatin SN

Explore 11 diseases affiliated with
CST1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cystatin SN¹ ²		Cystatin-1³
Salivary Cystatin-SA-1² ³		Cystatin-SN¹
Cystain-SA-I³		Cysteine Proteinase Inhibitor, Type 2 Family²
Cystatin 1²		Cystain-SA-I³
Cystatin SA-I²		Cystatin-1³

External Ids:	HGNC: 2473¹	Entrez Gene: 1469²	Ensembl: ENSG00000170373⁷	OMIM: 123855⁵	UniProtKB: P01037³

Export aliases for CST1 gene to outside databases

Previous GC identifers: GC20M023716 GC20M023676 GC20M023723 GC20M023687

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CST1:

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)

UniProtKB/Swiss-Prot: CYTN_HUMAN, P01037

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 Wiki entry for CST1

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011387.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CST1 gene promoter:
COUP-TF1 COUP HNF-4alpha2 HNF-4alpha1 COUP-TF POU2F1 POU2F1a Zic1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CST1 promoter sequence

Search SABiosciences Chromatin IP Primers for CST1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CST1

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

Entrez Gene cytogenetic band: 20p11.21 Ensembl cytogenetic band: 20p11.21 HGNC cytogenetic band: 20p11.2

CST1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CST1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M023728: view genomic region (about GC identifiers)

Start:	23,728,190 bp from pter	End:	23,731,905 bp from pter
Size:	3,716 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CYTN_HUMAN, P01037 (See protein sequence)

Recommended Name: Cystatin-SN precursor

Size: 141 amino acids; 16388 Da

Subcellular location: Secreted

Mass spectrometry: Mass=14303.1553; Mass_error=0.0675; Method=Electrospray; Range=21-141; Source=PubMed:20189825;

Mass spectrometry: Mass=14319.171; Mass_error=0.0523; Method=Electrospray; Range=21-141; Note=Variant Leu-31;

Source=PubMed:20189825;

Secondary accessions: Q96LE6 Q9UCQ6

Explore the universe of human proteins at neXtProt for CST1: NX_P01037

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P01037

CST1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001889.2

ENSEMBL proteins:

ENSP00000305731 ENSP00000381439

Human Recombinant Protein Products for CST1:

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	ProSpec Recombinant Protein for CST1
	Uscn Proteins for CST1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--

CST1 for ontologies About GeneDecksing

CST1 Antibody Products:

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	Uscn ELISAs and CLIAs for CST1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CST1 for domains About GeneDecksing

3 InterPro domains/families:

IPR018073 Prot_inh_cystat_CS

IPR000010 Prot_inh_cystat

IPR027214 Cystatin

Graphical View of Domain Structure for InterPro Entry P01037

ProtoNet protein and cluster: P01037

3 Blocks protein families:

IPB000010 Cysteine protease inhibitor

IPB001005 Myb DNA-binding domain

IPB003243 Proteinase inhibitor I25A and I25B

UniProtKB/Swiss-Prot: CYTN_HUMAN, P01037

Similarity: Belongs to the cystatin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CYTN_HUMAN, P01037

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

Genatlas biochemistry entry for CST1:

cystatin SN,cysteine proteinase inhibitor,type 2 family

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004869	cysteine-type endopeptidase inhibitor activity	IEA	--

CST1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CST1:

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CST1

miRNA Products:		OriGene 3'-UTR Clone: CST1 Browse MicroRNA Expression Plasmids
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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CST1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Gastric acid secretion

Salivary secretion

0.35

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Kegg Pathway (Kegg details for CST1):

Salivary secretion

CST1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CST1

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for CST1 (P01037³ ENSP00000305731⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SOD2	P04179³, ENSP00000337127⁴	I2D: score=1 STRING: ENSP00000337127

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CST1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CST1
3 Novoseek chemical compound relationships for CST1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
kininogen	63.9	4	9099741 (1), 2107324 (1)
cysteine	62.1	15	10439027 (3), 19463800 (2), 8428660 (1), 9099741 (1) (see all 9)
iptg	45.6	2	7822260 (1)

Search CenterWatch for drugs/clinical trials and news about CST1 / CYTN

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CST1 gene:

NM_001898.2

Unigene Cluster for CST1:

Cystatin SN

Hs.123114 [show with all ESTs]

Unigene Representative Sequence: BU839412

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000304749(uc002wtp.3) ENST00000398402

miRNA Products:		OriGene 3'-UTR Clone: CST1 Browse OriGene MicroRNA Expression Plasmids
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CST1

Additional cDNA sequence:

BC021225.2 J03870.1

11 DOTS entries:

DT.97759874 DT.91721790 DT.100781828 DT.120823084 DT.120823092 DT.120823095 DT.120823099 DT.97759875

DT.99999111 DT.103103 DT.120823070

24/198 AceView cDNA sequences (see all 198):

BC074953 CK429248 NM_001898 CD721796 NM_001899 BX485701 AI648499 BC074952

CD721927 BP334029 BG403934 BP334742 BP334674 BP334794 BF689725 BG290406

BV203392 BP334188 BP334429 BP333937 BP334812 BP334362 BV203397 CB957526

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CST1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTACACACCC

About this image

CST1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 9 LifeMap Cells

Name

Category

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)

Endothelium

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Definitive endoderm-like cells (Generation of mesend...)

Primitive gut tube-like cells (A scalable, suspensi...)

DKK1-induced cells (Derivation of cardio...)

Mesoderm-like cells (Derivation of cardio...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CST1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CST1

SOURCE GeneReport for Unigene cluster: Hs.123114

UniProtKB/Swiss-Prot: CYTN_HUMAN, P01037

Tissue specificity: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level).

Expressed in saliva, tears, urine and seminal fluid

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In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CST1

(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CST1 gene from 3/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CYT_CHICK⁶	Cystatin	40(a)	1 → many	3(16498156-16500488)
lizard (Anolis carolinensis)	Reptilia	--	--	38(a)	1 → many	4(82204275-82217421)
zebrafish (Danio rerio)	Actinopterygii	cst3⁶ zgc:163030⁶	zgc:163030	33(a) 28(a)	many ↔ many many ↔ many	13(33900031-33908388) 13(33894411-33896169)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CST1 gene

CST2² CSTL1² CST7² CST3² CST6² CST4² CST8² CST5²

CST11²

10 SIMAP similar genes for CST1 using alignment to 1 protein entry: CYTN_HUMAN:

CST4 CST2 CST5 CST3 CST8 CST11

CSTL1 CST6 CST7 CST9LP1

CST1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs6036516^1,2	C,F,A,H	--	23727697(+)	`GTAGGG/TGCCTA`	1	--	ds500¹		6		WA NA CSA EA	363
rs191447393^1,2		--	23727700(+)	`GGTGCC/TTAAAG`	1	--	ds500¹		0	--	--	--	--
rs146482789^1,2		--	23727715(+)	`CTGTGC/GAAAGA`	1	--	ds500¹		0	--	--	--	--
rs140899439^1,2		--	23727727(+)	`CTACAC/TGTTGA`	1	--	ds500¹		0	--	--	--	--
rs115664080^1,2	F	--	23727734(+)	`TTGATC/TGCTGT`	1	--	ds500¹		1		WA	118
rs4331584^1,2	C,F,A,H	--	23727735(+)	`TGATCG/ACTGTC`	1	--	ds500¹		10		NS EA NA WA	782
rs11699215^1,2	C,F,H	--	23727744(+)	`TCTATT/ATAGTG`	1	--	ds500¹		7		WA NA CSA EA	365
rs6049067^1,2	C,F,A,H	--	23727828(+)	`CCTGGG/CGAGCT`	1	--	ds500¹		15		NS EA NA CSA WA	921
rs149738736^1,2		--	23727880(+)	`CTCCTC/TGTGGT`	1	--	ds500¹		0	--	--	--	--
rs4505598^1,2	C,F,H	--	23727917(+)	`CAGCCC/TAGCTT`	1	--	ds500¹		18		NS EA NA WA CSA	817

HapMap Linkage Disequilibrium report for CST1 (23728190 - 23731905 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CST1
2 CNVs: 7301 50636

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CST1

DNA2.0 Custom Variant and Variant Library Synthesis for CST1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CST1 for disorders           About GeneDecksing

OMIM gene information: 123855    OMIM disorders: --

11 diseases for CST1:    About MalaCards

dental caries cerebral hemorrhage insulin resistance keratitis

periodontitis periodontal disease gingivitis cerebritis

gastric cancer colorectal cancer fibrosis

1 disease from the University of Copenhagen DISEASES database for CST1:

Denture stomatitis

1 Novoseek disease relationship for CST1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
inflammation	0	1	17044913 (1)

Human Genome Epidemiology (HuGE) Navigator: CST1 (3 documents)

Export disorders for CST1 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)
About This Section

PubMed articles for CST1 gene, integrated from 9 sources (see all 56):
(articles sorted by number of sources associating them with CST1)

Utopia: connect your pdf to the dynamic
world of online information

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. (PubMed id 1778989)^{1, 2, 9} Isemura S.... Minakata K. (1991)
Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)^{1, 2} Zhang Z. and Henzel W.J. (2004)
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. (2004)
Newly identified proteins in human nasal lavage fluid from non- smokers and smokers using two-dimensional gel electrophoresis and peptide mass fingerprinting. (PubMed id 11788998)^{1, 2} Ghafouri B.... Lindahl M. (2002)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Cystatin superfamily. Evidence that family II cystatin genes are evolutionarily related to family III cystatin genes. (PubMed id 3202964)^{1, 2} Saitoh E.... Maeda N. (1988)
Purification, molecular cloning, and sequencing of salivary cystatin SA-1. (PubMed id 2837486)^{1, 2} Al-Hashimi I.... Levine M.J. (1988)
Human cysteine-proteinase inhibitors: nucleotide sequence analysis of three members of the cystatin gene family. (PubMed id 3446578)^{1, 2} Saitoh E.... Maeda N. (1987)
Characterization of a new cysteine proteinase inhibitor of human saliva, cystatin SN, which is immunologically related to cystatin S. (PubMed id 3514272)^{1, 2} Isemura S.... Sanada K. (1986)
Upregulation of the cysteine protease inhibitor, cyst atin SN, contributes to cell proliferation and cathepsin inhibition in gastric cancer. (PubMed id 19463800)^{1, 9} Choi E.H....Lee H.G. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1469	HGNC: 2473	AceView: CST1andCST4	Ensembl:ENSG00000170373	euGenes: HUgn1469
ECgene: CST1	Kegg: 1469	H-InvDB: CST1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CST1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CST1 gene
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Patent Information for CST1 gene:
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