CST1 cystatin SN [Homo sapiens (human)] - Gene

Summary

Official Symbol: CST1provided by HGNC
Official Full Name: cystatin SNprovided by HGNC
Primary source: HGNC:HGNC:2473
See related: Ensembl:ENSG00000170373 MIM:123855; AllianceGenome:HGNC:2473
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Restricted expression toward salivary gland (RPKM 7300.7) See more
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Genomic context

Location:: 20p11.21

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (23747562..23750935, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (23807126..23810499, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (23728199..23731572, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The functional role of CST1 and CCL26 in asthma development.
Title: The functional role of CST1 and CCL26 in asthma development.
Combination of serum CST1 and HE4 for early diagnosis of endometrial cancer.
Title: Combination of serum CST1 and HE4 for early diagnosis of endometrial cancer.
Meibomian Gland Dysfunction Is Associated with Low Levels of Immunoglobulin Chains and Cystatin-SN.
Title: Meibomian Gland Dysfunction Is Associated with Low Levels of Immunoglobulin Chains and Cystatin-SN.
Epithelium-derived cystatin SN inhibits house dust mite protease activity in allergic asthma.
Title: Epithelium-derived cystatin SN inhibits house dust mite protease activity in allergic asthma.
Cystatin SN in type 2 inflammatory airway diseases.
Title: Cystatin SN in type 2 inflammatory airway diseases.
MiR-942-5p inhibits tumor migration and invasion through targeting CST1 in esophageal squamous cell carcinoma.
Title: MiR-942-5p inhibits tumor migration and invasion through targeting CST1 in esophageal squamous cell carcinoma.
MicroRNA-375 inhibits laryngeal squamous cell carcinoma progression via targeting CST1.
Title: MicroRNA-375 inhibits laryngeal squamous cell carcinoma progression via targeting CST1.
Cystatin SN promotes epithelial-mesenchymal transition and serves as a prognostic biomarker in lung adenocarcinoma.
Title: Cystatin SN promotes epithelial-mesenchymal transition and serves as a prognostic biomarker in lung adenocarcinoma.
Cystatin C and cystatin SN as possible soluble tumor markers in malignant uveal melanoma.
Title: Cystatin C and cystatin SN as possible soluble tumor markers in malignant uveal melanoma.
Prognostic and pharmacologic value of cystatin SN for chronic rhinosinusitis with nasal polyps.
Title: Prognostic and pharmacologic value of cystatin SN for chronic rhinosinusitis with nasal polyps.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in detection of chemical stimulus involved in sensory perception of bitter taste	IBA Inferred from Biological aspect of Ancestor more info
involved_in detection of chemical stimulus involved in sensory perception of bitter taste	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
is_active_in vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cystatin-SN

Names: cystain-SA-I; cystatin 1; cystatin SA-I; cysteine proteinase inhibitor, type 2 family; salivary cystatin-SA-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.