CSTA cystatin A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CSTAprovided by HGNC
Official Full Name: cystatin Aprovided by HGNC
Primary source: HGNC:HGNC:2481
See related: Ensembl:ENSG00000121552 MIM:184600; AllianceGenome:HGNC:2481
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
Also known as: AREI; PSS4; STF1; STFA
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 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]
Expression: Biased expression in esophagus (RPKM 1149.9), skin (RPKM 100.5) and 1 other tissue See more
Orthologs: all
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Genomic context

Location:: 3q21.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (122325248..122341969)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (125044823..125061527)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (122044095..122060816)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Correlated with better prognosis, CSTA inhibits metastasis of nasopharyngeal carcinoma cells via suppressing AKT signaling through promoting METTL3 degradation.
Title: Correlated with better prognosis, CSTA inhibits metastasis of nasopharyngeal carcinoma cells via suppressing AKT signaling through promoting METTL3 degradation.
In Silico, In Vitro, and Clinical Investigations of Cathepsin B and Stefin A mRNA Expression and a Correlation Analysis in Kidney Cancer.
Title: In Silico, In Vitro, and Clinical Investigations of Cathepsin B and Stefin A mRNA Expression and a Correlation Analysis in Kidney Cancer.
Decreased CSTA expression promotes lymphatic metastasis and predicts poor survival in oral squamous cell carcinoma.
Title: Decreased CSTA expression promotes lymphatic metastasis and predicts poor survival in oral squamous cell carcinoma.
Interplay of ERalpha binding and DNA methylation in the intron-2 determines the expression and estrogen regulation of cystatin A in breast cancer cells.
Title: Interplay of ERα binding and DNA methylation in the intron-2 determines the expression and estrogen regulation of cystatin A in breast cancer cells.
Low CSTA expression is associated with brain metastasis in lung cancer.
Title: Identification of CD37, cystatin A, and IL-23A gene expression in association with brain metastasis: analysis of a prospective trial.
role of cystatin A in breast cancer and its functional link with ERalpha
Title: The role of cystatin A in breast cancer and its functional link with ERα.
High levels of CSTA expression in Esophageal Squamous Cell Carcinoma were correlated with tumor progression and advanced cancer stage, including lymph node metastasis.
Title: Clinicopathological significance of cystatin A expression in progression of esophageal squamous cell carcinoma.
UV phototoxicity-induced pre-elafin inside keratinocytes prior to cornified envelope formation could be involved in UV-induced keratinocyte apoptosis via cystatin-A downregulation resulting in pro-caspase-3 activation.
Title: Pre-elafin is Involved in Ultraviolet-induced Keratinocyte Apoptosis via Pro-caspase-3 Activation Associated with Cystatin-A Down-regulation.
Identify myoepithelial cell stefin A as a suppressor of early tumor invasion and a candidate marker to distinguish patients who are at low risk of developing invasive breast cancer.
Title: Myoepithelial cell-specific expression of stefin A as a suppressor of early breast cancer invasion.
Expression of CSTA was detected in some tumor tissues and many tumor-infiltrating immune cells. Cathepsin B expression was also observed in most tumor tissues and tumor-infiltrating immune cells
Title: Clinical features of cystatin A expression in patients with pancreatic ductal adenocarcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (39)

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

Associated conditions

Description	Tests
Peeling skin syndrome 4 MedGen: C4225407 OMIM: 607936 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common genetic variants associate with serum phosphorus concentration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

SHGC-108022 (e-PCR)
- UniSTS:170517

L17926 (e-PCR)
- UniSTS:53783

D12S390 (e-PCR)
- UniSTS:13449

SHGC-84683 (e-PCR)
- UniSTS:104084

GDB:252095 (e-PCR)
- UniSTS:156327

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 cysteine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in keratinocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of peptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of peptidase inhibitor complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: cystatin-A

Names: cystatin A (stefin A); cystatin AS

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.