CST6 cystatin E/M [Homo sapiens] - Gene

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Summary

Official Symbol: CST6provided by HGNC
Official Full Name: cystatin E/Mprovided by HGNC
Primary source: HGNC:2478
See related: Ensembl:ENSG00000175315; HPRD:03535; MIM:601891; Vega:OTTHUMG00000166750
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. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 11q13

Sequence :: Chromosome: 11; NC_000011.9 (65779462..65780976)

See CST6 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

An association between the quantity of CST6 methylation and the expression statuses of estrogen receptor, progesterone receptor, and HER4 in tumor tissues was found
Title: Cystatin M loss is associated with the losses of estrogen receptor, progesterone receptor, and HER4 in invasive breast cancer.
the level of cystatin E/M regulates legumain activity and hence the invasive potential of human melanoma cells
Title: Cystatin E/M suppresses legumain activity and invasion of human melanoma.
Methylation of cystatin M promoter is associated with breast cancer.
Title: Methylation of cystatin M promoter is associated with unfavorable prognosis in operable breast cancer.
Results suggest that the downregulation of the CST6 gene is associated with promoter histone modifications and that this association plays an important role in prostate cancer progression during the invasive and metastatic stages of the disease.
Title: Frequent loss of cystatin E/M expression implicated in the progression of prostate cancer.
cystatin M/E has a role in skin barrier formation and a potential role as a tumor suppressor gene [review]
Title: The biology of cystatin M/E and its cognate target proteases.
The cysteine protease inhibitor cystatin M/E is a key regulator of a biochemical pathway that leads to epidermal terminal differentiation.
Title: Colocalization of cystatin M/E and its target proteases suggests a role in terminal differentiation of human hair follicle and nail.
Cystatin M (CST6) tumor suppressor gene is concurrently down-regulated with other loci in breast epithelial cells cocultured with cancer-associated fibroblasts.
Title: Breast cancer-associated fibroblasts confer AKT1-mediated epigenetic silencing of Cystatin M in epithelial cells.
cystatin E/M is a cervical cancer suppressor gene and that the gene is inactivated by somatic mutations and promoter hypermethylation.
Title: Inactivation of the cystatin E/M tumor suppressor gene in cervical cancer.
These findings imply that CST6 is likely to involve in the proliferation and survival of pancreatic cancer probably through its proteinase inhibitory activity, and it is a promising molecular target for development of new therapeutic strategies for PDAC
Title: Over-expression of cysteine proteinase inhibitor cystatin 6 promotes pancreatic cancer growth.
CST6, CXCL14, DHRS3, and SPP1 are regulated by BRAF signaling and may play a role in papillary thyroid carcinoma pathogenesis
Title: Gene expression profiling of papillary thyroid carcinoma identifies transcripts correlated with BRAF mutational status and lymph node metastasis.

Submit: New GeneRIF Correction See all (20)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:107856	BioGRID:109187	GSK3B		BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
cysteine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
peptidase inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
epidermis development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cornified envelope	IEA Inferred from Electronic Annotation more info
extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: cystatin-M

Names: cystatin-M; cystatin 6; cystatin M; cystatin-6; cystatin-E; cystatin M/E; cysteine proteinase inhibitor

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_001323.3 → NP_001314.1 cystatin-M precursor

Status: REVIEWED

Source sequence(s)

AA778147, AI127639, U81233

Consensus CDS

CCDS8126.1

UniProtKB/Swiss-Prot

Q15828

Related

ENSP00000311313, OTTHUMP00000234150, ENST00000312134, OTTHUMT00000391348

Conserved Domains (1) summary

cd00042
Location:36 – 146
Blast Score: 213

CY; Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains.

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

65779462..65780976

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

62105544..62107045

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP006287.2 (127240..128754)	None
genomic	AY145051.1	AAN52757.1
genomic	CH471076.1	EAW74487.1
genomic	CS501266.1	CAM83949.1
mRNA	AA778147.1	None
mRNA	AI127639.1	None
mRNA	BC031334.1	AAH31334.1
mRNA	CR456872.1	CAG33153.1
mRNA	U62800.1	AAB06566.1
mRNA	U81233.1	AAB61305.1