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CST6 cystatin E/M [ Homo sapiens (human) ]

Gene ID: 1474, updated on 24-Nov-2020

Summary

Official Symbol
CST6provided by HGNC
Official Full Name
cystatin E/Mprovided by HGNC
Primary source
HGNC:HGNC:2478
See related
Ensembl:ENSG00000175315 MIM:601891
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
ECTD15
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]
Expression
Biased expression in skin (RPKM 70.4) and lung (RPKM 4.9) See more
Orthologs

Genomic context

See CST6 in Genome Data Viewer
Location:
11q13.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (66012008..66013505)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65779462..65780976)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 pseudogene Neighboring gene eukaryotic translation initiation factor 1A domain containing Neighboring gene BAF nuclear assembly factor 1 Neighboring gene cation channel sperm associated 1 Neighboring gene galactose-3-O-sulfotransferase 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE
MedGen: C5193145 OMIM: 618535 GeneReviews: Not available
not available
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
epidermis development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cornified envelope IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
cystatin-M
Names
cystatin 6
cystatin M/E
cystatin-E
cysteine proteinase inhibitor

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)

  1. NM_001323.4NP_001314.1  cystatin-M precursor

    See identical proteins and their annotated locations for NP_001314.1

    Status: REVIEWED

    Source sequence(s)
    AA778147, AI127639, U81233
    Consensus CDS
    CCDS8126.1
    UniProtKB/Swiss-Prot
    Q15828
    Related
    ENSP00000311313.2, ENST00000312134.3
    Conserved Domains (1) summary
    smart00043
    Location:33147
    CY; Cystatin-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    66012008..66013505
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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