Homo sapiens Gene: CSTB
Summary
InnateDB Gene IDBG-4888.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CSTB
Gene Name cystatin B (stefin B)
Synonyms CST6; EPM1; EPM1A; PME; STFB; ULD;
Species Homo sapiens
Ensembl Gene ENSG00000160213
Encoded Proteins
cystatin B (stefin B)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:43772512-43776445
Strand Reverse strand
Band q22.3
Transcripts
ENST00000291568 ENSP00000291568
ENST00000480147
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
Experimentally validated
Total 23 [view]
Protein-Protein 22 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0002020 protease binding
GO:0004866 endopeptidase inhibitor activity
GO:0004869 cysteine-type endopeptidase inhibitor activity
GO:0005515 protein binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0008344 adult locomotory behavior
GO:0010466 negative regulation of peptidase activity
GO:0010951 negative regulation of endopeptidase activity
GO:0042981 regulation of apoptotic process
GO:0045861 negative regulation of proteolysis
Cellular Component
GO:0005615 extracellular space
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Pathways
NETPATH
EGFR1 pathway
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.597201
RefSeq NM_000100
HUGO
OMIM
CCDS CCDS13701
HPRD 03091
IMGT
EMBL
GenPept
RNA Seq Atlas