Version 5.4
Homo sapiens Protein: SERPINB6
Summary
InnateDB Protein IDBP-56743.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SERPINB6
Protein Name serpin peptidase inhibitor, clade B (ovalbumin), member 6
Synonyms CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3;
Species Homo sapiens
Ensembl Protein ENSP00000369901
InnateDB Gene IDBG-56735 (SERPINB6)
Protein Structure
UniProt Annotation
Function May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss. {ECO:0000250, ECO:0000269PubMed:10068683, ECO:0000269PubMed:17761692, ECO:0000269PubMed:20451170, ECO:0000269PubMed:8136380, ECO:0000269PubMed:8415716}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:14670919, ECO:0000269PubMed:17761692, ECO:0000269PubMed:20451170, ECO:0000269PubMed:8486644}.
Disease Associations Deafness, autosomal recessive, 91 (DFNB91) [MIM:613453]: A form of non-syndromic deafness characterized by progressive and age-dependent sensorineural hearing loss. Vestibular function is normal. {ECO:0000269PubMed:20451170}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in keratinocytes (at protein level). Highest levels in skeletal muscle. Also found in placenta, cardiac muscle, lung, liver, kidney and pancreas. Expressed in the inner ear hair cells. Expressed abundantly by normal mast cells in different tissues and by mast cells in mastocytoma lesions. {ECO:0000269PubMed:14670919, ECO:0000269PubMed:17761692, ECO:0000269PubMed:20451170}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 7 [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:0004867 serine-type endopeptidase inhibitor activity
Biological Process
GO:0010951 negative regulation of endopeptidase activity
GO:0030162 regulation of proteolysis
Cellular Component
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0043234 protein complex
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR023796 Serpin domain
PFAM PF00079
PRINTS
PIRSF
SMART SM00093
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P35237
PhosphoSite PhosphoSite-P35237
TrEMBL Q8IXH2
UniProt Splice Variant
Entrez Gene 5269
UniGene
RefSeq NP_001284629
HUGO HGNC:8950
OMIM 173321
CCDS CCDS4479
HPRD 01413
IMGT
EMBL AB209563 AF116727 AK314578 AL133351 BC001394 BC098564 BX538343 CH471087 S69272 Z22658
GenPept AAB30320 AAH01394 AAH98564 AAO15303 BAD92800 BAG37155 CAA80373 CAD98106 CAI23292 EAW55097 EAW55098

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca