InnateDB Protein
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IDBP-56739.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SERPINB6
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Protein Name
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serpin peptidase inhibitor, clade B (ovalbumin), member 6
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Synonyms
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CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000369919
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InnateDB Gene
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IDBG-56735 (SERPINB6)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:14670919, ECO:0000269PubMed:17761692, ECO:0000269PubMed:20451170, ECO:0000269PubMed:8486644}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
7
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0002020
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protease binding
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GO:0004867
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serine-type endopeptidase inhibitor activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR023796
Serpin domain
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PFAM |
PF00079
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PRINTS |
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PIRSF |
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SMART |
SM00093
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TIGRFAMs |
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Modification |
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SwissProt |
P35237
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PhosphoSite |
PhosphoSite-P35237
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TrEMBL |
Q8IXH2
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UniProt Splice Variant |
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Entrez Gene |
5269
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UniGene |
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RefSeq |
NP_001284629
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HUGO |
HGNC:8950
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OMIM |
173321
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CCDS |
CCDS4479
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HPRD |
01413
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IMGT |
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EMBL |
AB209563
AF116727
AK314578
AL133351
BC001394
BC098564
BX538343
CH471087
S69272
Z22658
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GenPept |
AAB30320
AAH01394
AAH98564
AAO15303
BAD92800
BAG37155
CAA80373
CAD98106
CAI23292
EAW55097
EAW55098
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