SerpinB6

SerpinB6 may be involved in the regulation of serine proteinases present in the brain or extravasated from the blood By similarity. SerpinB6 is inhibitor of cathepsin G, kallikrein-8 and thrombin. SerpinB6 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.

SerpinB6 Related Areas

Enzyme>>Protease & Regulator>>Serine Protease & Regulator>>Serpin Superfamily>>SerpinB6

SerpinB6 Alternative Names

SerpinB6, RP1-90J20.6, CAP, DFNB91, DKFZp686I04222, MGC111370, MSTP057, PI6, PTI, SPI3 [Homo sapiens]

Serpinb6, Serpinb6a, RP23-262J21.1, 4930482L21Rik, AI876477, D330015H01Rik, Spi3, ovalbumin [Mus musculus]

Summaries for SerpinB6

Entrez Gene summary for SerpinB6:

The protein encoded by SERPINB6 gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in SERPINB6 gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for SERPINB6 gene. [provided by RefSeq, Sep 2010]

Wikipedia summary for SerpinB6:

Serpin B6 is a protein that in humans is encoded by the SERPINB6 gene.

Human SerpinB6 Protein General Information

 

• Protein names: SerpinB6
• Sequence length: 376 AA.
• Sequence similarities: Belongs to the serpin family. Ov-serpin subfamily.
• Sequence caution: The sequence BAD92800.1 differs from that shown. Reason: Erroneous initiation.
  The sequence CAD98106.1 differs from that shown. Reason: Erroneous initiation.
• Subunit structure: Forms a complex with the monomeric form of beta-tryptase.
• Subcellular location: Cytoplasm
• 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.
• Involvement in disease: Defects in SERPINB6 are the cause of deafness autosomal recessive type 91 (DFNB91) . It is a form of non-syndromic deafness characterized by progressive and age-dependent sensorineural hearing loss. Vestibular function is normal.

General information above from UniProt

Function for SerpinB6 Protein

UniProtKB:

SerpinB6 may be involved in the regulation of serine proteinases present in the brain or extravasated from the blood By similarity. SerpinB6 is inhibitor of cathepsin G, kallikrein-8 and thrombin. SerpinB6 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.

Genatlas:

• SerpinB6 is placental thrombin inhibitor
• SerpinB6 is cytoplasmic antiprotease
• SerpinB6 plays a role in mast cells, to regulate the activity of endogenous beta-tryptase in the cytoplasm
• Possible role of the SERPINB6 family members in gonad development, gametogenesis, and/or fertilization (Charron 2006)
• SerpinB6 is intracellular serpin produced by leukocytes, platelets, endothelial cells, keratinocytes and other epithelial cells that is a potent cathepsin G inhibitor (Scott 2007)
• SerpinB6 protects the intracellular compartment of keratinocytes from ectopic KLK8 (Scott 2007)
• SerpinB6 plays an important role in the inner ear in the protection against leakage of lysosomal content during stress and that loss of this protection results in cell death and sensorineural hearing loss (Sirmaci 2010)
• SerpinB6 is potent inhibitor of the monocyte/granulocyte protease cathepsin G, which is stored in azurophilic granules and then released into phagolysosomes or secreted during inflammation (Sirmaci 2010)

Homology for human SerpinB6

• homolog to the genes of the serpin cluster on chromosome 18 (SPI@2),highly

Phenotype Information for SerpinB6

• Gene/Locus: SERPINB6, PI6, PTI, SPI3, DFNB91
• Phenotype: Deafness, autosomal recessive 91

Phenotype Information for SerpinB6 from OMIM (Online Mendelian Inheritance in Man)