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MGP Database

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MGP002279

UniProt Annotations

Entry Information

Gene Name	serpin peptidase inhibitor, clade B (ovalbumin), member 6
Protein Entry	SPB6_HUMAN
UniProt ID	P35237
Species	Human

Comments

Comment type	Description
Disease	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:0000269\|PubMed:20451170}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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:0000269\|PubMed:10068683, ECO:0000269\|PubMed:17761692, ECO:0000269\|PubMed:20451170, ECO:0000269\|PubMed:8136380, ECO:0000269\|PubMed:8415716}.
Sequence Caution	Sequence=BAD92800.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD98106.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity	Belongs to the serpin family. Ov-serpin subfamily. {ECO:0000305}.
Subcellular Location	Cytoplasm {ECO:0000269\|PubMed:14670919, ECO:0000269\|PubMed:17761692, ECO:0000269\|PubMed:20451170, ECO:0000269\|PubMed:8486644}.
Subunit	Forms a complex with the monomeric form of beta-tryptase.
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:0000269\|PubMed:14670919, ECO:0000269\|PubMed:17761692, ECO:0000269\|PubMed:20451170}.