SERPINB6

Protein identityUniProt · HPA

UniProt accession

P35237

Gene

SERPINB6

Ensembl

ENSG00000124570

Chromosome

6

Canonical length

376 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Centrosome

OverviewNCBI Gene

The protein encoded by this 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 this 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 this gene. [provided by RefSeq, Sep 2010]

Canonical amino-acid sequenceUniProt

376 residues, UniProt reviewed canonical sequence.

>P35237|SERPINB6
     1  MDVLAEANGT FALNLLKTLG KDNSKNVFFS PMSMSCALAM VYMGAKGNTA AQMAQILSFN
    61  KSGGGGDIHQ GFQSLLTEVN KTGTQYLLRM ANRLFGEKSC DFLSSFRDSC QKFYQAEMEE
   121  LDFISAVEKS RKHINTWVAE KTEGKIAELL SPGSVDPLTR LVLVNAVYFR GNWDEQFDKE
   181  NTEERLFKVS KNEEKPVQMM FKQSTFKKTY IGEIFTQILV LPYVGKELNM IIMLPDETTD
   241  LRTVEKELTY EKFVEWTRLD MMDEEEVEVS LPRFKLEESY DMESVLRNLG MTDAFELGKA
   301  DFSGMSQTDL SLSKVVHKSF VEVNEEGTEA AAATAAIMMM RCARFVPRFC ADHPFLFFIQ
   361  HSKTNGILFC GRFSSP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SERPINB6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

266 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SERPINB6.

Disease | AllUniProt

Conditions SERPINB6 is implicated in, by any mechanism.

• Deafness, autosomal recessive, 91 (DFNB91) MIM:613453

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 217 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 91
• Rare genetic deafness
• Melanoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.12

gnomAD pLI

0

gnomAD missense Z

0.06

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to osmotic stress
• sensory perception of sound

Molecular functions

• protease binding
• serine-type endopeptidase inhibitor activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome
• extracellular matrix
• extracellular region
• extracellular space
• ficolin-1-rich granule membrane
• plasma membrane
• secretory granule membrane
• serine protease inhibitor complex
• tertiary granule membrane

Protein domainsUniProt · Pfam · InterPro

• Serpin family
• Serpin, conserved site
• Serpin domain
• Serpin superfamily
• Serpin superfamily, domain 1
• Serpin superfamily, domain 2
• Serpin (serine protease inhibitor)

KeywordsUniProt

• Acetylation
• Cytoplasm
• Deafness
• Non-syndromic deafness
• Phosphoprotein
• Protease inhibitor
• Serine protease inhibitor