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Aliases for SERPINB6 Gene

Aliases for SERPINB6 Gene

  • Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 6 2 3
  • Cytoplasmic Antiproteinase 2 3 4
  • PI6 3 4 6
  • PTI 3 4 6
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 6 2 3
  • DFNB91 3 6
  • SPI3 3 6
  • PI-6 3 4
  • CAP 3 4
  • Protease Inhibitor 6 (Placental Thrombin Inhibitor) 3
  • Deafness, Autosomal Recessive 91 2
  • Placental Thrombin Inhibitor 4
  • Peptidase Inhibitor 6 4
  • Serpin B6 3
  • MSTP057 3

External Ids for SERPINB6 Gene

Previous Symbols for SERPINB6 Gene

  • PI6
  • DFNB91

Summaries for SERPINB6 Gene

Entrez Gene Summary for SERPINB6 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]

GeneCards Summary for SERPINB6 Gene

SERPINB6 (Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 6) is a Protein Coding gene. Diseases associated with SERPINB6 include deafness, autosomal recessive 91 and sensorineural hearing loss. Among its related pathways are Hemostasis and Amoebiasis. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and protease binding. An important paralog of this gene is SERPINB12.

UniProtKB/Swiss-Prot for SERPINB6 Gene

  • 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.

Gene Wiki entry for SERPINB6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINB6 Gene

Genomics for SERPINB6 Gene

Genomic Location for SERPINB6 Gene

Start:
2,948,159 bp from pter
End:
2,972,165 bp from pter
Size:
24,007 bases
Orientation:
Minus strand

Genomic View for SERPINB6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SERPINB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINB6 Gene

Regulatory Elements for SERPINB6 Gene

Proteins for SERPINB6 Gene

  • Protein details for SERPINB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35237-SPB6_HUMAN
    Recommended name:
    Serpin B6
    Protein Accession:
    P35237
    Secondary Accessions:
    • B2RBA8
    • Q59F97
    • Q5TD06
    • Q7Z2Y7
    • Q96J44
    • Q9UDI7

    Protein attributes for SERPINB6 Gene

    Size:
    376 amino acids
    Molecular mass:
    42622 Da
    Quaternary structure:
    • Forms a complex with the monomeric form of beta-tryptase
    SequenceCaution:
    • Sequence=BAD92800.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD98106.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SERPINB6 Gene

Proteomics data for SERPINB6 Gene at MOPED

Post-translational modifications for SERPINB6 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys252 and Lys314

No data available for DME Specific Peptides for SERPINB6 Gene

Domains for SERPINB6 Gene

Gene Families for SERPINB6 Gene

HGNC:
  • SERPIN :Serine (or cysteine) peptidase inhibitors

Protein Domains for SERPINB6 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

SPB6_HUMAN
Family:
  • Belongs to the serpin family. Ov-serpin subfamily.:
    • P35237
genes like me logo Genes that share domains with SERPINB6: view

Function for SERPINB6 Gene

Molecular function for SERPINB6 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for SERPINB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 14670919
GO:0004867 serine-type endopeptidase inhibitor activity IDA 17761692
genes like me logo Genes that share ontologies with SERPINB6: view

Phenotypes for SERPINB6 Gene

genes like me logo Genes that share phenotypes with SERPINB6: view

miRNA for SERPINB6 Gene

miRTarBase miRNAs that target SERPINB6

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SERPINB6 Gene

Localization for SERPINB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINB6 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SERPINB6 Gene COMPARTMENTS Subcellular localization image for SERPINB6 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
extracellular 2
nucleus 2
plasma membrane 2
chloroplast 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SERPINB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA --
GO:0005634 NOT nucleus IDA 14670919
GO:0005737 cytoplasm IDA 14670919
GO:0005829 cytosol TAS 8415716
GO:0043234 protein complex IDA 17761692
genes like me logo Genes that share ontologies with SERPINB6: view

Pathways for SERPINB6 Gene

genes like me logo Genes that share pathways with SERPINB6: view

Pathways by source for SERPINB6 Gene

2 Reactome pathways for SERPINB6 Gene
1 KEGG pathway for SERPINB6 Gene

Gene Ontology (GO) - Biological Process for SERPINB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IMP 20451170
GO:0010951 negative regulation of endopeptidase activity IDA 17761692
GO:0030162 regulation of proteolysis --
GO:0071470 cellular response to osmotic stress IMP 20451170
genes like me logo Genes that share ontologies with SERPINB6: view

Compounds for SERPINB6 Gene

(1) Drugbank Compounds for SERPINB6 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Drotrecogin alfa
  • Anticoagulant protein C
60202-16-6 target

(2) Novoseek inferred chemical compound relationships for SERPINB6 Gene

Compound -log(P) Hits PubMed IDs
serine 68.5 16
sodium dodecylsulfate 33.8 3
genes like me logo Genes that share compounds with SERPINB6: view

Transcripts for SERPINB6 Gene

Unigene Clusters for SERPINB6 Gene

Serpin peptidase inhibitor, clade B (ovalbumin), member 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINB6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^
SP1: - - - - - - - - - - - - - - -
SP2: - - - - -
SP3: - - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - -
SP6: - -
SP7: - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - -
SP9: -
SP10: - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - - -
SP13: - - - - - - -
SP14: -
SP15: - - - - - - - - - - -
SP16:
SP17: - - - - - - - - - - - - - - - - -
SP18: - - - - - - - - - - - - - - - -

ExUns: 13a · 13b · 13c · 13d ^ 14a · 14b ^ 15a · 15b · 15c · 15d
SP1: -
SP2: -
SP3: -
SP4: -
SP5: -
SP6: -
SP7: -
SP8: -
SP9: -
SP10: -
SP11: -
SP12:
SP13: -
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for SERPINB6 Gene

GeneLoc Exon Structure for
SERPINB6
ECgene alternative splicing isoforms for
SERPINB6

Expression for SERPINB6 Gene

mRNA expression in normal human tissues for SERPINB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SERPINB6 Gene

SOURCE GeneReport for Unigene cluster for SERPINB6 Gene Hs.519523

mRNA Expression by UniProt/SwissProt for SERPINB6 Gene

P35237-SPB6_HUMAN
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.
genes like me logo Genes that share expressions with SERPINB6: view

Orthologs for SERPINB6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINB6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERPINB6 36
  • 97.78 (n)
  • 96.77 (a)
SERPINB6 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 76 (a)
OneToMany
-- 37
  • 71 (a)
OneToMany
-- 37
  • 72 (a)
OneToMany
LOC617406 36
  • 77.66 (n)
  • 77.13 (a)
dog
(Canis familiaris)
Mammalia SERPINB6 36
  • 80.22 (n)
  • 77.2 (a)
SERPINB6 37
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpinb6a 36
  • 79.43 (n)
  • 76.35 (a)
Serpinb6a 16
Serpinb6a 37
  • 72 (a)
OneToMany
Serpinb6b 37
  • 72 (a)
OneToMany
Serpinb6c 37
  • 68 (a)
OneToMany
Serpinb6d 37
  • 59 (a)
OneToMany
Serpinb6e 37
  • 51 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 55 (a)
OneToMany
-- 37
  • 52 (a)
OneToMany
-- 37
  • 45 (a)
OneToMany
-- 37
  • 42 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 64 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Serpinb6 36
  • 78.9 (n)
  • 73.94 (a)
chicken
(Gallus gallus)
Aves SERPINB6 36
  • 67.2 (n)
  • 60.86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia serpinb6 36
  • 62.91 (n)
  • 61.66 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11177 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
serpinb1l4 36
  • 61.11 (n)
  • 54.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta Spn43Ab 38
  • 27 (a)
Spn5 38
  • 29 (a)
Spn3 38
  • 33 (a)
Spn2 38
  • 32 (a)
Spn43Aa 38
  • 33 (a)
CG9455 38
  • 32 (a)
CG9460 38
  • 30 (a)
CG6687 38
  • 29 (a)
Spn1 38
  • 33 (a)
nec 38
  • 30 (a)
CG6717 38
  • 29 (a)
Spn6 38
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea srp-7 38
  • 30 (a)
srp-1 38
  • 28 (a)
srp-6 38
  • 30 (a)
Species with no ortholog for SERPINB6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SERPINB6 Gene

ENSEMBL:
Gene Tree for SERPINB6 (if available)
TreeFam:
Gene Tree for SERPINB6 (if available)

Paralogs for SERPINB6 Gene

genes like me logo Genes that share paralogs with SERPINB6: view

Variants for SERPINB6 Gene

Sequence variations from dbSNP and Humsavar for SERPINB6 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs318426 -- 2,948,731(-) ACCCT(A/G)GGTCT intron-variant
rs911539 -- 2,958,408(-) GAGGC(A/G)TCTCC intron-variant, upstream-variant-2KB
rs911540 -- 2,958,350(-) GGTCG(A/G)GGCCA intron-variant, upstream-variant-2KB
rs1040858 -- 2,954,385(-) TCCCT(A/G)TTTCC intron-variant
rs1047315 -- 2,949,040(-) ATGTT(G/T)AAGCA missense, reference

Structural Variations from Database of Genomic Variants (DGV) for SERPINB6 Gene

Variant ID Type Subtype PubMed ID
nsv830575 CNV Loss 17160897
nsv883396 CNV Loss 21882294
nsv883398 CNV Loss 21882294
nsv437477 CNV Loss 16327808
dgv6429n71 CNV Loss 21882294

Relevant External Links for SERPINB6 Gene

HapMap Linkage Disequilibrium report
SERPINB6
Human Gene Mutation Database (HGMD)
SERPINB6

Disorders for SERPINB6 Gene

(1) OMIM Diseases for SERPINB6 Gene (173321)

UniProtKB/Swiss-Prot

SPB6_HUMAN
  • 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.

(3) Novoseek inferred disease relationships for SERPINB6 Gene

Disease -log(P) Hits PubMed IDs
prostate cancer 4.66 4
necrosis 0 1
tumors 0 1
genes like me logo Genes that share disorders with SERPINB6: view

Publications for SERPINB6 Gene

  1. Cloning and molecular characterization of a human intracellular serine proteinase inhibitor. (PMID: 8415716) Coughlin P. … Bird P. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 4 23
  2. Complementary DNA cloning and kinetic characterization of a novel intracellular serine proteinase inhibitor: mechanism of action with trypsin and factor Xa as model proteinases. (PMID: 8136380) Morgenstern K.A. … Kisiel W. (Biochemistry 1994) 3 4 23
  3. A serpin gene cluster on human chromosome 6p25 contains PI6, PI9 and ELANH2 which have a common structure almost identical to the 18q21 ovalbumin serpin genes. (PMID: 9858835) Sun J. … Bird P.I. (Cytogenet. Cell Genet. 1998) 2 3 23
  4. Intracellular serpin SERPINB6 (PI6) is abundantly expressed by human mast cells and forms complexes with beta-tryptase monomers. (PMID: 14670919) Strik M.C. … Kummer J.A. (Blood 2004) 3 4 23
  5. SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes. (PMID: 17761692) Scott F.L. … Bird P.I. (J. Biochem. 2007) 3 4 23

Products for SERPINB6 Gene

Sources for SERPINB6 Gene

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