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Serpinb6a serine (or cysteine) peptidase inhibitor, clade B, member 6a [ Mus musculus (house mouse) ]

Gene ID: 20719, updated on 5-Mar-2023

Summary

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Official Symbol
Serpinb6aprovided by MGI
Official Full Name
serine (or cysteine) peptidase inhibitor, clade B, member 6aprovided by MGI
Primary source
MGI:MGI:103123
See related
Ensembl:ENSMUSG00000060147 AllianceGenome:MGI:103123
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
PI-6; Spi3; Serpinb6; ovalbumin; 4930482L21Rik; D330015H01Rik
Summary
Predicted to enable protease binding activity and serine-type endopeptidase inhibitor activity. Predicted to be involved in cellular response to osmotic stress; negative regulation of endopeptidase activity; and sensory perception of sound. Predicted to act upstream of or within negative regulation of peptidase activity. Located in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; inner ear; and respiratory system. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 91. Orthologous to human SERPINB6 (serpin family B member 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in large intestine adult (RPKM 75.9), bladder adult (RPKM 55.9) and 27 other tissues See more
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Genomic context

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See Serpinb6a in Genome Data Viewer
Location:
13 A3.3; 13 14.0 cM
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (34101901..34186777, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (33917918..34002794, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene serine (or cysteine) peptidase inhibitor, clade B, member 6e Neighboring gene serine (or cysteine) peptidase inhibitor, clade B, member 6c Neighboring gene RIKEN cDNA 1110046J04 gene Neighboring gene N-ribosyldihydronicotinamide quinone reductase 2 Neighboring gene receptor (TNFRSF)-interacting serine-threonine kinase 1 Neighboring gene biphenyl hydrolase-like (serine hydrolase, breast epithelial mucin-associated antigen) Neighboring gene tubulin, beta 2A class IIA

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Absence of Serpinb6a causes progressive hair cell apoptosis and hearing loss in mice. Cheng C, et al. J Genet Genomics, 2023 Feb. PMID 36087923
  2. Mice heterozygous for the Serpinb6a null mutation show deficits in central auditory function after acoustic trauma. Tan J, et al. Neuroreport, 2021 Nov 2. PMID 34554936
  3. Synthesis, localization and possible function of serine (or cysteine) peptidase inhibitor, clade B, member 6a (Serpinb6a) in mouse submandibular gland. Nakata H, et al. Cell Tissue Res, 2017 Sep. PMID 28455723
  4. Absence of SERPINB6A causes sensorineural hearing loss with multiple histopathologies in the mouse inner ear. Tan J, et al. Am J Pathol, 2013 Jul. PMID 23669344
  5. Targeted disruption of SPI3/Serpinb6 does not result in developmental or growth defects, leukocyte dysfunction, or susceptibility to stroke. Scarff KL, et al. Mol Cell Biol, 2004 May. PMID 15082799, Free PMC Article

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Absence of Serpinb6a causes progressive hair cell apoptosis and hearing loss in mice.
    Title: Absence of Serpinb6a causes progressive hair cell apoptosis and hearing loss in mice.
  2. Mice heterozygous for the Serpinb6a null mutation show deficits in central auditory function after acoustic trauma.
    Title: Mice heterozygous for the Serpinb6a null mutation show deficits in central auditory function after acoustic trauma.
  3. Serpinb6a mRNA expression was more abundant in the male than in the female submandibular gland.
    Title: Synthesis, localization and possible function of serine (or cysteine) peptidase inhibitor, clade B, member 6a (Serpinb6a) in mouse submandibular gland.
  4. Mice lacking SERPINB6A show nonsyndromic, autosomal-recessive deafness. SERPINB6A is present in the inner ear and deafness is associated with age-related progressive degeneration of the organ of Corti.
    Title: Absence of SERPINB6A causes sensorineural hearing loss with multiple histopathologies in the mouse inner ear.
  5. Data suggest that compensation by other serpins reduces the impact of SPI3/serpinb6 deficiency in these animals and may explain the lack of a more obvious phenotype.
    Title: Targeted disruption of SPI3/Serpinb6 does not result in developmental or growth defects, leukocyte dysfunction, or susceptibility to stroke.
  6. This protein, and its mRNA, are distributed throughout the adult mouse brain.
    Title: Distribution of serine proteinase inhibitor, clade B, member 6 (Serpinb6) in the adult mouse brain.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (2)  1 citation
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables peptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
enables protease binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity ISO
Inferred from Sequence Orthology
more info
  
enables serine-type endopeptidase inhibitor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to osmotic stress ISO
Inferred from Sequence Orthology
more info
  
involved_in gonad development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in negative regulation of endopeptidase activity ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of endopeptidase activity NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within negative regulation of peptidase activity IEA
Inferred from Electronic Annotation
more info
  
involved_in sensory perception of sound ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
part_of serine protease inhibitor complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
serpin B6
Names
placental thrombin inhibitor
serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6
serine (or cysteine) proteinase inhibitor, clade B, member 6a
serine protease inhibitor 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001164117.1 → NP_001157589.1  serpin B6 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL450406
    Consensus CDS
    CCDS49228.1
    UniProtKB/TrEMBL
    F8WIV2
    Related
    ENSMUSP00000017188.8, ENSMUST00000017188.14
    Conserved Domains (1) summary
    cl00137
    Location:25 → 399
    SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...

  2. NM_001164118.1 → NP_001157590.1  serpin B6 isoform b

    See identical proteins and their annotated locations for NP_001157590.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream, in-frame start site, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AL450406
    Consensus CDS
    CCDS26441.1
    UniProtKB/Swiss-Prot
    Q60854
    UniProtKB/TrEMBL
    Q4FJQ6
    Related
    ENSMUSP00000131115.2, ENSMUST00000167163.8
    Conserved Domains (1) summary
    cd19565
    Location:1 → 378
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  3. NM_001243192.1 → NP_001230121.1  serpin B6 isoform b

    See identical proteins and their annotated locations for NP_001230121.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses a downstream, in-frame start site, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AC161117, AL450406, CF732441
    Consensus CDS
    CCDS26441.1
    UniProtKB/Swiss-Prot
    Q60854
    UniProtKB/TrEMBL
    Q4FJQ6
    Related
    ENSMUSP00000075848.8, ENSMUST00000076532.14
    Conserved Domains (1) summary
    cd19565
    Location:1 → 378
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  4. NM_009254.3 → NP_033280.1  serpin B6 isoform b

    See identical proteins and their annotated locations for NP_033280.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream, in-frame start site, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AL450406
    Consensus CDS
    CCDS26441.1
    UniProtKB/Swiss-Prot
    Q60854
    UniProtKB/TrEMBL
    Q4FJQ6
    Related
    ENSMUSP00000041016.11, ENSMUST00000043552.17
    Conserved Domains (1) summary
    cd19565
    Location:1 → 378
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    34101901..34186777 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011244299.3 → XP_011242601.1  serpin B6 isoform X1

    See identical proteins and their annotated locations for XP_011242601.1

    UniProtKB/Swiss-Prot
    Q60854
    UniProtKB/TrEMBL
    Q4FJQ6
    Conserved Domains (1) summary
    cd19565
    Location:1 → 378
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  2. XM_011244300.3 → XP_011242602.1  serpin B6 isoform X1

    See identical proteins and their annotated locations for XP_011242602.1

    UniProtKB/Swiss-Prot
    Q60854
    UniProtKB/TrEMBL
    Q4FJQ6
    Conserved Domains (1) summary
    cd19565
    Location:1 → 378
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  3. XM_011244301.1 → XP_011242603.1  serpin B6 isoform X1

    See identical proteins and their annotated locations for XP_011242603.1

    UniProtKB/Swiss-Prot
    Q60854
    UniProtKB/TrEMBL
    Q4FJQ6
    Conserved Domains (1) summary
    cd19565
    Location:1 → 378
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase

  4. XM_036157951.1 → XP_036013844.1  serpin B6 isoform X1

    UniProtKB/Swiss-Prot
    Q60854
    UniProtKB/TrEMBL
    Q4FJQ6
    Conserved Domains (1) summary
    cd19565
    Location:1 → 378
    serpinB6_CAP; serpin family B member 6, cytoplasmic antiproteinase
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q60854.1 GenPept UniProtKB/Swiss-Prot:Q60854

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