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

    Gene ID: 20719, updated on 3-Nov-2024

    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. Located in cytoplasm. Is expressed in several structures, including central nervous system; genitourinary system; gut; 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, Nov 2024]
    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
    RS_2024_02 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 STARR-seq mESC enhancer starr_34130 Neighboring gene STARR-seq mESC enhancer starr_34131 Neighboring gene serine (or cysteine) peptidase inhibitor, clade B, member 6c Neighboring gene STARR-seq mESC enhancer starr_34132 Neighboring gene RIKEN cDNA 1110046J04 gene Neighboring gene N-ribosyldihydronicotinamide quinone reductase 2 Neighboring gene STARR-positive B cell enhancer ABC_E2403 Neighboring gene receptor (TNFRSF)-interacting serine-threonine kinase 1 Neighboring gene biphenyl hydrolase like 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 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. Distribution of serine proteinase inhibitor, clade B, member 6 (Serpinb6) in the adult mouse brain. Kishi T, et al. Brain Res Gene Expr Patterns, 2002 Oct. PMID 12638128
    5. A retained selection cassette increases reporter gene expression without affecting tissue distribution in SPI3 knockout/GFP knock-in mice. Scarff KL, et al. Genesis, 2003 Jul. PMID 12872246

    See all (46) 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)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 
    • Targeted (2)  1 citation

    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 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
    		  
    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
    		  
    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 
    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
    		  
    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
    		  
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    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, Q3U3L3
      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
      Q3U3L3, 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
      Q3U3L3, 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
      Q3U3L3, 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: GCF_000001635.27-RS_2024_02

    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
      Q3U3L3, 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
      Q3U3L3, 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
      Q3U3L3, 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
      Q3U3L3, 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

    Gene LinkOut

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