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    Tmprss3 transmembrane protease, serine 3 [ Mus musculus (house mouse) ]

    Gene ID: 140765, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tmprss3provided by MGI
    Official Full Name
    transmembrane protease, serine 3provided by MGI
    Primary source
    MGI:MGI:2155445
    See related
    Ensembl:ENSMUSG00000024034 AllianceGenome:MGI:2155445
    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
    Summary
    Predicted to enable sodium channel regulator activity. Involved in sensory perception of sound. Located in endoplasmic reticulum and neuronal cell body. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 8 and sensorineural hearing loss. Orthologous to human TMPRSS3 (transmembrane serine protease 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    See Tmprss3 in Genome Data Viewer
    Location:
    17 A3.3; 17 15.8 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (31398237..31419478, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (31179263..31200504, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene trefoil factor 2 (spasmolytic protein 1) Neighboring gene predicted gene 15318 Neighboring gene trefoil factor 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:31341993-31342102 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:31344766-31345042 Neighboring gene ubiquitin associated and SH3 domain containing, A Neighboring gene STARR-positive B cell enhancer ABC_E3196 Neighboring gene STARR-positive B cell enhancer ABC_E10945 Neighboring gene radial spoke head 1 homolog (Chlamydomonas) Neighboring gene solute carrier family 37 (glycerol-3-phosphate transporter), member 1 Neighboring gene predicted gene, 30139

    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. [Expression of proteinase TMPRSS3 in mouse cochlea]. Ge S, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2011 Aug. PMID 21937810
    2. Long non‑coding RNA EBLN3P promotes the recovery of the function of impaired spiral ganglion neurons by competitively binding to miR‑204‑5p and regulating TMPRSS3 expression. Jiang W, et al. Int J Mol Med, 2020 Jun. PMID 32186779, Free PMC Article
    3. miR-204 suppresses cochlear spiral ganglion neuron survival in vitro by targeting TMPRSS3. Li Y, et al. Hear Res, 2014 Aug. PMID 24924414
    4. Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression. Molina L, et al. Hum Mol Genet, 2013 Apr 1. PMID 23255163
    5. Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing. Fasquelle L, et al. J Biol Chem, 2011 May 13. PMID 21454591, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Long noncoding RNA EBLN3P promotes the recovery of the function of impaired spiral ganglion neurons by competitively binding to miR2045p and regulating TMPRSS3 expression.
      Title: Long non‑coding RNA EBLN3P promotes the recovery of the function of impaired spiral ganglion neurons by competitively binding to miR‑204‑5p and regulating TMPRSS3 expression.
    2. miR-204 has a role in suppressing cochlear spiral ganglion neuron survival in vitro by targeting TMPRSS3
      Title: miR-204 suppresses cochlear spiral ganglion neuron survival in vitro by targeting TMPRSS3.
    3. Lack of Tmprss3 leads to a decrease in Kcnma1 potassium channels expression in cochlear inner hair cells.
      Title: Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression.
    4. The distribution of TMPRSS3 was observed in many regions of the mouse cochlea, but mainly in the spiral ganglion neurons.
      Title: [Expression of proteinase TMPRSS3 in mouse cochlea].
    5. Tmprss3 acts as a permissive factor for cochlear hair cells survival and activation at the onset of hearing and is required for saccular hair cell survival
      Title: Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC130589

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sodium channel regulator activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within intracellular sodium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protease serine 3
    Names
    transmembrane proteinase serine 3
    NP_001157248.1
    NP_542765.2
    XP_017172730.1

    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_001163776.1 → NP_001157248.1  transmembrane protease serine 3 isoform 1

      See identical proteins and their annotated locations for NP_001157248.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC167247, AK158203
      Consensus CDS
      CCDS50053.1
      UniProtKB/TrEMBL
      Q2M1G4, Q3TZ06
      Related
      ENSMUSP00000110196.3, ENSMUST00000114549.4
      Conserved Domains (4) summary
      smart00020
      Location:238 → 465
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:96 → 129
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:239 → 468
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam15494
      Location:134 → 233
      SRCR_2; Scavenger receptor cysteine-rich domain

    2. NM_080727.2 → NP_542765.2  transmembrane protease serine 3 isoform 2

      See identical proteins and their annotated locations for NP_542765.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC167247, AK158203
      Consensus CDS
      CCDS37547.1
      UniProtKB/Swiss-Prot
      Q812A6, Q8K1T0, Q8VDE0
      UniProtKB/TrEMBL
      Q2M1G4
      Related
      ENSMUSP00000024833.6, ENSMUST00000024833.13
      Conserved Domains (4) summary
      smart00020
      Location:216 → 443
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:74 → 107
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:217 → 446
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam15494
      Location:112 → 211
      SRCR_2; Scavenger receptor cysteine-rich domain

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      31398237..31419478 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317241.1 → XP_017172730.1  transmembrane protease serine 3 isoform X1

      Conserved Domains (2) summary
      cd00112
      Location:74 → 107
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam15494
      Location:112 → 211
      SRCR_2; Scavenger receptor cysteine-rich domain

    RNA

    1. XR_001782038.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K1T0.2 GenPept UniProtKB/Swiss-Prot:Q8K1T0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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