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

Gene ID: 140765, updated on 5-Mar-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, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
human all
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Genomic context

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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 (22) 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 hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables serine-type peptidase 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 
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
  
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 membrane IEA
Inferred from Electronic Annotation
more info
  
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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