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    TMPRSS3 transmembrane protease, serine 3 [ Homo sapiens (human) ]

    Gene ID: 64699, updated on 6-Aug-2017
    Official Symbol
    TMPRSS3provided by HGNC
    Official Full Name
    transmembrane protease, serine 3provided by HGNC
    Primary source
    HGNC:HGNC:11877
    See related
    Ensembl:ENSG00000160183 MIM:605511; Vega:OTTHUMG00000086796
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFNB8; DFNB10; ECHOS1; TADG12
    Summary
    This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
    Orthologs
    Location:
    21q22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 21 NC_000021.9 (42371887..42396846, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (43791996..43816955, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372815 Neighboring gene trefoil factor 2 Neighboring gene trefoil factor 1 Neighboring gene ubiquitin associated and SH3 domain containing A Neighboring gene RNA, U6 small nuclear 1149, pseudogene Neighboring gene radial spoke head 1 homolog

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: TFF1

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    scavenger receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type endopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    sodium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular sodium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    receptor-mediated endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of molecular function IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    transmembrane protease serine 3
    Names
    serine protease TADG-12
    tumor-associated differentially-expressed gene 12 protein
    NP_001243246.1
    NP_076927.1
    NP_115780.1
    NP_115781.1

    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.

    Genomic

    1. NG_011629.1 RefSeqGene

      Range
      5001..29205
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256317.1NP_001243246.1  transmembrane protease serine 3 isoform 4

      See identical proteins and their annotated locations for NP_001243246.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (F) uses an alternate in-frame splice site in the central coding region, compared to variant A, resulting in an isoform (4) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AB038157, AB038159, AI251446, AK172842, AY358458
      Consensus CDS
      CCDS58790.1
      UniProtKB/Swiss-Prot
      P57727
      Related
      ENSP00000411013.2, OTTHUMP00000109344, ENST00000433957.6, OTTHUMT00000195348
      Conserved Domains (4) summary
      smart00020
      Location:216443
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:74107
      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:217446
      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:112210
      SRCR_2; Scavenger receptor cysteine-rich domain
    2. NM_024022.2NP_076927.1  transmembrane protease serine 3 isoform 1

      See identical proteins and their annotated locations for NP_076927.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) encodes the longest isoform (1).
      Source sequence(s)
      AB038157, AI251446, AK172842
      Consensus CDS
      CCDS13686.1
      UniProtKB/Swiss-Prot
      P57727
      Related
      ENSP00000291532.3, OTTHUMP00000109343, ENST00000291532.7, OTTHUMT00000195347
      Conserved Domains (4) summary
      smart00020
      Location:216444
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:74107
      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:217447
      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:112210
      SRCR_2; Scavenger receptor cysteine-rich domain
    3. NM_032404.2NP_115780.1  transmembrane protease serine 3 isoform 2

      See identical proteins and their annotated locations for NP_115780.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (C) lacks several 5' exons but contains an alternate 5' exon, differs in the 5' UTR, and uses a downstream in-frame start codon, compared to variant A. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AB038159, AI251446, AK172842, DA643571
      UniProtKB/Swiss-Prot
      P57727
      Conserved Domains (3) summary
      smart00020
      Location:89317
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:90320
      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:183
      SRCR_2; Scavenger receptor cysteine-rich domain
    4. NM_032405.1NP_115781.1  transmembrane protease serine 3 isoform 3

      See identical proteins and their annotated locations for NP_115781.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (D) lacks several 3' exons, but includes an alternate 3' exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant A. The encoded isoform (3) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AB038160
      Consensus CDS
      CCDS42939.1
      UniProtKB/Swiss-Prot
      P57727
      Related
      ENSP00000381434.3, OTTHUMP00000109345, ENST00000398397.3, OTTHUMT00000195349
      Conserved Domains (4) summary
      smart00020
      Location:216324
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:74107
      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:217337
      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:112210
      SRCR_2; Scavenger receptor cysteine-rich domain

    RNA

    1. NR_046020.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (G), which is also known as TMPRSS3e in PMID:15447792, contains a significantly longer 5' exon and appears to use an upstream promoter, compared to variant A. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest in-frame ORF. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI251446, AK172842, AY633572

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

      Range
      42371887..42396846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      43352168..43377125 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032401.1: Suppressed sequence

      Description
      NM_032401.1: This RefSeq was permanently suppressed because it is now thought that this transcript does not encode a protein.
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