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

Gene ID: 64699, updated on 5-Apr-2015
Official Symbol
TMPRSS3provided by HGNC
Official Full Name
transmembrane protease, serine 3provided by HGNC
Primary source
HGNC:HGNC:11877
See related
Ensembl:ENSG00000160183; HPRD:05696; 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
See TMPRSS3 in MapViewer
Location:
21q22.3
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC101930249 Neighboring gene trefoil factor 1 Neighboring gene ubiquitin associated and SH3 domain containing A Neighboring gene radial spoke head 1 homolog (Chlamydomonas)

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
 
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
transmembrane protease serine 3
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
    4246..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, OTTHUMP00000109344, ENST00000433957, 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:112211
    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
    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:112211
    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:184
    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, OTTHUMP00000109345, ENST00000398397, 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:112211
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 Alternate CHM1_1.1

    Range
    43352168..43377125
    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.