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P57727

- TMPS3_HUMAN

UniProt

P57727 - TMPS3_HUMAN

Protein

Transmembrane protease serine 3

Gene

TMPRSS3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 2 (21 Feb 2001)
      Previous versions | rss
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    Functioni

    Probable serine protease that play a role in hearing. 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 By similarity. Activates ENaC (in vitro).By similarity1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei216 – 2172CleavageSequence Analysis
    Active sitei257 – 2571Charge relay systemBy similarity
    Active sitei304 – 3041Charge relay systemBy similarity
    Active sitei401 – 4011Charge relay systemCurated

    GO - Molecular functioni

    1. scavenger receptor activity Source: InterPro
    2. serine-type endopeptidase activity Source: UniProtKB
    3. sodium channel regulator activity Source: MGI

    GO - Biological processi

    1. cellular sodium ion homeostasis Source: MGI
    2. proteolysis Source: UniProtKB
    3. sensory perception of sound Source: Ensembl

    Keywords - Molecular functioni

    Hydrolase, Protease, Serine protease

    Protein family/group databases

    MEROPSiS01.079.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane protease serine 3 (EC:3.4.21.-)
    Alternative name(s):
    Serine protease TADG-12
    Tumor-associated differentially-expressed gene 12 protein
    Gene namesi
    Name:TMPRSS3
    Synonyms:ECHOS1, TADG12
    ORF Names:UNQ323/PRO382
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:11877. TMPRSS3.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Single-pass type II membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. endoplasmic reticulum membrane Source: UniProtKB
    3. integral component of membrane Source: UniProtKB
    4. neuronal cell body Source: Ensembl

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi401 – 4011S → A: Fails to undergo proteolytic cleavage and is unable to activate ENaC. 1 Publication

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness

    Organism-specific databases

    MIMi601072. phenotype.
    Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBiPA36578.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 454454Transmembrane protease serine 3PRO_0000088690Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi73 ↔ 85By similarity
    Disulfide bondi79 ↔ 98By similarity
    Disulfide bondi92 ↔ 107By similarity
    Disulfide bondi129 ↔ 194By similarity
    Disulfide bondi142 ↔ 204By similarity
    Disulfide bondi207 ↔ 324By similarity
    Glycosylationi221 – 2211N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi242 ↔ 258By similarity
    Disulfide bondi338 ↔ 407By similarity
    Disulfide bondi370 ↔ 386By similarity
    Disulfide bondi397 ↔ 425By similarity

    Post-translational modificationi

    Undergoes autoproteolytic activation.

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Zymogen

    Proteomic databases

    PaxDbiP57727.
    PRIDEiP57727.

    PTM databases

    PhosphoSiteiP57727.

    Expressioni

    Tissue specificityi

    Expressed in many tissues including fetal cochlea. Isoform T is found at increased levels in some carcinomas.

    Gene expression databases

    ArrayExpressiP57727.
    BgeeiP57727.
    CleanExiHS_TMPRSS3.
    GenevestigatoriP57727.

    Organism-specific databases

    HPAiHPA031305.

    Interactioni

    Protein-protein interaction databases

    BioGridi122236. 4 interactions.
    IntActiP57727. 3 interactions.
    MINTiMINT-1379704.
    STRINGi9606.ENSP00000291532.

    Structurei

    3D structure databases

    ProteinModelPortaliP57727.
    SMRiP57727. Positions 108-449.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4848CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini70 – 454385ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei49 – 6921Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini72 – 10837LDL-receptor class APROSITE-ProRule annotationAdd
    BLAST
    Domaini109 – 20597SRCRPROSITE-ProRule annotationAdd
    BLAST
    Domaini217 – 449233Peptidase S1PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the peptidase S1 family.PROSITE-ProRule annotation
    Contains 1 LDL-receptor class A domain.PROSITE-ProRule annotation
    Contains 1 peptidase S1 domain.PROSITE-ProRule annotation
    Contains 1 SRCR domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG5640.
    HOGENOMiHOG000251822.
    HOVERGENiHBG013304.
    InParanoidiP57727.
    KOiK09634.
    OMAiVITPLWI.
    PhylomeDBiP57727.
    TreeFamiTF351678.

    Family and domain databases

    Gene3Di3.10.250.10. 1 hit.
    4.10.400.10. 1 hit.
    InterProiIPR023415. LDLR_class-A_CS.
    IPR002172. LDrepeatLR_classA_rpt.
    IPR001254. Peptidase_S1.
    IPR018114. Peptidase_S1_AS.
    IPR001314. Peptidase_S1A.
    IPR001190. SRCR.
    IPR017448. SRCR-like_dom.
    IPR009003. Trypsin-like_Pept_dom.
    [Graphical view]
    PfamiPF00057. Ldl_recept_a. 1 hit.
    PF00089. Trypsin. 1 hit.
    [Graphical view]
    PRINTSiPR00722. CHYMOTRYPSIN.
    SMARTiSM00192. LDLa. 1 hit.
    SM00202. SR. 1 hit.
    SM00020. Tryp_SPc. 1 hit.
    [Graphical view]
    SUPFAMiSSF50494. SSF50494. 1 hit.
    SSF56487. SSF56487. 1 hit.
    SSF57424. SSF57424. 1 hit.
    PROSITEiPS01209. LDLRA_1. 1 hit.
    PS50068. LDLRA_2. 1 hit.
    PS00420. SRCR_1. 1 hit.
    PS50287. SRCR_2. 1 hit.
    PS50240. TRYPSIN_DOM. 1 hit.
    PS00134. TRYPSIN_HIS. 1 hit.
    PS00135. TRYPSIN_SER. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: P57727-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGENDPPAVE APFSFRSLFG LDDLKISPVA PDADAVAAQI LSLLPLKFFP    50
    IIVIGIIALI LALAIGLGIH FDCSGKYRCR SSFKCIELIA RCDGVSDCKD 100
    GEDEYRCVRV GGQNAVLQVF TAASWKTMCS DDWKGHYANV ACAQLGFPSY 150
    VSSDNLRVSS LEGQFREEFV SIDHLLPDDK VTALHHSVYV REGCASGHVV 200
    TLQCTACGHR RGYSSRIVGG NMSLLSQWPW QASLQFQGYH LCGGSVITPL 250
    WIITAAHCVY DLYLPKSWTI QVGLVSLLDN PAPSHLVEKI VYHSKYKPKR 300
    LGNDIALMKL AGPLTFNEMI QPVCLPNSEE NFPDGKVCWT SGWGATEDGA 350
    GDASPVLNHA AVPLISNKIC NHRDVYGGII SPSMLCAGYL TGGVDSCQGD 400
    SGGPLVCQER RLWKLVGATS FGIGCAEVNK PGVYTRVTSF LDWIHEQMER 450
    DLKT 454
    Length:454
    Mass (Da):49,405
    Last modified:February 21, 2001 - v2
    Checksum:i57ECC3678F7D6AFF
    GO
    Isoform B (identifier: P57727-2) [UniParc]FASTAAdd to Basket

    Also known as: C

    The sequence of this isoform differs from the canonical sequence as follows:
         1-127: Missing.

    Show »
    Length:327
    Mass (Da):35,760
    Checksum:iCF6A6505C4B9A6B9
    GO
    Isoform D (identifier: P57727-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         318-454: EMIQPVCLPN...HEQMERDLKT → GTSGSLCGSAALPLFQEDLQLLIEAFL

    Show »
    Length:344
    Mass (Da):37,497
    Checksum:iFCE5335794AF9712
    GO
    Isoform T (identifier: P57727-4) [UniParc]FASTAAdd to Basket

    Also known as: Truncated, TADG-12V

    The sequence of this isoform differs from the canonical sequence as follows:
         261-293: DLYLPKSWTIQVGLVSLLDNPAPSHLVEKIVYH → EIVAPRERADRRGRKLLCWRKPTKMKGPRPSHS
         294-454: Missing.

    Show »
    Length:293
    Mass (Da):32,230
    Checksum:iCF9C0540F570B900
    GO
    Isoform E (identifier: P57727-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         350-350: Missing.

    Show »
    Length:453
    Mass (Da):49,334
    Checksum:i90D46870BFA39B86
    GO
    Isoform 6 (identifier: P57727-6) [UniParc]FASTAAdd to Basket

    Also known as: TMPRSS3e

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MQAVGPKPLP...DVRGPEIVTM

    Note: Has a predicted N-terminal signal sequence, indicating it may be secreted. Expressed in retina, lung, liver, pancreas, placenta and kidney.

    Show »
    Length:538
    Mass (Da):58,324
    Checksum:iEC7E6FDAA5B7ED9B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti46 – 549LKFFPIIVI → FEVFSQSSSL in AAG37012. (PubMed:11068177)Curated
    Sequence conflicti90 – 901A → T in AAG37012. (PubMed:11068177)Curated
    Sequence conflicti369 – 39527ICNHR…TGGVD → DLQPQGRVRWHHLPLHALRG LPDGWRWN in AAG37012. (PubMed:11068177)CuratedAdd
    BLAST
    Sequence conflicti427 – 4271E → D in AAG37012. (PubMed:11068177)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531V → I.2 Publications
    Corresponds to variant rs928302 [ dbSNP | Ensembl ].
    VAR_010781
    Natural varianti103 – 1031D → G in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 1 Publication
    VAR_013490
    Natural varianti109 – 1091R → W in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 1 Publication
    VAR_013491
    Natural varianti111 – 1111G → S.1 Publication
    Corresponds to variant rs35227181 [ dbSNP | Ensembl ].
    VAR_013492
    Natural varianti173 – 1731D → N.1 Publication
    VAR_013493
    Natural varianti194 – 1941C → F in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 1 Publication
    VAR_013494
    Natural varianti216 – 2161R → L in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 1 Publication
    Corresponds to variant rs137853000 [ dbSNP | Ensembl ].
    VAR_025354
    Natural varianti251 – 2511W → C in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 1 Publication
    VAR_011678
    Natural varianti253 – 2531I → V.1 Publication
    Corresponds to variant rs2839500 [ dbSNP | Ensembl ].
    VAR_013101
    Natural varianti404 – 4041P → L in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 Publications
    VAR_011679
    Natural varianti407 – 4071C → R in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 1 Publication
    VAR_013495
    Natural varianti426 – 4261A → T.1 Publication
    Corresponds to variant rs56264519 [ dbSNP | Ensembl ].
    VAR_013496

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 127127Missing in isoform B. 1 PublicationVSP_005391Add
    BLAST
    Alternative sequencei1 – 11M → MQAVGPKPLPTLLCGGRTGH RTARVLSFLIRSCPCEPGKG CVYGKPVTLWPTISSVVPST FLGLGNYEVEVEAEPDVRGP EIVTM in isoform 6. 1 PublicationVSP_047695
    Alternative sequencei261 – 29333DLYLP…KIVYH → EIVAPRERADRRGRKLLCWR KPTKMKGPRPSHS in isoform T. 1 PublicationVSP_005393Add
    BLAST
    Alternative sequencei294 – 454161Missing in isoform T. 1 PublicationVSP_005394Add
    BLAST
    Alternative sequencei318 – 454137EMIQP…RDLKT → GTSGSLCGSAALPLFQEDLQ LLIEAFL in isoform D. 1 PublicationVSP_005392Add
    BLAST
    Alternative sequencei350 – 3501Missing in isoform E. 4 PublicationsVSP_013184

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF201380 mRNA. Translation: AAG37012.1.
    AB038157 mRNA. Translation: BAB20077.1.
    AB038158 mRNA. Translation: BAB20078.1.
    AB038159 mRNA. Translation: BAB20079.1.
    AB038160 mRNA. Translation: BAB20080.1.
    AY633572 mRNA. Translation: AAT66641.1.
    AY358458 mRNA. Translation: AAQ88823.1.
    AK172842 mRNA. Translation: BAD18806.1.
    AP001623 Genomic DNA. No translation available.
    CH471079 Genomic DNA. Translation: EAX09564.1.
    CH471079 Genomic DNA. Translation: EAX09566.1.
    BC074846 mRNA. Translation: AAH74846.1.
    BC074847 mRNA. Translation: AAH74847.1.
    CCDSiCCDS13686.1. [P57727-1]
    CCDS42939.1. [P57727-3]
    CCDS58790.1. [P57727-5]
    RefSeqiNP_001243246.1. NM_001256317.1. [P57727-5]
    NP_076927.1. NM_024022.2. [P57727-1]
    NP_115780.1. NM_032404.2. [P57727-2]
    NP_115781.1. NM_032405.1. [P57727-3]
    UniGeneiHs.208600.

    Genome annotation databases

    EnsembliENST00000291532; ENSP00000291532; ENSG00000160183. [P57727-1]
    ENST00000398397; ENSP00000381434; ENSG00000160183. [P57727-3]
    ENST00000433957; ENSP00000411013; ENSG00000160183. [P57727-5]
    GeneIDi64699.
    KEGGihsa:64699.
    UCSCiuc002zay.2. human. [P57727-2]
    uc002zaz.3. human. [P57727-1]
    uc002zbc.3. human. [P57727-5]
    uc002zbd.4. human. [P57727-3]

    Polymorphism databases

    DMDMi13124582.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF201380 mRNA. Translation: AAG37012.1 .
    AB038157 mRNA. Translation: BAB20077.1 .
    AB038158 mRNA. Translation: BAB20078.1 .
    AB038159 mRNA. Translation: BAB20079.1 .
    AB038160 mRNA. Translation: BAB20080.1 .
    AY633572 mRNA. Translation: AAT66641.1 .
    AY358458 mRNA. Translation: AAQ88823.1 .
    AK172842 mRNA. Translation: BAD18806.1 .
    AP001623 Genomic DNA. No translation available.
    CH471079 Genomic DNA. Translation: EAX09564.1 .
    CH471079 Genomic DNA. Translation: EAX09566.1 .
    BC074846 mRNA. Translation: AAH74846.1 .
    BC074847 mRNA. Translation: AAH74847.1 .
    CCDSi CCDS13686.1. [P57727-1 ]
    CCDS42939.1. [P57727-3 ]
    CCDS58790.1. [P57727-5 ]
    RefSeqi NP_001243246.1. NM_001256317.1. [P57727-5 ]
    NP_076927.1. NM_024022.2. [P57727-1 ]
    NP_115780.1. NM_032404.2. [P57727-2 ]
    NP_115781.1. NM_032405.1. [P57727-3 ]
    UniGenei Hs.208600.

    3D structure databases

    ProteinModelPortali P57727.
    SMRi P57727. Positions 108-449.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122236. 4 interactions.
    IntActi P57727. 3 interactions.
    MINTi MINT-1379704.
    STRINGi 9606.ENSP00000291532.

    Protein family/group databases

    MEROPSi S01.079.

    PTM databases

    PhosphoSitei P57727.

    Polymorphism databases

    DMDMi 13124582.

    Proteomic databases

    PaxDbi P57727.
    PRIDEi P57727.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000291532 ; ENSP00000291532 ; ENSG00000160183 . [P57727-1 ]
    ENST00000398397 ; ENSP00000381434 ; ENSG00000160183 . [P57727-3 ]
    ENST00000433957 ; ENSP00000411013 ; ENSG00000160183 . [P57727-5 ]
    GeneIDi 64699.
    KEGGi hsa:64699.
    UCSCi uc002zay.2. human. [P57727-2 ]
    uc002zaz.3. human. [P57727-1 ]
    uc002zbc.3. human. [P57727-5 ]
    uc002zbd.4. human. [P57727-3 ]

    Organism-specific databases

    CTDi 64699.
    GeneCardsi GC21M043791.
    GeneReviewsi TMPRSS3.
    HGNCi HGNC:11877. TMPRSS3.
    HPAi HPA031305.
    MIMi 601072. phenotype.
    605511. gene.
    neXtProti NX_P57727.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBi PA36578.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5640.
    HOGENOMi HOG000251822.
    HOVERGENi HBG013304.
    InParanoidi P57727.
    KOi K09634.
    OMAi VITPLWI.
    PhylomeDBi P57727.
    TreeFami TF351678.

    Miscellaneous databases

    GeneWikii TMPRSS3.
    GenomeRNAii 64699.
    NextBioi 66629.
    PROi P57727.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P57727.
    Bgeei P57727.
    CleanExi HS_TMPRSS3.
    Genevestigatori P57727.

    Family and domain databases

    Gene3Di 3.10.250.10. 1 hit.
    4.10.400.10. 1 hit.
    InterProi IPR023415. LDLR_class-A_CS.
    IPR002172. LDrepeatLR_classA_rpt.
    IPR001254. Peptidase_S1.
    IPR018114. Peptidase_S1_AS.
    IPR001314. Peptidase_S1A.
    IPR001190. SRCR.
    IPR017448. SRCR-like_dom.
    IPR009003. Trypsin-like_Pept_dom.
    [Graphical view ]
    Pfami PF00057. Ldl_recept_a. 1 hit.
    PF00089. Trypsin. 1 hit.
    [Graphical view ]
    PRINTSi PR00722. CHYMOTRYPSIN.
    SMARTi SM00192. LDLa. 1 hit.
    SM00202. SR. 1 hit.
    SM00020. Tryp_SPc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50494. SSF50494. 1 hit.
    SSF56487. SSF56487. 1 hit.
    SSF57424. SSF57424. 1 hit.
    PROSITEi PS01209. LDLRA_1. 1 hit.
    PS50068. LDLRA_2. 1 hit.
    PS00420. SRCR_1. 1 hit.
    PS50287. SRCR_2. 1 hit.
    PS50240. TRYPSIN_DOM. 1 hit.
    PS00134. TRYPSIN_HIS. 1 hit.
    PS00135. TRYPSIN_SER. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; E AND T).
      Tissue: Ovarian carcinoma.
    2. "Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness."
      Scott H.S., Kudoh J., Wattenhofer M., Shibuya K., Berry A., Chrast R., Guipponi M., Wang J., Kawasaki K., Asakawa S., Minoshima S., Younus F., Mehdi S.Q., Radhakrishna U., Papasavvas M.P., Gehrig C., Rossier C., Korostishevsky M.
      , Gal A., Shimizu N., Bonne-Tamir B., Antonarakis S.E.
      Nat. Genet. 27:59-63(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND D), VARIANT ILE-53.
    3. "Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan."
      Ahmed Z.M., Li X.C., Powell S.D., Riazuddin S., Young T.L., Ramzan K., Ahmad Z., Luscombe S., Dhillon K., MacLaren L., Ploplis B., Shotland L.I., Ives E., Riazuddin S., Friedman T.B., Morell R.J., Wilcox E.R.
      BMC Med. Genet. 5:24-24(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6), INVOLVEMENT IN DFBN8.
      Tissue: Retina.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM E).
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM E).
    6. "The DNA sequence of human chromosome 21."
      Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
      , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
      Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND E).
      Tissue: Lung.
    9. Cited for: SUBCELLULAR LOCATION, AUTOCATALYTIC CLEAVAGE, MUTAGENESIS OF SER-401, CHARACTERIZATION OF VARIANTS DFBN8 GLY-103; TRP-109; PHE-194; CYS-251; LEU-404 AND ARG-407, FUNCTION IN ENAC CLEAVAGE.
    10. "Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness."
      Masmoudi S., Antonarakis S.E., Schwede T., Ghorbel A.M., Gratri M., Pappasavas M.P., Drira M., Elgaied-Boulila A., Wattenhofer M., Rossier C., Scott H.S., Ayadi H., Guipponi M.
      Hum. Mutat. 18:101-108(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DFBN8 CYS-251 AND LEU-404.
    11. Cited for: VARIANTS DFBN8 TRP-109; PHE-194 AND ARG-407, VARIANTS ILE-53; SER-111 AND VAL-253.
    12. Cited for: VARIANT DFBN8 GLY-103, VARIANTS ASN-173 AND THR-426.
    13. "A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein."
      Wattenhofer M., Sahin-Calapoglu N., Andreasen D., Kalay E., Caylan R., Braillard B., Fowler-Jaeger N., Reymond A., Rossier B.C., Karaguzel A., Antonarakis S.E.
      Hum. Genet. 117:528-535(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DFBN8 LEU-216 AND LEU-404.

    Entry informationi

    Entry nameiTMPS3_HUMAN
    AccessioniPrimary (citable) accession number: P57727
    Secondary accession number(s): D3DSJ6, Q5USC7, Q6ZMC3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: February 21, 2001
    Last modified: October 1, 2014
    This is version 143 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 21
      Human chromosome 21: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Peptidase families
      Classification of peptidase families and list of entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3