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P57727

- TMPS3_HUMAN

UniProt

P57727 - TMPS3_HUMAN

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Protein

Transmembrane protease serine 3

Gene
TMPRSS3, ECHOS1, TADG12, UNQ323/PRO382
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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).1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei216 – 2172Cleavage Reviewed prediction
Active sitei257 – 2571Charge relay system By similarity
Active sitei304 – 3041Charge relay system By similarity
Active sitei401 – 4011Charge relay system Inferred

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
Complete GO annotation...

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; Single-pass type II membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4848Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei49 – 6921Helical; Signal-anchor for type II membrane protein; Reviewed predictionAdd
BLAST
Topological domaini70 – 454385Extracellular Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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 ↔ 85 By similarity
Disulfide bondi79 ↔ 98 By similarity
Disulfide bondi92 ↔ 107 By similarity
Disulfide bondi129 ↔ 194 By similarity
Disulfide bondi142 ↔ 204 By similarity
Disulfide bondi207 ↔ 324 By similarity
Glycosylationi221 – 2211N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi242 ↔ 258 By similarity
Disulfide bondi338 ↔ 407 By similarity
Disulfide bondi370 ↔ 386 By similarity
Disulfide bondi397 ↔ 425 By 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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini72 – 10837LDL-receptor class AAdd
BLAST
Domaini109 – 20597SRCRAdd
BLAST
Domaini217 – 449233Peptidase S1Add
BLAST

Sequence similaritiesi

Belongs to the peptidase S1 family.
Contains 1 SRCR domain.

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

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. 2 Publications
VAR_013490
Natural varianti109 – 1091R → W in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 Publications
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. 2 Publications
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. 2 Publications
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. 3 Publications
VAR_011679
Natural varianti407 – 4071C → R in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 Publications
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. VSP_005391Add
BLAST
Alternative sequencei1 – 11M → MQAVGPKPLPTLLCGGRTGH RTARVLSFLIRSCPCEPGKG CVYGKPVTLWPTISSVVPST FLGLGNYEVEVEAEPDVRGP EIVTM in isoform 6. VSP_047695
Alternative sequencei261 – 29333DLYLP…KIVYH → EIVAPRERADRRGRKLLCWR KPTKMKGPRPSHS in isoform T. VSP_005393Add
BLAST
Alternative sequencei294 – 454161Missing in isoform T. VSP_005394Add
BLAST
Alternative sequencei318 – 454137EMIQP…RDLKT → GTSGSLCGSAALPLFQEDLQ LLIEAFL in isoform D. VSP_005392Add
BLAST
Alternative sequencei350 – 3501Missing in isoform E. VSP_013184

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti46 – 549LKFFPIIVI → FEVFSQSSSL in AAG37012. 1 Publication
Sequence conflicti90 – 901A → T in AAG37012. 1 Publication
Sequence conflicti369 – 39527ICNHR…TGGVD → DLQPQGRVRWHHLPLHALRG LPDGWRWN in AAG37012. 1 PublicationAdd
BLAST
Sequence conflicti427 – 4271E → D in AAG37012. 1 Publication

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]
ENST00000380399; ENSP00000369762; ENSG00000160183. [P57727-6]
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 ]
ENST00000380399 ; ENSP00000369762 ; ENSG00000160183 . [P57727-6 ]
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 142 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

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