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Entry version 182 (18 Sep 2019)
Sequence version 2 (21 Feb 2001)
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Protein

Transmembrane protease serine 3

Gene

TMPRSS3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell 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)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei257Charge relay systemBy similarity1
Active sitei304Charge relay systemBy similarity1
Active sitei401Charge relay systemCurated1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease, Serine protease

Protein family/group databases

MEROPS protease database

More...
MEROPSi
S01.079

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TMPRSS3
Synonyms:ECHOS1, TADG12
ORF Names:UNQ323/PRO382
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 21

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11877 TMPRSS3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605511 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P57727

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 48CytoplasmicSequence analysisAdd BLAST48
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei49 – 69Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini70 – 454ExtracellularSequence analysisAdd BLAST385

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 8 (DFNB8)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013490103D → G in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 PublicationsCorresponds to variant dbSNP:rs387906915EnsemblClinVar.1
Natural variantiVAR_013491109R → W in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 PublicationsCorresponds to variant dbSNP:rs201632198EnsemblClinVar.1
Natural variantiVAR_013494194C → F in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 PublicationsCorresponds to variant dbSNP:rs1333651774Ensembl.1
Natural variantiVAR_025354216R → L in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 1 PublicationCorresponds to variant dbSNP:rs137853000EnsemblClinVar.1
Natural variantiVAR_011678251W → C in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 PublicationsCorresponds to variant dbSNP:rs137852999EnsemblClinVar.1
Natural variantiVAR_011679404P → L in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 3 PublicationsCorresponds to variant dbSNP:rs28939084EnsemblClinVar.1
Natural variantiVAR_013495407C → R in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 PublicationsCorresponds to variant dbSNP:rs773780151Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi401S → A: Fails to undergo proteolytic cleavage and is unable to activate ENaC. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
64699

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
TMPRSS3

MalaCards human disease database

More...
MalaCardsi
TMPRSS3
MIMi601072 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000160183

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36578

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMPRSS3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
13124582

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000886901 – 454Transmembrane protease serine 3Add BLAST454

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi73 ↔ 85By similarity
Disulfide bondi79 ↔ 98By similarity
Disulfide bondi92 ↔ 107By similarity
Disulfide bondi129 ↔ 194By similarity
Disulfide bondi142 ↔ 204By similarity
Disulfide bondi207 ↔ 324By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi221N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi242 ↔ 258By similarity
Disulfide bondi338 ↔ 407By similarity
Disulfide bondi370 ↔ 386By similarity
Disulfide bondi397 ↔ 425By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Undergoes autoproteolytic activation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei216 – 217CleavageSequence analysis2

Keywords - PTMi

Autocatalytic cleavage, Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P57727

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P57727

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P57727

PeptideAtlas

More...
PeptideAtlasi
P57727

PRoteomics IDEntifications database

More...
PRIDEi
P57727

ProteomicsDB human proteome resource

More...
ProteomicsDBi
57016 [P57727-1]
57017 [P57727-2]
57018 [P57727-3]
57019 [P57727-4]
57020 [P57727-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P57727

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P57727

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000160183 Expressed in 143 organ(s), highest expression level in oviduct epithelium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P57727 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P57727 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122236, 38 interactors

Protein interaction database and analysis system

More...
IntActi
P57727, 32 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000291532

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P57727

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini72 – 108LDL-receptor class APROSITE-ProRule annotationAdd BLAST37
Domaini109 – 205SRCRPROSITE-ProRule annotationAdd BLAST97
Domaini217 – 449Peptidase S1PROSITE-ProRule annotationAdd BLAST233

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase S1 family.PROSITE-ProRule annotation

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3627 Eukaryota
COG5640 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158589

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000251822

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P57727

KEGG Orthology (KO)

More...
KOi
K09634

Identification of Orthologs from Complete Genome Data

More...
OMAi
VEKIVYH

Database of Orthologous Groups

More...
OrthoDBi
1314811at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P57727

TreeFam database of animal gene trees

More...
TreeFami
TF351678

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00112 LDLa, 1 hit
cd00190 Tryp_SPc, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.10.250.10, 1 hit
4.10.400.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR001190 SRCR
IPR017448 SRCR-like_dom
IPR036772 SRCR-like_dom_sf
IPR001254 Trypsin_dom
IPR018114 TRYPSIN_HIS
IPR033116 TRYPSIN_SER

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00057 Ldl_recept_a, 1 hit
PF15494 SRCR_2, 1 hit
PF00089 Trypsin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00722 CHYMOTRYPSIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00192 LDLa, 1 hit
SM00202 SR, 1 hit
SM00020 Tryp_SPc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50494 SSF50494, 1 hit
SSF56487 SSF56487, 1 hit
SSF57424 SSF57424, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
        10         20         30         40         50
MGENDPPAVE APFSFRSLFG LDDLKISPVA PDADAVAAQI LSLLPLKFFP
60 70 80 90 100
IIVIGIIALI LALAIGLGIH FDCSGKYRCR SSFKCIELIA RCDGVSDCKD
110 120 130 140 150
GEDEYRCVRV GGQNAVLQVF TAASWKTMCS DDWKGHYANV ACAQLGFPSY
160 170 180 190 200
VSSDNLRVSS LEGQFREEFV SIDHLLPDDK VTALHHSVYV REGCASGHVV
210 220 230 240 250
TLQCTACGHR RGYSSRIVGG NMSLLSQWPW QASLQFQGYH LCGGSVITPL
260 270 280 290 300
WIITAAHCVY DLYLPKSWTI QVGLVSLLDN PAPSHLVEKI VYHSKYKPKR
310 320 330 340 350
LGNDIALMKL AGPLTFNEMI QPVCLPNSEE NFPDGKVCWT SGWGATEDGA
360 370 380 390 400
GDASPVLNHA AVPLISNKIC NHRDVYGGII SPSMLCAGYL TGGVDSCQGD
410 420 430 440 450
SGGPLVCQER RLWKLVGATS FGIGCAEVNK PGVYTRVTSF LDWIHEQMER

DLKT
Length:454
Mass (Da):49,405
Last modified:February 21, 2001 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7WPR2B7WPR2_HUMAN
Transmembrane protease serine 3
TMPRSS3
451Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti46 – 54LKFFPIIVI → FEVFSQSSSL in AAG37012 (PubMed:11068177).Curated9
Sequence conflicti90A → T in AAG37012 (PubMed:11068177).Curated1
Sequence conflicti369 – 395ICNHR…TGGVD → DLQPQGRVRWHHLPLHALRG LPDGWRWN in AAG37012 (PubMed:11068177).CuratedAdd BLAST27
Sequence conflicti427E → D in AAG37012 (PubMed:11068177).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01078153V → I2 PublicationsCorresponds to variant dbSNP:rs928302EnsemblClinVar.1
Natural variantiVAR_013490103D → G in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 PublicationsCorresponds to variant dbSNP:rs387906915EnsemblClinVar.1
Natural variantiVAR_013491109R → W in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 PublicationsCorresponds to variant dbSNP:rs201632198EnsemblClinVar.1
Natural variantiVAR_013492111G → S1 PublicationCorresponds to variant dbSNP:rs35227181EnsemblClinVar.1
Natural variantiVAR_013493173D → N1 PublicationCorresponds to variant dbSNP:rs766000719Ensembl.1
Natural variantiVAR_013494194C → F in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 PublicationsCorresponds to variant dbSNP:rs1333651774Ensembl.1
Natural variantiVAR_025354216R → L in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 1 PublicationCorresponds to variant dbSNP:rs137853000EnsemblClinVar.1
Natural variantiVAR_011678251W → C in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 PublicationsCorresponds to variant dbSNP:rs137852999EnsemblClinVar.1
Natural variantiVAR_013101253I → V1 PublicationCorresponds to variant dbSNP:rs2839500EnsemblClinVar.1
Natural variantiVAR_011679404P → L in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 3 PublicationsCorresponds to variant dbSNP:rs28939084EnsemblClinVar.1
Natural variantiVAR_013495407C → R in DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC. 2 PublicationsCorresponds to variant dbSNP:rs773780151Ensembl.1
Natural variantiVAR_013496426A → T1 PublicationCorresponds to variant dbSNP:rs56264519EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0053911 – 127Missing in isoform B. 1 PublicationAdd BLAST127
Alternative sequenceiVSP_0476951M → MQAVGPKPLPTLLCGGRTGH RTARVLSFLIRSCPCEPGKG CVYGKPVTLWPTISSVVPST FLGLGNYEVEVEAEPDVRGP EIVTM in isoform 6. 1 Publication1
Alternative sequenceiVSP_005393261 – 293DLYLP…KIVYH → EIVAPRERADRRGRKLLCWR KPTKMKGPRPSHS in isoform T. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_005394294 – 454Missing in isoform T. 1 PublicationAdd BLAST161
Alternative sequenceiVSP_005392318 – 454EMIQP…RDLKT → GTSGSLCGSAALPLFQEDLQ LLIEAFL in isoform D. 1 PublicationAdd BLAST137
Alternative sequenceiVSP_013184350Missing in isoform E. 4 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13686.1 [P57727-1]
CCDS42939.1 [P57727-3]
CCDS58790.1 [P57727-5]

NCBI Reference Sequences

More...
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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000398397; ENSP00000381434; ENSG00000160183 [P57727-3]
ENST00000433957; ENSP00000411013; ENSG00000160183 [P57727-1]
ENST00000644384; ENSP00000494414; ENSG00000160183 [P57727-5]
ENST00000652415; ENSP00000498756; ENSG00000160183 [P57727-5]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64699

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64699

UCSC genome browser

More...
UCSCi
uc002zbc.4 human [P57727-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]

3D structure databases

SMRiP57727
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122236, 38 interactors
IntActiP57727, 32 interactors
STRINGi9606.ENSP00000291532

Protein family/group databases

MEROPSiS01.079

PTM databases

iPTMnetiP57727
PhosphoSitePlusiP57727

Polymorphism and mutation databases

BioMutaiTMPRSS3
DMDMi13124582

Proteomic databases

jPOSTiP57727
MassIVEiP57727
PaxDbiP57727
PeptideAtlasiP57727
PRIDEiP57727
ProteomicsDBi57016 [P57727-1]
57017 [P57727-2]
57018 [P57727-3]
57019 [P57727-4]
57020 [P57727-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000398397; ENSP00000381434; ENSG00000160183 [P57727-3]
ENST00000433957; ENSP00000411013; ENSG00000160183 [P57727-1]
ENST00000644384; ENSP00000494414; ENSG00000160183 [P57727-5]
ENST00000652415; ENSP00000498756; ENSG00000160183 [P57727-5]
GeneIDi64699
KEGGihsa:64699
UCSCiuc002zbc.4 human [P57727-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64699
DisGeNETi64699

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TMPRSS3
GeneReviewsiTMPRSS3
HGNCiHGNC:11877 TMPRSS3
MalaCardsiTMPRSS3
MIMi601072 phenotype
605511 gene
neXtProtiNX_P57727
OpenTargetsiENSG00000160183
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA36578

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3627 Eukaryota
COG5640 LUCA
GeneTreeiENSGT00940000158589
HOGENOMiHOG000251822
InParanoidiP57727
KOiK09634
OMAiVEKIVYH
OrthoDBi1314811at2759
PhylomeDBiP57727
TreeFamiTF351678

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TMPRSS3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TMPRSS3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
64699

Pharos

More...
Pharosi
P57727

Protein Ontology

More...
PROi
PR:P57727

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000160183 Expressed in 143 organ(s), highest expression level in oviduct epithelium
ExpressionAtlasiP57727 baseline and differential
GenevisibleiP57727 HS

Family and domain databases

CDDicd00112 LDLa, 1 hit
cd00190 Tryp_SPc, 1 hit
Gene3Di3.10.250.10, 1 hit
4.10.400.10, 1 hit
InterProiView protein in InterPro
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR001190 SRCR
IPR017448 SRCR-like_dom
IPR036772 SRCR-like_dom_sf
IPR001254 Trypsin_dom
IPR018114 TRYPSIN_HIS
IPR033116 TRYPSIN_SER
PfamiView protein in Pfam
PF00057 Ldl_recept_a, 1 hit
PF15494 SRCR_2, 1 hit
PF00089 Trypsin, 1 hit
PRINTSiPR00722 CHYMOTRYPSIN
SMARTiView protein in SMART
SM00192 LDLa, 1 hit
SM00202 SR, 1 hit
SM00020 Tryp_SPc, 1 hit
SUPFAMiSSF50494 SSF50494, 1 hit
SSF56487 SSF56487, 1 hit
SSF57424 SSF57424, 1 hit
PROSITEiView protein in PROSITE
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTMPS3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P57727
Secondary accession number(s): D3DSJ6, Q5USC7, Q6ZMC3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: February 21, 2001
Last modified: September 18, 2019
This is version 182 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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