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Protein

Transmembrane protease serine 5

Gene

TMPRSS5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May play a role in hearing.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei258Charge relay systemBy similarity1
Active sitei308Charge relay systemBy similarity1
Active sitei405Charge relay systemBy similarity1

GO - Molecular functioni

  • peptidase activity Source: UniProtKB
  • scavenger receptor activity Source: InterPro
  • serine-type endopeptidase activity Source: InterPro

GO - Biological processi

  • proteolysis Source: UniProtKB

Keywordsi

Molecular functionHydrolase, Protease, Serine protease

Protein family/group databases

MEROPSiS01.313

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protease serine 5 (EC:3.4.21.-)
Alternative name(s):
Spinesin
Gene namesi
Name:TMPRSS5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000166682.10
HGNCiHGNC:14908 TMPRSS5
MIMi606751 gene
neXtProtiNX_Q9H3S3

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 49CytoplasmicSequence analysisAdd BLAST49
Transmembranei50 – 70Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini71 – 457ExtracellularSequence analysisAdd BLAST387

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Defects in TMPRSS5 may be a cause of deafness.1 Publication

Organism-specific databases

OpenTargetsiENSG00000166682
PharmGKBiPA37920

Polymorphism and mutation databases

BioMutaiTMPRSS5
DMDMi296452845

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000886941 – 457Transmembrane protease serine 5Add BLAST457

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi135 ↔ 196PROSITE-ProRule annotation
Disulfide bondi148 ↔ 206PROSITE-ProRule annotation
Glycosylationi163N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi170N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi195N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi209 ↔ 328PROSITE-ProRule annotation
Disulfide bondi243 ↔ 259PROSITE-ProRule annotation
Glycosylationi319N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi342 ↔ 411PROSITE-ProRule annotation
Disulfide bondi374 ↔ 390PROSITE-ProRule annotation
Glycosylationi375N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi401 ↔ 429PROSITE-ProRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei217 – 218CleavageSequence analysis2

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9H3S3
PeptideAtlasiQ9H3S3
PRIDEiQ9H3S3
ProteomicsDBi80747

PTM databases

PhosphoSitePlusiQ9H3S3

Expressioni

Tissue specificityi

Brain-specific. Predominantly expressed in neurons, in their axons, and at the synapses of motoneurons in the spinal cord.

Gene expression databases

BgeeiENSG00000166682
CleanExiHS_TMPRSS5
ExpressionAtlasiQ9H3S3 baseline and differential
GenevisibleiQ9H3S3 HS

Organism-specific databases

HPAiHPA010992

Interactioni

Protein-protein interaction databases

BioGridi123345, 10 interactors
IntActiQ9H3S3, 1 interactor
STRINGi9606.ENSP00000299882

Structurei

3D structure databases

ProteinModelPortaliQ9H3S3
SMRiQ9H3S3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini112 – 207SRCRAdd BLAST96
Domaini218 – 453Peptidase S1PROSITE-ProRule annotationAdd BLAST236

Sequence similaritiesi

Belongs to the peptidase S1 family.PROSITE-ProRule annotation

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3627 Eukaryota
COG5640 LUCA
GeneTreeiENSGT00760000118962
HOGENOMiHOG000251822
HOVERGENiHBG013304
InParanoidiQ9H3S3
KOiK09636
OMAiGSRHTCG
OrthoDBiEOG091G0AH5
PhylomeDBiQ9H3S3
TreeFamiTF351678

Family and domain databases

CDDicd00190 Tryp_SPc, 1 hit
Gene3Di3.10.250.10, 1 hit
InterProiView protein in InterPro
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
PF15494 SRCR_2, 1 hit
PF00089 Trypsin, 1 hit
PRINTSiPR00722 CHYMOTRYPSIN
SMARTiView protein in SMART
SM00020 Tryp_SPc, 1 hit
SUPFAMiSSF50494 SSF50494, 1 hit
SSF56487 SSF56487, 1 hit
PROSITEiView protein in PROSITE
PS00420 SRCR_1, 1 hit
PS50240 TRYPSIN_DOM, 1 hit
PS00134 TRYPSIN_HIS, 1 hit
PS00135 TRYPSIN_SER, 1 hit

Sequencei

Sequence statusi: Complete.

Q9H3S3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSLMLDDQPP MEAQYAEEGP GPGIFRAEPG DQQHPISQAV CWRSMRRGCA
60 70 80 90 100
VLGALGLLAG AGVGSWLLVL YLCPAASQPI SGTLQDEEIT LSCSEASAEE
110 120 130 140 150
ALLPALPKTV SFRINSEDFL LEAQVRDQPR WLLVCHEGWS PALGLQICWS
160 170 180 190 200
LGHLRLTHHK GVNLTDIKLN SSQEFAQLSP RLGGFLEEAW QPRNNCTSGQ
210 220 230 240 250
VVSLRCSECG ARPLASRIVG GQSVAPGRWP WQASVALGFR HTCGGSVLAP
260 270 280 290 300
RWVVTAAHCM HSFRLARLSS WRVHAGLVSH SAVRPHQGAL VERIIPHPLY
310 320 330 340 350
SAQNHDYDVA LLRLQTALNF SDTVGAVCLP AKEQHFPKGS RCWVSGWGHT
360 370 380 390 400
HPSHTYSSDM LQDTVVPLFS TQLCNSSCVY SGALTPRMLC AGYLDGRADA
410 420 430 440 450
CQGDSGGPLV CPDGDTWRLV GVVSWGRGCA EPNHPGVYAK VAEFLDWIHD

TAQDSLL
Length:457
Mass (Da):49,560
Last modified:May 18, 2010 - v2
Checksum:i64406AB4985C4637
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti428G → A in BAB20375 (PubMed:11741986).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03800531D → V in patients with sporadic hearing loss. 1 Publication1
Natural variantiVAR_03800646R → Q1 PublicationCorresponds to variant dbSNP:rs11601425EnsemblClinVar.1
Natural variantiVAR_038007125V → M. Corresponds to variant dbSNP:rs7939917Ensembl.1
Natural variantiVAR_038008249A → V1 Publication1
Natural variantiVAR_038009317A → S in patients with sporadic hearing loss; no detectable proteolytic activity in a yeast-based protease assay. 1 Publication1
Natural variantiVAR_038010337P → S1 Publication1
Natural variantiVAR_038011369F → L Common polymorphism; reduced proteolytic activity in a yeast-based protease assay. 1 PublicationCorresponds to variant dbSNP:rs7110736EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB028140 mRNA Translation: BAB20375.1
AP002436 Genomic DNA No translation available.
AP003402 Genomic DNA No translation available.
CCDSiCCDS44735.1
RefSeqiNP_001275678.1, NM_001288749.1
NP_001275679.1, NM_001288750.1
NP_001275680.1, NM_001288751.1
NP_001275681.1, NM_001288752.1
NP_110397.2, NM_030770.3
UniGeneiHs.46720

Genome annotation databases

EnsembliENST00000299882; ENSP00000299882; ENSG00000166682
ENST00000643074; ENSP00000495454; ENSG00000166682
GeneIDi80975
KEGGihsa:80975
UCSCiuc001poc.6 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTMPS5_HUMAN
AccessioniPrimary (citable) accession number: Q9H3S3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 18, 2010
Last modified: July 18, 2018
This is version 137 of the entry and version 2 of the sequence. See 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 11
    Human chromosome 11: 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

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