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Protein

Transmembrane protease serine 5

Gene

TMPRSS5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in hearing.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei258 – 2581Charge relay systemBy similarity
Active sitei308 – 3081Charge relay systemBy similarity
Active sitei405 – 4051Charge relay systemBy similarity

GO - Molecular functioni

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

GO - Biological processi

  • proteolysis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, 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

HGNCiHGNC:14908. TMPRSS5.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4949CytoplasmicSequence analysisAdd
BLAST
Transmembranei50 – 7021Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST
Topological domaini71 – 457387ExtracellularSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • neuronal cell body Source: Ensembl
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Defects in TMPRSS5 may be a cause of deafness.

Organism-specific databases

PharmGKBiPA37920.

Polymorphism and mutation databases

BioMutaiTMPRSS5.
DMDMi296452845.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 457457Transmembrane protease serine 5PRO_0000088694Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi135 ↔ 196PROSITE-ProRule annotation
Disulfide bondi148 ↔ 206PROSITE-ProRule annotation
Glycosylationi163 – 1631N-linked (GlcNAc...)Sequence analysis
Glycosylationi170 – 1701N-linked (GlcNAc...)Sequence analysis
Glycosylationi195 – 1951N-linked (GlcNAc...)Sequence analysis
Disulfide bondi209 ↔ 328PROSITE-ProRule annotation
Disulfide bondi243 ↔ 259PROSITE-ProRule annotation
Glycosylationi319 – 3191N-linked (GlcNAc...)Sequence analysis
Disulfide bondi342 ↔ 411PROSITE-ProRule annotation
Disulfide bondi374 ↔ 390PROSITE-ProRule annotation
Glycosylationi375 – 3751N-linked (GlcNAc...)Sequence analysis
Disulfide bondi401 ↔ 429PROSITE-ProRule annotation

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei217 – 2182CleavageSequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9H3S3.
PRIDEiQ9H3S3.

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

BgeeiQ9H3S3.
CleanExiHS_TMPRSS5.
ExpressionAtlasiQ9H3S3. baseline and differential.
GenevisibleiQ9H3S3. HS.

Organism-specific databases

HPAiHPA010992.

Interactioni

Protein-protein interaction databases

BioGridi123345. 7 interactions.
IntActiQ9H3S3. 1 interaction.
STRINGi9606.ENSP00000299882.

Structurei

3D structure databases

ProteinModelPortaliQ9H3S3.
SMRiQ9H3S3. Positions 113-451.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini112 – 20796SRCRAdd
BLAST
Domaini218 – 453236Peptidase S1PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the peptidase S1 family.PROSITE-ProRule annotation
Contains 1 peptidase S1 domain.PROSITE-ProRule annotation
Contains 1 SRCR domain.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di3.10.250.10. 1 hit.
InterProiIPR009003. Peptidase_S1_PA.
IPR001314. Peptidase_S1A.
IPR001190. SRCR.
IPR017448. SRCR-like_dom.
IPR001254. Trypsin_dom.
IPR018114. TRYPSIN_HIS.
IPR033116. TRYPSIN_SER.
[Graphical view]
PfamiPF15494. SRCR_2. 1 hit.
PF00089. Trypsin. 1 hit.
[Graphical view]
PRINTSiPR00722. CHYMOTRYPSIN.
SMARTiSM00020. Tryp_SPc. 1 hit.
[Graphical view]
SUPFAMiSSF50494. SSF50494. 1 hit.
SSF56487. SSF56487. 1 hit.
PROSITEiPS00420. SRCR_1. 1 hit.
PS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti428 – 4281G → A in BAB20375 (PubMed:11741986).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311D → V in patients with sporadic hearing loss. 1 Publication
VAR_038005
Natural varianti46 – 461R → Q.1 Publication
Corresponds to variant rs11601425 [ dbSNP | Ensembl ].
VAR_038006
Natural varianti125 – 1251V → M.
Corresponds to variant rs7939917 [ dbSNP | Ensembl ].
VAR_038007
Natural varianti249 – 2491A → V.1 Publication
VAR_038008
Natural varianti317 – 3171A → S in patients with sporadic hearing loss; no detectable proteolytic activity in a yeast-based protease assay. 1 Publication
VAR_038009
Natural varianti337 – 3371P → S.1 Publication
VAR_038010
Natural varianti369 – 3691F → L Common polymorphism; reduced proteolytic activity in a yeast-based protease assay. 1 Publication
Corresponds to variant rs7110736 [ dbSNP | Ensembl ].
VAR_038011

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.
GeneIDi80975.
KEGGihsa:80975.
UCSCiuc001poc.6. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9H3S3.
SMRiQ9H3S3. Positions 113-451.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123345. 7 interactions.
IntActiQ9H3S3. 1 interaction.
STRINGi9606.ENSP00000299882.

Protein family/group databases

MEROPSiS01.313.

Polymorphism and mutation databases

BioMutaiTMPRSS5.
DMDMi296452845.

Proteomic databases

PaxDbiQ9H3S3.
PRIDEiQ9H3S3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi80975.
GeneCardsiTMPRSS5.
H-InvDBHIX0035816.
HGNCiHGNC:14908. TMPRSS5.
HPAiHPA010992.
MIMi606751. gene.
neXtProtiNX_Q9H3S3.
PharmGKBiPA37920.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii80975.
NextBioi71340.
PROiQ9H3S3.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H3S3.
CleanExiHS_TMPRSS5.
ExpressionAtlasiQ9H3S3. baseline and differential.
GenevisibleiQ9H3S3. HS.

Family and domain databases

Gene3Di3.10.250.10. 1 hit.
InterProiIPR009003. Peptidase_S1_PA.
IPR001314. Peptidase_S1A.
IPR001190. SRCR.
IPR017448. SRCR-like_dom.
IPR001254. Trypsin_dom.
IPR018114. TRYPSIN_HIS.
IPR033116. TRYPSIN_SER.
[Graphical view]
PfamiPF15494. SRCR_2. 1 hit.
PF00089. Trypsin. 1 hit.
[Graphical view]
PRINTSiPR00722. CHYMOTRYPSIN.
SMARTiSM00020. Tryp_SPc. 1 hit.
[Graphical view]
SUPFAMiSSF50494. SSF50494. 1 hit.
SSF56487. SSF56487. 1 hit.
PROSITEiPS00420. SRCR_1. 1 hit.
PS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Spinesin/TMPRSS5, a novel transmembrane serine protease, cloned from human spinal cord."
    Yamaguchi N., Okui A., Yamada T., Nakazato H., Mitsui S.
    J. Biol. Chem. 277:6806-6812(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss."
    Guipponi M., Toh M.-Y., Tan J., Park D., Hanson K., Ballana E., Kwong D., Cannon P.Z.F., Wu Q., Gout A., Delorenzi M., Speed T.P., Smith R.J.H., Dahl H.-H.M., Petersen M., Teasdale R.D., Estivill X., Park W.J., Scott H.S.
    Hum. Mutat. 29:130-141(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS VAL-31; GLN-46; VAL-249; SER-317; SER-337 AND LEU-369, CHARACTERIZATION OF VARIANTS SER-317 AND LEU-369.

Entry informationi

Entry nameiTMPS5_HUMAN
AccessioniPrimary (citable) accession number: Q9H3S3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 18, 2010
Last modified: March 16, 2016
This is version 122 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 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.