• Gene id: 80975

Gene Summary

• Gene Symbol: TMPRSS5   Gene   UCSC   Ensembl
• Aliases: SPINESIN
• Gene name: transmembrane serine protease 5
• Alternate names: transmembrane protease serine 5, transmembrane protease, serine 5,
• Gene location: 11q23.2 (113709810: 113687545)     Exons: 12     NC_000011.10
• Gene summary(Entrez): This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014
• OMIM: 606361

Protein Summary

• Protein general information: Q9H3S3  
  • Name: Transmembrane protease serine 5 (EC 3.4.21. ) (Spinesin)
  • Length: 457  
  • Mass: 49560
  • Tissue specificity: Brain-specific. Predominantly expressed in neurons, in their axons, and at the synapses of motoneurons in the spinal cord.
• Sequence:

  MSLMLDDQPPMEAQYAEEGPGPGIFRAEPGDQQHPISQAVCWRSMRRGCAVLGALGLLAGAGVGSWLLVLYLCPA
  ASQPISGTLQDEEITLSCSEASAEEALLPALPKTVSFRINSEDFLLEAQVRDQPRWLLVCHEGWSPALGLQICWS
  LGHLRLTHHKGVNLTDIKLNSSQEFAQLSPRLGGFLEEAWQPRNNCTSGQVVSLRCSECGARPLASRIVGGQSVA
  PGRWPWQASVALGFRHTCGGSVLAPRWVVTAAHCMHSFRLARLSSWRVHAGLVSHSAVRPHQGALVERIIPHPLY
  SAQNHDYDVALLRLQTALNFSDTVGAVCLPAKEQHFPKGSRCWVSGWGHTHPSHTYSSDMLQDTVVPLFSTQLCN
  SSCVYSGALTPRMLCAGYLDGRADACQGDSGGPLVCPDGDTWRLVGVVSWGRGCAEPNHPGVYAKVAEFLDWIHD
  TAQDSLL

• Structural information:
  • Protein Domains: (112..20-)
    (/note="SRCR-)
    (218..45-)
    (/note="Peptidase-S1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00274"-)
  • Interpro: IPR009003  IPR001314  IPR001190  IPR017448  IPR036772   IPR001254  IPR018114  IPR033116  
  • Prosite: PS00420 PS50240 PS00134 PS00135
  • CDD: cd00190
  • STRING: ENSP00000299882
• Other Databases: GeneCards:  TMPRSS5  Malacards:  TMPRSS5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005044	scavenger receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0008233	peptidase activity	IMP	molecular function
GO:0006508	proteolysis	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq