• Gene id: 8492

Gene Summary

• Gene Symbol: PRSS12   Gene   UCSC   Ensembl
• Aliases: BSSP-3, BSSP3, MRT1
• Gene name: serine protease 12
• Alternate names: neurotrypsin, brain-specific serine protease 3, leydin, protease, serine 12, protease, serine, 12 (neurotrypsin, motopsin),
• Gene location: 4q26 (118353041: 118280037)     Exons: 15     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes r
• OMIM: 606709

Protein Summary

• Protein general information: P56730  
  • Name: Neurotrypsin (EC 3.4.21. ) (Leydin) (Motopsin) (Serine protease 12)
  • Length: 875  
  • Mass: 97067
  • Tissue specificity: Brain and Leydig cells of the testis.
• Sequence:

  MTLARFVLALMLGALPEVVGFDSVLNDSLHHSHRHSPPAGPHYPYYLPTQQRPPRTRPPPPLPRFPRPPRALPAQ
  RPHALQAGHTPRPHPWGCPAGEPWVSVTDFGAPCLRWAEVPPFLERSPPASWAQLRGQRHNFCRSPDGAGRPWCF
  YGDARGKVDWGYCDCRHGSVRLRGGKNEFEGTVEVYASGVWGTVCSSHWDDSDASVICHQLQLGGKGIAKQTPFS
  GLGLIPIYWSNVRCRGDEENILLCEKDIWQGGVCPQKMAAAVTCSFSHGPTFPIIRLAGGSSVHEGRVELYHAGQ
  WGTVCDDQWDDADAEVICRQLGLSGIAKAWHQAYFGEGSGPVMLDEVRCTGNELSIEQCPKSSWGEHNCGHKEDA
  GVSCTPLTDGVIRLAGGKGSHEGRLEVYYRGQWGTVCDDGWTELNTYVVCRQLGFKYGKQASANHFEESTGPIWL
  DDVSCSGKETRFLQCSRRQWGRHDCSHREDVSIACYPGGEGHRLSLGFPVRLMDGENKKEGRVEVFINGQWGTIC
  DDGWTDKDAAVICRQLGYKGPARARTMAYFGEGKGPIHVDNVKCTGNERSLADCIKQDIGRHNCRHSEDAGVICD
  YFGKKASGNSNKESLSSVCGLRLLHRRQKRIIGGKNSLRGGWPWQVSLRLKSSHGDGRLLCGATLLSSCWVLTAA
  HCFKRYGNSTRSYAVRVGDYHTLVPEEFEEEIGVQQIVIHREYRPDRSDYDIALVRLQGPEEQCARFSSHVLPAC
  LPLWRERPQKTASNCYITGWGDTGRAYSRTLQQAAIPLLPKRFCEERYKGRFTGRMLCAGNLHEHKRVDSCQGDS
  GGPLMCERPGESWVVYGVTSWGYGCGVKDSPGVYTKVSAFVPWIKSVTKL

• Structural information:
  • Protein Domains: (93..16-)
    (/note="Kringle-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00121-)
    (170..27-)
    (/note="SRCR-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00196-)
    (280..38-)
    (/note="SRCR-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00196-)
    (-)
  • Interpro: IPR000001  IPR013806  IPR018056  IPR038178  IPR009003   IPR001314  IPR001190  IPR017448  IPR036772  IPR001254  IPR018114  IPR033116  
  • Prosite: PS00021 PS50070 PS00420 PS50287 PS50240 PS00134 PS00135
  • CDD: cd00190
  • STRING: ENSP00000296498
• Other Databases: GeneCards:  PRSS12  Malacards:  PRSS12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043195	terminal bouton	IBA	cellular component
GO:0043083	synaptic cleft	IBA	cellular component
GO:0030425	dendrite	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0031638	zymogen activation	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0030424	axon	ISS	cellular component
GO:0006887	exocytosis	ISS	biological process
GO:0005886	plasma membrane	ISS	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:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0008236	serine-type peptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0043083	synaptic cleft	IEA	cellular component
GO:0043195	terminal bouton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0031638	zymogen activation	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Intellectual disability	PMID:12459588
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881