PRSS12
Neurotrypsin
Also known as: BSSP-3, MRT1, NETR_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P56730
- Gene
- PRSS12
- Ensembl
- ENSG00000164099
- Chromosome
- 4
- Canonical length
- 875 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted secreted proteins
- Secretome location
- Secreted - unknown location
OverviewNCBI Gene
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 referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1). [provided by RefSeq, Jul 2017]
Canonical amino-acid sequenceUniProt
875 residues, UniProt reviewed canonical sequence.
>P56730|PRSS12
1 MTLARFVLAL MLGALPEVVG FDSVLNDSLH HSHRHSPPAG PHYPYYLPTQ QRPPRTRPPP
61 PLPRFPRPPR ALPAQRPHAL QAGHTPRPHP WGCPAGEPWV SVTDFGAPCL RWAEVPPFLE
121 RSPPASWAQL RGQRHNFCRS PDGAGRPWCF YGDARGKVDW GYCDCRHGSV RLRGGKNEFE
181 GTVEVYASGV WGTVCSSHWD DSDASVICHQ LQLGGKGIAK QTPFSGLGLI PIYWSNVRCR
241 GDEENILLCE KDIWQGGVCP QKMAAAVTCS FSHGPTFPII RLAGGSSVHE GRVELYHAGQ
301 WGTVCDDQWD DADAEVICRQ LGLSGIAKAW HQAYFGEGSG PVMLDEVRCT GNELSIEQCP
361 KSSWGEHNCG HKEDAGVSCT PLTDGVIRLA GGKGSHEGRL EVYYRGQWGT VCDDGWTELN
421 TYVVCRQLGF KYGKQASANH FEESTGPIWL DDVSCSGKET RFLQCSRRQW GRHDCSHRED
481 VSIACYPGGE GHRLSLGFPV RLMDGENKKE GRVEVFINGQ WGTICDDGWT DKDAAVICRQ
541 LGYKGPARAR TMAYFGEGKG PIHVDNVKCT GNERSLADCI KQDIGRHNCR HSEDAGVICD
601 YFGKKASGNS NKESLSSVCG LRLLHRRQKR IIGGKNSLRG GWPWQVSLRL KSSHGDGRLL
661 CGATLLSSCW VLTAAHCFKR YGNSTRSYAV RVGDYHTLVP EEFEEEIGVQ QIVIHREYRP
721 DRSDYDIALV RLQGPEEQCA RFSSHVLPAC LPLWRERPQK TASNCYITGW GDTGRAYSRT
781 LQQAAIPLLP KRFCEERYKG RFTGRMLCAG NLHEHKRVDS CQGDSGGPLM CERPGESWVV
841 YGVTSWGYGC GVKDSPGVYT KVSAFVPWIK SVTKLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PRSS12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 24 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 24 nTPM
- cervix: 14 nTPM
- vagina: 11 nTPM
- fallopian tube: 9.9 nTPM
- placenta: 9.9 nTPM
- testis: 9.4 nTPM
Single-cell type
- respiratory ciliated cells: 304 nCPM
- foveolar cells: 174 nCPM
- choroid plexus epithelial cells: 141 nCPM
- migrating cytotrophoblasts: 102 nCPM
- cytotrophoblasts: 80 nCPM
- colonocytes: 77 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 32 nTPM
- hippocampal formation: 6.5 nTPM
- midbrain: 4.7 nTPM
- amygdala: 3.6 nTPM
- cerebral cortex: 3.5 nTPM
- thalamus: 3.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PRSS12.
Disease | AllUniProt
Conditions PRSS12 is implicated in, by any mechanism.
- Intellectual developmental disorder, autosomal recessive 1 (MRT1) MIM:249500
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 318 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual disability, autosomal recessive 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.24
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.39
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Kringle
- SRCR domain
- Serine proteases, trypsin domain
- Peptidase S1A, chymotrypsin family
- Peptidase S1, PA clan
- Kringle-like fold
- Kringle, conserved site
- Serine proteases, trypsin family, histidine active site
- Serine proteases, trypsin family, serine active site
- SRCR-like domain superfamily
- Kringle superfamily
- Kringle domain
- Trypsin
- Scavenger receptor cysteine-rich domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PRSS12 as an antibody target. Whether an autoantibody or antibody against PRSS12 could matter depends on whether native PRSS12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PRSS12 is annotated as secreted, so native PRSS12 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label PRSS12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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