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P56730 (NETR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 131. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neurotrypsin

EC=3.4.21.-
Alternative name(s):
Leydin
Motopsin
Serine protease 12
Gene names
Name:PRSS12
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length875 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations By similarity.

Subcellular location

Secreted.

Tissue specificity

Brain and Leydig cells of the testis.

Involvement in disease

Mental retardation, autosomal recessive 1 (MRT1) [MIM:249500]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the peptidase S1 family.

Contains 1 kringle domain.

Contains 1 peptidase S1 domain.

Contains 4 SRCR domains.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 875855Neurotrypsin
PRO_0000027663

Regions

Domain93 – 16573Kringle
Domain170 – 271102SRCR 1
Domain280 – 381102SRCR 2
Domain387 – 487101SRCR 3
Domain500 – 601102SRCR 4
Domain631 – 874244Peptidase S1
Region619 – 63012Zymogen activation region
Compositional bias23 – 9270Pro-rich

Sites

Active site6761Charge relay system By similarity
Active site7261Charge relay system By similarity
Active site8251Charge relay system By similarity
Site630 – 6312Reactive bond homolog Potential

Amino acid modifications

Glycosylation261N-linked (GlcNAc...) Potential
Glycosylation6831N-linked (GlcNAc...) Potential
Disulfide bond93 ↔ 165 By similarity
Disulfide bond109 ↔ 149 By similarity
Disulfide bond138 ↔ 163 By similarity
Disulfide bond195 ↔ 259 By similarity
Disulfide bond208 ↔ 269 By similarity
Disulfide bond239 ↔ 249 By similarity
Disulfide bond305 ↔ 369 By similarity
Disulfide bond318 ↔ 379 By similarity
Disulfide bond349 ↔ 359 By similarity
Disulfide bond412 ↔ 475 By similarity
Disulfide bond425 ↔ 485 By similarity
Disulfide bond455 ↔ 465 By similarity
Disulfide bond525 ↔ 589 By similarity
Disulfide bond538 ↔ 599 By similarity
Disulfide bond569 ↔ 579 By similarity
Disulfide bond619 ↔ 750 Potential
Disulfide bond661 ↔ 677 By similarity
Disulfide bond765 ↔ 831 By similarity
Disulfide bond794 ↔ 808 By similarity
Disulfide bond821 ↔ 850 By similarity

Natural variations

Natural variant6061A → S.
Corresponds to variant rs28661939 [ dbSNP | Ensembl ].
VAR_051835
Natural variant8331R → Q.
Corresponds to variant rs17594503 [ dbSNP | Ensembl ].
VAR_051836

Experimental info

Sequence conflict551R → T in CAA04816. Ref.1
Sequence conflict6631A → V in AAD25919. Ref.3
Sequence conflict7011E → V in AAD25919. Ref.3
Sequence conflict839 – 8413VVY → AAL in AAD25919. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P56730 [UniParc].

Last modified September 22, 2009. Version 2.
Checksum: EB357047C39371BC

FASTA87597,067
        10         20         30         40         50         60 
MTLARFVLAL MLGALPEVVG FDSVLNDSLH HSHRHSPPAG PHYPYYLPTQ QRPPRTRPPP 

        70         80         90        100        110        120 
PLPRFPRPPR ALPAQRPHAL QAGHTPRPHP WGCPAGEPWV SVTDFGAPCL RWAEVPPFLE 

       130        140        150        160        170        180 
RSPPASWAQL RGQRHNFCRS PDGAGRPWCF YGDARGKVDW GYCDCRHGSV RLRGGKNEFE 

       190        200        210        220        230        240 
GTVEVYASGV WGTVCSSHWD DSDASVICHQ LQLGGKGIAK QTPFSGLGLI PIYWSNVRCR 

       250        260        270        280        290        300 
GDEENILLCE KDIWQGGVCP QKMAAAVTCS FSHGPTFPII RLAGGSSVHE GRVELYHAGQ 

       310        320        330        340        350        360 
WGTVCDDQWD DADAEVICRQ LGLSGIAKAW HQAYFGEGSG PVMLDEVRCT GNELSIEQCP 

       370        380        390        400        410        420 
KSSWGEHNCG HKEDAGVSCT PLTDGVIRLA GGKGSHEGRL EVYYRGQWGT VCDDGWTELN 

       430        440        450        460        470        480 
TYVVCRQLGF KYGKQASANH FEESTGPIWL DDVSCSGKET RFLQCSRRQW GRHDCSHRED 

       490        500        510        520        530        540 
VSIACYPGGE GHRLSLGFPV RLMDGENKKE GRVEVFINGQ WGTICDDGWT DKDAAVICRQ 

       550        560        570        580        590        600 
LGYKGPARAR TMAYFGEGKG PIHVDNVKCT GNERSLADCI KQDIGRHNCR HSEDAGVICD 

       610        620        630        640        650        660 
YFGKKASGNS NKESLSSVCG LRLLHRRQKR IIGGKNSLRG GWPWQVSLRL KSSHGDGRLL 

       670        680        690        700        710        720 
CGATLLSSCW VLTAAHCFKR YGNSTRSYAV RVGDYHTLVP EEFEEEIGVQ QIVIHREYRP 

       730        740        750        760        770        780 
DRSDYDIALV RLQGPEEQCA RFSSHVLPAC LPLWRERPQK TASNCYITGW GDTGRAYSRT 

       790        800        810        820        830        840 
LQQAAIPLLP KRFCEERYKG RFTGRMLCAG NLHEHKRVDS CQGDSGGPLM CERPGESWVV 

       850        860        870 
YGVTSWGYGC GVKDSPGVYT KVSAFVPWIK SVTKL 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and sequencing of the cDNA encoding human neurotrypsin."
Proba K., Gschwend T.P., Sonderegger P.
Biochim. Biophys. Acta 1396:143-147(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Brain.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Cloning and structural analysis of leydin, a novel human serine protease expressed by the Leydig cells of the testis."
Poorafshar M., Hellman L.
Eur. J. Biochem. 261:244-250(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 615-875.
Tissue: Testis.
[4]"Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation."
Molinari F., Rio M., Meskenaite V., Encha-Razavi F., Auge J., Bacq D., Briault S., Vekemans M., Munnich A., Attie-Bitach T., Sonderegger P., Colleaux L.
Science 298:1779-1781(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: DISEASE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ001531 mRNA. Translation: CAA04816.1.
AC096762 Genomic DNA. No translation available.
AF077298 mRNA. Translation: AAD25919.1.
CCDSCCDS3709.1.
RefSeqNP_003610.2. NM_003619.3.
UniGeneHs.445857.

3D structure databases

ProteinModelPortalP56730.
SMRP56730. Positions 93-168, 170-270, 280-380, 387-485, 498-874.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000296498.

Protein family/group databases

MEROPSS01.237.

PTM databases

PhosphoSiteP56730.

Polymorphism databases

DMDM259016287.

Proteomic databases

PaxDbP56730.
PRIDEP56730.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296498; ENSP00000296498; ENSG00000164099.
GeneID8492.
KEGGhsa:8492.
UCSCuc003ica.2. human.

Organism-specific databases

CTD8492.
GeneCardsGC04M119201.
HGNCHGNC:9477. PRSS12.
HPAHPA035054.
MIM249500. phenotype.
606709. gene.
neXtProtNX_P56730.
Orphanet88616. Autosomal recessive nonsyndromic intellectual disability.
PharmGKBPA33830.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5640.
HOGENOMHOG000113767.
HOVERGENHBG006465.
InParanoidP56730.
KOK09624.
OMADDGWTDK.
OrthoDBEOG7RNK07.
PhylomeDBP56730.
TreeFamTF329295.

Gene expression databases

BgeeP56730.
CleanExHS_PRSS12.
GenevestigatorP56730.

Family and domain databases

Gene3D2.40.20.10. 1 hit.
3.10.250.10. 4 hits.
InterProIPR000001. Kringle.
IPR013806. Kringle-like.
IPR018056. Kringle_CS.
IPR001254. Peptidase_S1.
IPR018114. Peptidase_S1_AS.
IPR001314. Peptidase_S1A.
IPR001190. SRCR.
IPR017448. SRCR-like_dom.
IPR009003. Trypsin-like_Pept_dom.
[Graphical view]
PfamPF00051. Kringle. 1 hit.
PF00530. SRCR. 4 hits.
PF00089. Trypsin. 1 hit.
[Graphical view]
PRINTSPR00722. CHYMOTRYPSIN.
PR00258. SPERACTRCPTR.
SMARTSM00130. KR. 1 hit.
SM00202. SR. 4 hits.
SM00020. Tryp_SPc. 1 hit.
[Graphical view]
SUPFAMSSF50494. SSF50494. 1 hit.
SSF56487. SSF56487. 4 hits.
SSF57440. SSF57440. 1 hit.
PROSITEPS00021. KRINGLE_1. 1 hit.
PS50070. KRINGLE_2. 1 hit.
PS00420. SRCR_1. 3 hits.
PS50287. SRCR_2. 4 hits.
PS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi8492.
NextBio31771.
PROP56730.
SOURCESearch...

Entry information

Entry nameNETR_HUMAN
AccessionPrimary (citable) accession number: P56730
Secondary accession number(s): Q9UP16
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: September 22, 2009
Last modified: July 9, 2014
This is version 131 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM