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P56730

- NETR_HUMAN

UniProt

P56730 - NETR_HUMAN

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Protein

Neurotrypsin

Gene

PRSS12

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

Functioni

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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei630 – 6312Reactive bond homologSequence Analysis
Active sitei676 – 6761Charge relay systemBy similarity
Active sitei726 – 7261Charge relay systemBy similarity
Active sitei825 – 8251Charge relay systemBy similarity

GO - Molecular functioni

  1. scavenger receptor activity Source: InterPro
  2. serine-type endopeptidase activity Source: Ensembl
  3. serine-type peptidase activity Source: ProtInc

GO - Biological processi

  1. exocytosis Source: UniProtKB
  2. zymogen activation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Serine protease

Protein family/group databases

MEROPSiS01.237.

Names & Taxonomyi

Protein namesi
Recommended name:
Neurotrypsin (EC:3.4.21.-)
Alternative name(s):
Leydin
Motopsin
Serine protease 12
Gene namesi
Name:PRSS12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:9477. PRSS12.

Subcellular locationi

GO - Cellular componenti

  1. axon Source: UniProtKB
  2. cytoplasmic vesicle Source: Ensembl
  3. dendrite Source: Ensembl
  4. extracellular region Source: UniProtKB-KW
  5. plasma membrane Source: UniProtKB
  6. synaptic cleft Source: Ensembl
  7. terminal bouton Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Mental retardation

Organism-specific databases

MIMi249500. phenotype.
Orphaneti88616. Autosomal recessive non-syndromic intellectual disability.
PharmGKBiPA33830.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 875855NeurotrypsinPRO_0000027663Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi26 – 261N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi93 ↔ 165By similarity
Disulfide bondi109 ↔ 149By similarity
Disulfide bondi138 ↔ 163By similarity
Disulfide bondi195 ↔ 259By similarity
Disulfide bondi208 ↔ 269By similarity
Disulfide bondi239 ↔ 249By similarity
Disulfide bondi305 ↔ 369By similarity
Disulfide bondi318 ↔ 379By similarity
Disulfide bondi349 ↔ 359By similarity
Disulfide bondi412 ↔ 475By similarity
Disulfide bondi425 ↔ 485By similarity
Disulfide bondi455 ↔ 465By similarity
Disulfide bondi525 ↔ 589By similarity
Disulfide bondi538 ↔ 599By similarity
Disulfide bondi569 ↔ 579By similarity
Disulfide bondi619 ↔ 750Sequence Analysis
Disulfide bondi661 ↔ 677By similarity
Glycosylationi683 – 6831N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi765 ↔ 831By similarity
Disulfide bondi794 ↔ 808By similarity
Disulfide bondi821 ↔ 850By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP56730.
PRIDEiP56730.

PTM databases

PhosphoSiteiP56730.

Expressioni

Tissue specificityi

Brain and Leydig cells of the testis.

Gene expression databases

BgeeiP56730.
CleanExiHS_PRSS12.
GenevestigatoriP56730.

Organism-specific databases

HPAiHPA035054.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000296498.

Structurei

3D structure databases

ProteinModelPortaliP56730.
SMRiP56730. Positions 93-270, 280-380, 387-485, 498-874.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini93 – 16573KringlePROSITE-ProRule annotationAdd
BLAST
Domaini170 – 271102SRCR 1PROSITE-ProRule annotationAdd
BLAST
Domaini280 – 381102SRCR 2PROSITE-ProRule annotationAdd
BLAST
Domaini387 – 487101SRCR 3PROSITE-ProRule annotationAdd
BLAST
Domaini500 – 601102SRCR 4PROSITE-ProRule annotationAdd
BLAST
Domaini631 – 874244Peptidase S1PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni619 – 63012Zymogen activation regionAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi23 – 9270Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the peptidase S1 family.PROSITE-ProRule annotation
Contains 1 kringle domain.PROSITE-ProRule annotation
Contains 1 peptidase S1 domain.PROSITE-ProRule annotation
Contains 4 SRCR domains.PROSITE-ProRule annotation

Keywords - Domaini

Kringle, Repeat, Signal

Phylogenomic databases

eggNOGiCOG5640.
GeneTreeiENSGT00760000118953.
HOGENOMiHOG000113767.
HOVERGENiHBG006465.
InParanoidiP56730.
KOiK09624.
OMAiDDGWTDK.
OrthoDBiEOG7RNK07.
PhylomeDBiP56730.
TreeFamiTF329295.

Family and domain databases

Gene3Di2.40.20.10. 1 hit.
3.10.250.10. 4 hits.
InterProiIPR000001. 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]
PfamiPF00051. Kringle. 1 hit.
PF00530. SRCR. 4 hits.
PF00089. Trypsin. 1 hit.
[Graphical view]
PRINTSiPR00722. CHYMOTRYPSIN.
PR00258. SPERACTRCPTR.
SMARTiSM00130. KR. 1 hit.
SM00202. SR. 4 hits.
SM00020. Tryp_SPc. 1 hit.
[Graphical view]
SUPFAMiSSF50494. SSF50494. 1 hit.
SSF56487. SSF56487. 4 hits.
SSF57440. SSF57440. 1 hit.
PROSITEiPS00021. 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]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P56730-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MTLARFVLAL MLGALPEVVG FDSVLNDSLH HSHRHSPPAG PHYPYYLPTQ
60 70 80 90 100
QRPPRTRPPP PLPRFPRPPR ALPAQRPHAL QAGHTPRPHP WGCPAGEPWV
110 120 130 140 150
SVTDFGAPCL RWAEVPPFLE RSPPASWAQL RGQRHNFCRS PDGAGRPWCF
160 170 180 190 200
YGDARGKVDW GYCDCRHGSV RLRGGKNEFE GTVEVYASGV WGTVCSSHWD
210 220 230 240 250
DSDASVICHQ LQLGGKGIAK QTPFSGLGLI PIYWSNVRCR GDEENILLCE
260 270 280 290 300
KDIWQGGVCP QKMAAAVTCS FSHGPTFPII RLAGGSSVHE GRVELYHAGQ
310 320 330 340 350
WGTVCDDQWD DADAEVICRQ LGLSGIAKAW HQAYFGEGSG PVMLDEVRCT
360 370 380 390 400
GNELSIEQCP KSSWGEHNCG HKEDAGVSCT PLTDGVIRLA GGKGSHEGRL
410 420 430 440 450
EVYYRGQWGT VCDDGWTELN TYVVCRQLGF KYGKQASANH FEESTGPIWL
460 470 480 490 500
DDVSCSGKET RFLQCSRRQW GRHDCSHRED VSIACYPGGE GHRLSLGFPV
510 520 530 540 550
RLMDGENKKE GRVEVFINGQ WGTICDDGWT DKDAAVICRQ LGYKGPARAR
560 570 580 590 600
TMAYFGEGKG PIHVDNVKCT GNERSLADCI KQDIGRHNCR HSEDAGVICD
610 620 630 640 650
YFGKKASGNS NKESLSSVCG LRLLHRRQKR IIGGKNSLRG GWPWQVSLRL
660 670 680 690 700
KSSHGDGRLL CGATLLSSCW VLTAAHCFKR YGNSTRSYAV RVGDYHTLVP
710 720 730 740 750
EEFEEEIGVQ QIVIHREYRP DRSDYDIALV RLQGPEEQCA RFSSHVLPAC
760 770 780 790 800
LPLWRERPQK TASNCYITGW GDTGRAYSRT LQQAAIPLLP KRFCEERYKG
810 820 830 840 850
RFTGRMLCAG NLHEHKRVDS CQGDSGGPLM CERPGESWVV YGVTSWGYGC
860 870
GVKDSPGVYT KVSAFVPWIK SVTKL
Length:875
Mass (Da):97,067
Last modified:September 22, 2009 - v2
Checksum:iEB357047C39371BC
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti55 – 551R → T in CAA04816. (PubMed:9540828)Curated
Sequence conflicti663 – 6631A → V in AAD25919. (PubMed:10103056)Curated
Sequence conflicti701 – 7011E → V in AAD25919. (PubMed:10103056)Curated
Sequence conflicti839 – 8413VVY → AAL in AAD25919. (PubMed:10103056)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti606 – 6061A → S.
Corresponds to variant rs28661939 [ dbSNP | Ensembl ].
VAR_051835
Natural varianti833 – 8331R → Q.
Corresponds to variant rs17594503 [ dbSNP | Ensembl ].
VAR_051836

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ001531 mRNA. Translation: CAA04816.1.
AC096762 Genomic DNA. No translation available.
AF077298 mRNA. Translation: AAD25919.1.
CCDSiCCDS3709.1.
RefSeqiNP_003610.2. NM_003619.3.
UniGeneiHs.445857.

Genome annotation databases

EnsembliENST00000296498; ENSP00000296498; ENSG00000164099.
GeneIDi8492.
KEGGihsa:8492.
UCSCiuc003ica.2. human.

Polymorphism databases

DMDMi259016287.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ001531 mRNA. Translation: CAA04816.1 .
AC096762 Genomic DNA. No translation available.
AF077298 mRNA. Translation: AAD25919.1 .
CCDSi CCDS3709.1.
RefSeqi NP_003610.2. NM_003619.3.
UniGenei Hs.445857.

3D structure databases

ProteinModelPortali P56730.
SMRi P56730. Positions 93-270, 280-380, 387-485, 498-874.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000296498.

Protein family/group databases

MEROPSi S01.237.

PTM databases

PhosphoSitei P56730.

Polymorphism databases

DMDMi 259016287.

Proteomic databases

PaxDbi P56730.
PRIDEi P56730.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000296498 ; ENSP00000296498 ; ENSG00000164099 .
GeneIDi 8492.
KEGGi hsa:8492.
UCSCi uc003ica.2. human.

Organism-specific databases

CTDi 8492.
GeneCardsi GC04M119201.
HGNCi HGNC:9477. PRSS12.
HPAi HPA035054.
MIMi 249500. phenotype.
606709. gene.
neXtProti NX_P56730.
Orphaneti 88616. Autosomal recessive non-syndromic intellectual disability.
PharmGKBi PA33830.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5640.
GeneTreei ENSGT00760000118953.
HOGENOMi HOG000113767.
HOVERGENi HBG006465.
InParanoidi P56730.
KOi K09624.
OMAi DDGWTDK.
OrthoDBi EOG7RNK07.
PhylomeDBi P56730.
TreeFami TF329295.

Miscellaneous databases

GenomeRNAii 8492.
NextBioi 31771.
PROi P56730.
SOURCEi Search...

Gene expression databases

Bgeei P56730.
CleanExi HS_PRSS12.
Genevestigatori P56730.

Family and domain databases

Gene3Di 2.40.20.10. 1 hit.
3.10.250.10. 4 hits.
InterProi IPR000001. 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 ]
Pfami PF00051. Kringle. 1 hit.
PF00530. SRCR. 4 hits.
PF00089. Trypsin. 1 hit.
[Graphical view ]
PRINTSi PR00722. CHYMOTRYPSIN.
PR00258. SPERACTRCPTR.
SMARTi SM00130. KR. 1 hit.
SM00202. SR. 4 hits.
SM00020. Tryp_SPc. 1 hit.
[Graphical view ]
SUPFAMi SSF50494. SSF50494. 1 hit.
SSF56487. SSF56487. 4 hits.
SSF57440. SSF57440. 1 hit.
PROSITEi PS00021. 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 ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiNETR_HUMAN
AccessioniPrimary (citable) accession number: P56730
Secondary accession number(s): Q9UP16
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: September 22, 2009
Last modified: October 29, 2014
This is version 133 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 4
    Human chromosome 4: 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

External Data

Dasty 3