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P56730

- NETR_HUMAN

UniProt

P56730 - NETR_HUMAN

Protein

Neurotrypsin

Gene

PRSS12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 2 (22 Sep 2009)
      Previous versions | rss
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    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

    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-SubCell
    5. plasma membrane Source: UniProtKB
    6. synaptic cleft Source: Ensembl
    7. terminal bouton Source: Ensembl

    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 nonsyndromic 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 93-168, 170-270, 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.
    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

    MTLARFVLAL MLGALPEVVG FDSVLNDSLH HSHRHSPPAG PHYPYYLPTQ    50
    QRPPRTRPPP PLPRFPRPPR ALPAQRPHAL QAGHTPRPHP WGCPAGEPWV 100
    SVTDFGAPCL RWAEVPPFLE RSPPASWAQL RGQRHNFCRS PDGAGRPWCF 150
    YGDARGKVDW GYCDCRHGSV RLRGGKNEFE GTVEVYASGV WGTVCSSHWD 200
    DSDASVICHQ LQLGGKGIAK QTPFSGLGLI PIYWSNVRCR GDEENILLCE 250
    KDIWQGGVCP QKMAAAVTCS FSHGPTFPII RLAGGSSVHE GRVELYHAGQ 300
    WGTVCDDQWD DADAEVICRQ LGLSGIAKAW HQAYFGEGSG PVMLDEVRCT 350
    GNELSIEQCP KSSWGEHNCG HKEDAGVSCT PLTDGVIRLA GGKGSHEGRL 400
    EVYYRGQWGT VCDDGWTELN TYVVCRQLGF KYGKQASANH FEESTGPIWL 450
    DDVSCSGKET RFLQCSRRQW GRHDCSHRED VSIACYPGGE GHRLSLGFPV 500
    RLMDGENKKE GRVEVFINGQ WGTICDDGWT DKDAAVICRQ LGYKGPARAR 550
    TMAYFGEGKG PIHVDNVKCT GNERSLADCI KQDIGRHNCR HSEDAGVICD 600
    YFGKKASGNS NKESLSSVCG LRLLHRRQKR IIGGKNSLRG GWPWQVSLRL 650
    KSSHGDGRLL CGATLLSSCW VLTAAHCFKR YGNSTRSYAV RVGDYHTLVP 700
    EEFEEEIGVQ QIVIHREYRP DRSDYDIALV RLQGPEEQCA RFSSHVLPAC 750
    LPLWRERPQK TASNCYITGW GDTGRAYSRT LQQAAIPLLP KRFCEERYKG 800
    RFTGRMLCAG NLHEHKRVDS CQGDSGGPLM CERPGESWVV YGVTSWGYGC 850
    GVKDSPGVYT KVSAFVPWIK SVTKL 875
    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 93-168, 170-270, 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 nonsyndromic intellectual disability.
    PharmGKBi PA33830.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5640.
    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

    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 1, 2014
    This is version 132 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