LOCUS       NM_003619               4809 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens serine protease 12 (PRSS12), mRNA.
ACCESSION   NM_003619
VERSION     NM_003619.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4809)
  AUTHORS   Pratt,J., Whitton,L., Ryan,A., Juliusdottir,T., Dolan,J.,
            Conroy,J., Narici,M., De Vito,G. and Boreham,C.
  TITLE     Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are
            associated with muscle mass, strength and plasma C-terminal agrin
            fragment concentration
  JOURNAL   Geroscience 45 (3), 1289-1302 (2023)
   PUBMED   36609795
  REMARK    GeneRIF: Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are
            associated with muscle mass, strength and plasma C-terminal agrin
            fragment concentration.
REFERENCE   2  (bases 1 to 4809)
  AUTHORS   Kalsi,G., Kuo,P.H., Aliev,F., Alexander,J., McMichael,O.,
            Patterson,D.G., Walsh,D., Zhao,Z., Schuckit,M., Nurnberger,J. Jr.,
            Edenberg,H., Kramer,J., Hesselbrock,V., Tischfield,J.A.,
            Vladimirov,V., Prescott,C.A., Dick,D.M., Kendler,K.S. and
            Riley,B.P.
  TITLE     A systematic gene-based screen of chr4q22-q32 identifies
            association of a novel susceptibility gene, DKK2, with the
            quantitative trait of alcohol dependence symptom counts
  JOURNAL   Hum Mol Genet 19 (12), 2497-2506 (2010)
   PUBMED   20332099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock,
            Victor [added]; Tischfield, Jay A [added]]
REFERENCE   3  (bases 1 to 4809)
  AUTHORS   Molinari,F., Rio,M., Meskenaite,V., Encha-Razavi,F., Auge,J.,
            Bacq,D., Briault,S., Vekemans,M., Munnich,A., Attie-Bitach,T.,
            Sonderegger,P. and Colleaux,L.
  TITLE     Truncating neurotrypsin mutation in autosomal recessive
            nonsyndromic mental retardation
  JOURNAL   Science 298 (5599), 1779-1781 (2002)
   PUBMED   12459588
  REMARK    GeneRIF: 4-base pair deletion in the neurotrypsin gene was
            associated with autosomal recessive nonsyndromic mental
            retardation; findings suggest that neurotrypsin-mediated
            proteolysis is required for normal synaptic function
REFERENCE   4  (bases 1 to 4809)
  AUTHORS   Poorafshar,M. and Hellman,L.
  TITLE     Cloning and structural analysis of leydin, a novel human serine
            protease expressed by the Leydig cells of the testis
  JOURNAL   Eur J Biochem 261 (1), 244-250 (1999)
   PUBMED   10103056
REFERENCE   5  (bases 1 to 4809)
  AUTHORS   Kozlov,S.V., Riegel,M., Kinter,J., Hintsch,G., Cinelli,P.,
            Schinzel,A. and Sonderegger,P.
  TITLE     Assignment of the gene encoding the neuronal multidomain serine
            protease neurotrypsin (PRSS12) to human chromosome band 4q25-->q26
            by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 84 (1-2), 107-108 (1999)
   PUBMED   10343120
REFERENCE   6  (bases 1 to 4809)
  AUTHORS   Proba,K., Gschwend,T.P. and Sonderegger,P.
  TITLE     Cloning and sequencing of the cDNA encoding human neurotrypsin
  JOURNAL   Biochim Biophys Acta 1396 (2), 143-147 (1998)
   PUBMED   9540828
REFERENCE   7  (bases 1 to 4809)
  AUTHORS   Gschwend,T.P., Krueger,S.R., Kozlov,S.V., Wolfer,D.P. and
            Sonderegger,P.
  TITLE     Neurotrypsin, a novel multidomain serine protease expressed in the
            nervous system
  JOURNAL   Mol Cell Neurosci 9 (3), 207-219 (1997)
   PUBMED   9245503
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096762.3, BC007761.2,
            BG386264.1 and AJ001531.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003619.3.
            
            Summary: 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].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ001531.1, ERR3218373.76840.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296498.3/ ENSP00000296498.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-236               AC096762.3         129893-130128       c
            237-383             BC007761.2         1-147
            384-852             BG386264.1         2-470
            853-1798            BC007761.2         617-1562
            1799-3585           AJ001531.1         1556-3342
            3586-4809           AC096762.3         57163-58386         c
FEATURES             Location/Qualifiers
     source          1..4809
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q26"
     gene            1..4809
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /note="serine protease 12"
                     /db_xref="GeneID:8492"
                     /db_xref="HGNC:HGNC:9477"
                     /db_xref="MIM:606709"
     exon            1..785
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             284..2911
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /note="brain-specific serine protease 3; leydin; protease,
                     serine, 12 (neurotrypsin, motopsin); protease, serine 12"
                     /codon_start=1
                     /product="neurotrypsin precursor"
                     /protein_id="NP_003610.2"
                     /db_xref="CCDS:CCDS3709.1"
                     /db_xref="GeneID:8492"
                     /db_xref="HGNC:HGNC:9477"
                     /db_xref="MIM:606709"
                     /translation="MTLARFVLALMLGALPEVVGFDSVLNDSLHHSHRHSPPAGPHYP
                     YYLPTQQRPPRTRPPPPLPRFPRPPRALPAQRPHALQAGHTPRPHPWGCPAGEPWVSV
                     TDFGAPCLRWAEVPPFLERSPPASWAQLRGQRHNFCRSPDGAGRPWCFYGDARGKVDW
                     GYCDCRHGSVRLRGGKNEFEGTVEVYASGVWGTVCSSHWDDSDASVICHQLQLGGKGI
                     AKQTPFSGLGLIPIYWSNVRCRGDEENILLCEKDIWQGGVCPQKMAAAVTCSFSHGPT
                     FPIIRLAGGSSVHEGRVELYHAGQWGTVCDDQWDDADAEVICRQLGLSGIAKAWHQAY
                     FGEGSGPVMLDEVRCTGNELSIEQCPKSSWGEHNCGHKEDAGVSCTPLTDGVIRLAGG
                     KGSHEGRLEVYYRGQWGTVCDDGWTELNTYVVCRQLGFKYGKQASANHFEESTGPIWL
                     DDVSCSGKETRFLQCSRRQWGRHDCSHREDVSIACYPGGEGHRLSLGFPVRLMDGENK
                     KEGRVEVFINGQWGTICDDGWTDKDAAVICRQLGYKGPARARTMAYFGEGKGPIHVDN
                     VKCTGNERSLADCIKQDIGRHNCRHSEDAGVICDYFGKKASGNSNKESLSSVCGLRLL
                     HRRQKRIIGGKNSLRGGWPWQVSLRLKSSHGDGRLLCGATLLSSCWVLTAAHCFKRYG
                     NSTRSYAVRVGDYHTLVPEEFEEEIGVQQIVIHREYRPDRSDYDIALVRLQGPEEQCA
                     RFSSHVLPACLPLWRERPQKTASNCYITGWGDTGRAYSRTLQQAAIPLLPKRFCEERY
                     KGRFTGRMLCAGNLHEHKRVDSCQGDSGGPLMCERPGESWVVYGVTSWGYGCGVKDSP
                     GVYTKVSAFVPWIKSVTKL"
     exon            786..924
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     exon            925..1103
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1104..1254
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1433
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1575
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..1772
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1773..1914
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1915..2120
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     exon            2121..2199
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     exon            2200..2322
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     exon            2323..2603
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     exon            2604..4809
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3113..3118
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /note="hexamer: AATGAA"
     polyA_site      3133
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /note="major polyA site"
     regulatory      4783..4788
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
                     /note="hexamer: AATAAA"
     polyA_site      4809
                     /gene="PRSS12"
                     /gene_synonym="BSSP-3; BSSP3; MRT1"
ORIGIN      
        1 gctgcgtccg cgccttctct tttccggtcc tctccgccgg ccggggctcg gctgagctcc
       61 agatttcccc acccgcggcc gccgccaggg gacaggagcc gaggcgcggc agggcaccag
      121 cggcgggagg caaggttggg gaggcgaggg cggtccgcgt gcgggggcgg gagggggctg
      181 ggggattcga gggacgcggc agccccgccc ccgccccctc ctcttctccg ctccaagccc
      241 gagaagctgg ggagcatgga ccagaccccg cagcgctggc accatgacgc tcgcccgctt
      301 cgtgctagcc ctgatgttag gggcgctccc cgaagtggtc ggctttgatt ctgtcctcaa
      361 tgattccctc caccacagcc accgccattc gccccctgcg ggtccgcact acccctatta
      421 ccttcccacc cagcagcggc ccccgaggac gcgtccgccg ccgcctctcc cgcgcttccc
      481 gcgccccccg cgggcgctcc ctgcccagcg cccgcacgcc ctccaggccg ggcacacgcc
      541 ccggccgcac ccctggggct gccccgccgg cgagccatgg gtcagcgtga cggacttcgg
      601 cgccccgtgt ctgcggtggg cggaggtgcc acccttcctg gagcggtcgc ccccagcgag
      661 ctgggctcag ctgcgaggac agcgccacaa cttttgtcgg agccccgacg gcgcgggcag
      721 accctggtgt ttctacggag acgcccgtgg caaggtggac tggggctact gcgactgcag
      781 acacggatca gtacgacttc gtggcggcaa aaatgagttt gaaggcacag tggaagtata
      841 tgcaagtgga gtttggggca ctgtctgtag cagccactgg gatgattctg atgcatcagt
      901 catttgtcac cagctgcagc tgggaggaaa aggaatagca aaacaaaccc cgttttctgg
      961 actgggcctt attcccattt attggagcaa tgtccgttgc cgaggagatg aagaaaatat
     1021 actgctttgt gaaaaagaca tctggcaggg tggggtgtgt cctcagaaga tggcagctgc
     1081 tgtcacgtgt agcttttccc atggcccaac gttccccatc attcgccttg ctggaggcag
     1141 cagtgtgcat gaaggccggg tggagctcta ccatgctggc cagtggggaa ccgtttgtga
     1201 tgaccaatgg gatgatgccg atgcagaagt gatctgcagg cagctgggcc tcagtggcat
     1261 tgccaaagca tggcatcagg catattttgg ggaagggtct ggcccagtta tgttggatga
     1321 agtacgctgc actgggaatg agctttcaat tgagcagtgt ccaaagagct cctggggaga
     1381 gcataactgt ggccataaag aagatgctgg agtgtcctgt acccctctaa cagatggggt
     1441 catcagactt gcaggtggga aaggcagcca tgagggtcgc ttggaggtat attacagagg
     1501 ccagtgggga actgtctgtg atgatggctg gactgagctg aatacatacg tggtttgtcg
     1561 acaattggga tttaaatatg gtaaacaagc atctgccaac cattttgaag aaagcacagg
     1621 gcccatatgg ttggatgacg tcagctgctc aggaaaggaa accagatttc ttcagtgttc
     1681 caggcgacag tggggaaggc atgactgcag ccaccgcgaa gatgttagca ttgcctgcta
     1741 ccctggcggc gagggacaca ggctctctct gggttttcct gtcagactga tggatggaga
     1801 aaataagaaa gaaggacgag tggaggtttt tatcaatggc cagtggggaa caatctgtga
     1861 tgatggatgg actgataagg atgcagctgt gatctgtcgt cagcttggct acaagggtcc
     1921 tgccagagca agaaccatgg cttactttgg agaaggaaaa ggacccatcc atgtggataa
     1981 tgtgaagtgc acaggaaatg agaggtcctt ggctgactgt atcaagcaag atattggaag
     2041 acacaactgc cgccacagtg aagatgcagg agttatttgt gattattttg gcaagaaggc
     2101 ctcaggtaac agtaataaag agtccctctc atctgtttgt ggcttgagat tactgcaccg
     2161 tcggcagaag cggatcattg gtgggaaaaa ttctttaagg ggtggttggc cttggcaggt
     2221 ttccctccgg ctgaagtcat cccatggaga tggcaggctc ctctgcgggg ctacgctcct
     2281 gagtagctgc tgggtcctca cagcagcaca ctgtttcaag aggtatggca acagcactag
     2341 gagctatgct gttagggttg gagattatca tactctggta ccagaggagt ttgaggaaga
     2401 aattggagtt caacagattg tgattcatcg ggagtatcga cccgaccgca gtgattatga
     2461 catagccctg gttagattac aaggaccaga agagcaatgt gccagattca gcagccatgt
     2521 tttgccagcc tgtttaccac tctggagaga gaggccacag aaaacagcat ccaactgtta
     2581 cataacagga tggggtgaca caggacgagc ctattcaaga acactacaac aagcagccat
     2641 tcccttactt cctaaaaggt tttgtgaaga acgttataag ggtcggttta cagggagaat
     2701 gctttgtgct ggaaacctcc atgaacacaa acgcgtggac agctgccagg gagacagcgg
     2761 aggaccactc atgtgtgaac ggcccggaga gagctgggtg gtgtatgggg tgacctcctg
     2821 ggggtatggc tgtggagtca aggattctcc tggtgtttat accaaagtct cagcctttgt
     2881 accttggata aaaagtgtca ccaaactgta attcttcatg gaaacttcaa agcagcattt
     2941 aaacaaatgg aaaactttga acccccacta ttagcactca gcagagatga caacaaatgg
     3001 caagatctgt ttttgctttg tgttgtggta aaaaattgtg taccccctgc tgcttttgag
     3061 aaatttgtga acattttcag aggcctcagt gtagtggaag tgataatcct taaatgaaca
     3121 ttttctaccc taatttcact ggagtgactt attctaagcc tcatctatcc cctacctatt
     3181 tctcaaaatc attctatgct gattttacaa aagatcattt ttacatttga actgagaacc
     3241 ccttttaatt gaatcagtgg tgtctgaaat catattaaat acccacattt gacataaatg
     3301 cggtaccctt tactacactc atgagtggca tatttatgct taggtctttt caaaagactt
     3361 gacaagaaat cttcatattc tctgtagcct ttgtcaagtg aggaaatcag tggttaaaga
     3421 attccactat aaacttttag gcctgaatag gagtagtaaa gcctcaagga catctgcctg
     3481 tcacaatata ttctcaaagt gatctgatat ttggaaacaa gtatccttgt tgagtaccaa
     3541 gtgctacaga aaccataaga taaaaatact ttctacctac agcgtataaa ctagcaaaat
     3601 ttgaaaggat ttctggtaac taaatgccag ctggacatac aacctatttt atccaacaca
     3661 ttaacatatc tactatattt gcttttaaca agcacctcat catagtccac gttccccgac
     3721 catgatgtaa gagtgccacc cactgacact tccctgtaac tgacttatac ctgcaggttt
     3781 tcccaagccc aacctgatac aatccaatct taaaatatac tagtcaaaat gctttcctgg
     3841 cctacacatt gaaaagttct aatacataca gcagttataa catatgccag gcactgcatt
     3901 aggcagcttt gcacatcact gacaatttgc aaaaggccag taaatcttat ggtagtagcc
     3961 cttgttttca aatgggggaa aacaggcttg cctcaaagtg agaccagttg gtgaaactga
     4021 ttccaaactc cagaaaaaat gctgattttt ttccccatgg ttctcctacc taaatgattg
     4081 gtttccctat ggctatttct ccaagagtta agggatagct gcttaactat gcacctttac
     4141 agaacattct tagcagtaat gctcaaattt aaaaggcaca ctcaagatac ttccatgtca
     4201 tggatccttc cccaggtccc agtagtataa atatagggaa gaggttagca tgaacttaca
     4261 aattgtttta agtaatcctc ttgaatgcca gtcattaaag gactttgccc ttctacatca
     4321 aattacatcc ttttcacaaa tccccatttc tgtaataact ggtgcaaacc taaaggtgct
     4381 ttatagtttt actactttgc agatttgcaa tgctgcatat aatgcagaag agcattaaaa
     4441 acttttgtaa aaactcatga ttttgataaa cttttaaagt agcgtttata tgtaaataga
     4501 actacacatg gcacacacac ttgcacaagg gcttcagaaa aacgtgcaat ataggtgaga
     4561 aaaatgtcta ttgaaacttt ctcacaggct gcccttataa ttaaactagt gttggggcaa
     4621 gcaacatctg tttcaagtag atcagggact agcaaaccta aaaggcagca agcagcctgc
     4681 agtttgctca atccttaaga atacatggtt catacaacat gcttttacta tgtcttaagt
     4741 gtgacttttg aaagatacaa gtgttctgtg catatttgtg taaataaata cataattttc
     4801 caccttgta
//
