LOCUS       NM_006248               1431 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens proline rich protein BstNI subfamily 2 (PRB2),
            transcript variant 1, mRNA.
ACCESSION   NM_006248 XM_005253473 XM_498536
VERSION     NM_006248.4
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 1431)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1431)
  AUTHORS   Manconi,B., Castagnola,M., Cabras,T., Olianas,A., Vitali,A.,
            Desiderio,C., Sanna,M.T. and Messana,I.
  TITLE     The intriguing heterogeneity of human salivary proline-rich
            proteins: Short title: Salivary proline-rich protein species
  JOURNAL   J Proteomics 134, 47-56 (2016)
   PUBMED   26375204
REFERENCE   3  (bases 1 to 1431)
  AUTHORS   Cito,L., Indovina,P., Forte,I.M., Pentimalli,F., Di Marzo,D.,
            Somma,P., Barone,D., Penon,A., Penon,D., Ceccherini,E., Micheli,P.,
            Saragoni,L., Di Domenico,M., Feola,A., Roviello,F., Mattioli,E.,
            Giordano,G.G. and Giordano,A.
  TITLE     pRb2/p130 localizes to the cytoplasm in diffuse gastric cancer
  JOURNAL   J Cell Physiol 230 (4), 802-805 (2015)
   PUBMED   25205458
  REMARK    GeneRIF: pRb2/p130 cytoplasmic delocalization can lead to cell
            cycle deregulation
REFERENCE   4  (bases 1 to 1431)
  AUTHORS   Teumer,A., Holtfreter,B., Volker,U., Petersmann,A., Nauck,M.,
            Biffar,R., Volzke,H., Kroemer,H.K., Meisel,P., Homuth,G. and
            Kocher,T.
  TITLE     Genome-wide association study of chronic periodontitis in a general
            German population
  JOURNAL   J Clin Periodontol 40 (11), 977-985 (2013)
   PUBMED   24024966
REFERENCE   5  (bases 1 to 1431)
  AUTHORS   Azen,E.A., Amberger,E., Fisher,S., Prakobphol,A. and Niece,R.L.
  TITLE     PRB1, PRB2, and PRB4 coded polymorphisms among human salivary
            concanavalin-A binding, II-1, and Po proline-rich proteins
  JOURNAL   Am J Hum Genet 58 (1), 143-153 (1996)
   PUBMED   8554050
REFERENCE   6  (bases 1 to 1431)
  AUTHORS   Kim,H.S., Lyons,K.M., Saitoh,E., Azen,E.A., Smithies,O. and
            Maeda,N.
  TITLE     The structure and evolution of the human salivary proline-rich
            protein gene family
  JOURNAL   Mamm Genome 4 (1), 3-14 (1993)
   PUBMED   8422499
REFERENCE   7  (bases 1 to 1431)
  AUTHORS   Kauffman,D.L., Bennick,A., Blum,M. and Keller,P.J.
  TITLE     Basic proline-rich proteins from human parotid saliva:
            relationships of the covalent structures of ten proteins from a
            single individual
  JOURNAL   Biochemistry 30 (14), 3351-3356 (1991)
   PUBMED   1849422
REFERENCE   8  (bases 1 to 1431)
  AUTHORS   Kim,H.S., Smithies,O. and Maeda,N.
  TITLE     A physical map of the human salivary proline-rich protein gene
            cluster covers over 700 kbp of DNA
  JOURNAL   Genomics 6 (2), 260-267 (1990)
   PUBMED   2307469
REFERENCE   9  (bases 1 to 1431)
  AUTHORS   Lyons,K.M., Stein,J.H. and Smithies,O.
  TITLE     Length polymorphisms in human proline-rich protein genes generated
            by intragenic unequal crossing over
  JOURNAL   Genetics 120 (1), 267-278 (1988)
   PUBMED   2851479
REFERENCE   10 (bases 1 to 1431)
  AUTHORS   Maeda,N., Kim,H.S., Azen,E.A. and Smithies,O.
  TITLE     Differential RNA splicing and post-translational cleavages in the
            human salivary proline-rich protein gene system
  JOURNAL   J Biol Chem 260 (20), 11123-11130 (1985)
   PUBMED   2993301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC078950.19, BX484538.1 and
            AC126171.3.
            
            On Nov 22, 2018 this sequence version replaced NM_006248.3.
            
            Summary: This gene encodes a member of the heterogeneous family of
            basic, proline-rich, human salivary glycoproteins. The encoded
            preproprotein undergoes proteolytic processing to generate one or
            more mature isoforms before secretion from the parotid glands.
            Multiple alleles of this gene exhibiting variations in the length
            of the tandem repeats, polymorphic cleavage sites and polymorphic
            stop codons have been identified. This gene is located in a cluster
            of closely related salivary proline-rich proteins on chromosome 12.
            [provided by RefSeq, May 2023].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968832,
                              SAMEA2150585 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000389362.6/ ENSP00000374013.4
            RefSeq Select criteria    :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC078950.19        89377-89379
            4-239               BX484538.1         1-236
            240-1322            AC078950.19        91068-92150
            1323-1431           AC126171.3         149-257
FEATURES             Location/Qualifiers
     source          1..1431
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.2"
     gene            1..1431
                     /gene="PRB2"
                     /gene_synonym="cP7; IB-9; PRPPRB1; Ps"
                     /note="proline rich protein BstNI subfamily 2"
                     /db_xref="GeneID:653247"
                     /db_xref="HGNC:HGNC:9338"
                     /db_xref="MIM:168810"
     exon            1..102
                     /gene="PRB2"
                     /gene_synonym="cP7; IB-9; PRPPRB1; Ps"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..1289
                     /gene="PRB2"
                     /gene_synonym="cP7; IB-9; PRPPRB1; Ps"
                     /note="proline-rich protein BstNI, subfamily-2 (parotid
                     size variant); salivary proline-rich protein 2; basic
                     salivary proline-rich protein 2; Basic proline-rich
                     peptide P-E; con1 glycoprotein"
                     /codon_start=1
                     /product="basic salivary proline-rich protein 2
                     preproprotein"
                     /protein_id="NP_006239.3"
                     /db_xref="CCDS:CCDS41757.2"
                     /db_xref="GeneID:653247"
                     /db_xref="HGNC:HGNC:9338"
                     /db_xref="MIM:168810"
                     /translation="MLLILLSVALLALSSAQNLNEDVSQEESPSLIAGNPQGAPPQGG
                     NKPQGPPSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQGPP
                     PQGDKSRSPRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPPGKPQ
                     GPPPQGDNKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQGPPPP
                     GKPQGPPPQGDNKSQSARSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGNKPQG
                     PPPPGKPQGPPPQGGSKSRSSRSPPGKPQGPPPQGGNQPQGPPPPPGKPQGPPPQGGN
                     KPQGPPPPGKPQGPPPQGGSKSRSARSPPGKPQGPPQQEGNNPQGPPPPAGGNPQQPQ
                     APPAGQPQGPPRPPQGGRPSRPPQ"
     exon            103..138
                     /gene="PRB2"
                     /gene_synonym="cP7; IB-9; PRPPRB1; Ps"
                     /inference="alignment:Splign:2.1.0"
     exon            139..1322
                     /gene="PRB2"
                     /gene_synonym="cP7; IB-9; PRPPRB1; Ps"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..1431
                     /gene="PRB2"
                     /gene_synonym="cP7; IB-9; PRPPRB1; Ps"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1411..1416
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRB2"
                     /gene_synonym="cP7; IB-9; PRPPRB1; Ps"
                     /note="hexamer: AATAAA"
     polyA_site      1431
                     /gene="PRB2"
                     /gene_synonym="cP7; IB-9; PRPPRB1; Ps"
                     /note="major polyA site"
ORIGIN      
        1 agcacagagt tgggagtgac tccagagcct cctgcaagat gctgttgatt ctgctgtcag
       61 tggccttgct ggccctgagc tcagctcaga acttaaatga agatgtcagc caggaagaat
      121 ctccctccct aatagcagga aatccacaag gagcaccccc acaaggaggc aacaaacctc
      181 aaggtccccc atctcctcca ggaaagccac aaggaccacc cccacaagga ggcaaccagc
      241 ctcaaggtcc cccacctcct ccaggaaagc cacaaggacc acccccacaa ggaggcaaca
      301 aacctcaagg tcccccacct ccaggaaagc cacaaggacc acccccacaa ggagacaagt
      361 cccgaagtcc ccgatctcct ccaggaaagc cacaaggacc acccccacaa ggaggcaacc
      421 agcctcaagg tcctccacct cctccaggaa agccacaagg accaccccca caaggaggca
      481 acaaacctca aggtccccca cctccaggaa agccacaagg accaccccca caaggagaca
      541 acaagtcccg aagttctcga tctcctccag gaaagccaca aggaccaccc ccacaaggag
      601 gcaaccagcc ccaaggtccc ccacctcctc caggaaagcc acaaggacca cccccacaag
      661 gaggcaacaa acctcaaggt cccccacctc caggaaagcc acaaggacca cccccacaag
      721 gagacaacaa gtcccaaagt gcccgatctc ctccaggaaa gccacaagga ccacccccac
      781 aaggaggcaa ccagccccaa ggtcccccac ctcctccagg aaagccacaa ggaccacccc
      841 cacaaggagg caacaaacct caaggtcccc cacctccagg aaagccacaa ggaccacccc
      901 cacaaggagg cagcaagtcc cgaagttctc gatctcctcc aggaaagcca caaggaccac
      961 ccccacaagg aggcaaccag cctcaaggtc ccccacctcc tccaggaaag ccacaaggac
     1021 cacccccaca aggaggcaac aaacctcaag gtcccccacc tccaggaaag ccacaaggac
     1081 cacccccaca aggaggcagc aagtcccgaa gtgcccgatc tcctccagga aagccacaag
     1141 gaccacccca acaagaaggc aacaatcctc aaggtccccc acctccagca ggaggcaatc
     1201 cccagcagcc tcaggcacct cctgctggac agccccaggg accaccacgc cctcctcaag
     1261 ggggcagacc ttccagacct ccccagtgac agcctcccca gtcatctagg attcaatgac
     1321 aggaagtgaa taagaagatg agagtgattc aaatgattca aatgccatga cattggaaaa
     1381 aggtcatcat agctctaact tctgtatacc aataaaataa ttagcttgca a
//
