LOCUS       NM_001300783            1707 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens proline rich 16 (PRR16), transcript variant 1, mRNA.
ACCESSION   NM_001300783 XM_005272010
VERSION     NM_001300783.2
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 1707)
  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 1707)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   3  (bases 1 to 1707)
  AUTHORS   Thiebaut,R., Esmiol,S., Lecine,P., Mahfouz,B., Hermant,A.,
            Nicoletti,C., Parnis,S., Perroy,J., Borg,J.P., Pascoe,L.,
            Hugot,J.P. and Ollendorff,V.
  TITLE     Characterization and Genetic Analyses of New Genes Coding for NOD2
            Interacting Proteins
  JOURNAL   PLoS One 11 (11), e0165420 (2016)
   PUBMED   27812135
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1707)
  AUTHORS   Scannell Bryan,M., Argos,M., Pierce,B., Tong,L., Rakibuz-Zaman,M.,
            Ahmed,A., Rahman,M., Islam,T., Yunus,M., Parvez,F., Roy,S.,
            Jasmine,F., Baron,J.A., Kibriya,M.G. and Ahsan,H.
  TITLE     Genome-wide association studies and heritability estimates of body
            mass index related phenotypes in Bangladeshi adults
  JOURNAL   PLoS One 9 (8), e105062 (2014)
   PUBMED   25133637
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1707)
  AUTHORS   Yamamoto,K., Gandin,V., Sasaki,M., McCracken,S., Li,W.,
            Silvester,J.L., Elia,A.J., Wang,F., Wakutani,Y., Alexandrova,R.,
            Oo,Y.D., Mullen,P.J., Inoue,S., Itsumi,M., Lapin,V., Haight,J.,
            Wakeham,A., Shahinian,A., Ikura,M., Topisirovic,I., Sonenberg,N.
            and Mak,T.W.
  TITLE     Largen: a molecular regulator of mammalian cell size control
  JOURNAL   Mol Cell 53 (6), 904-915 (2014)
   PUBMED   24656129
  REMARK    GeneRIF: Largen, the product of a gene PRR16, increases cell size
            upon overexpression in human cells.
REFERENCE   6  (bases 1 to 1707)
  AUTHORS   Wang,H., St Julien,K.R., Stevenson,D.K., Hoffmann,T.J., Witte,J.S.,
            Lazzeroni,L.C., Krasnow,M.A., Quaintance,C.C., Oehlert,J.W.,
            Jelliffe-Pawlowski,L.L., Gould,J.B., Shaw,G.M. and O'Brodovich,H.M.
  TITLE     A genome-wide association study (GWAS) for bronchopulmonary
            dysplasia
  JOURNAL   Pediatrics 132 (2), 290-297 (2013)
   PUBMED   23897914
REFERENCE   7  (bases 1 to 1707)
  AUTHORS   Kennedy,R.B., Ovsyannikova,I.G., Pankratz,V.S., Haralambieva,I.H.,
            Vierkant,R.A. and Poland,G.A.
  TITLE     Genome-wide analysis of polymorphisms associated with cytokine
            responses in smallpox vaccine recipients
  JOURNAL   Hum Genet 131 (9), 1403-1421 (2012)
   PUBMED   22610502
REFERENCE   8  (bases 1 to 1707)
  AUTHORS   Barberi,T., Willis,L.M., Socci,N.D. and Studer,L.
  TITLE     Derivation of multipotent mesenchymal precursors from human
            embryonic stem cells
  JOURNAL   PLoS Med 2 (6), e161 (2005)
   PUBMED   15971941
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC113418.2 and AC093301.3.
            
            On Nov 22, 2018 this sequence version replaced NM_001300783.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BP258446.1, BC092474.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000407149.7/ ENSP00000385118.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-346               AC113418.2         15684-16029         c
            347-1707            AC093301.3         93472-94832
FEATURES             Location/Qualifiers
     source          1..1707
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.1"
     gene            1..1707
                     /gene="PRR16"
                     /gene_synonym="DSC54; LARGEN"
                     /note="proline rich 16"
                     /db_xref="GeneID:51334"
                     /db_xref="HGNC:HGNC:29654"
                     /db_xref="MIM:615931"
     exon            1..346
                     /gene="PRR16"
                     /gene_synonym="DSC54; LARGEN"
                     /inference="alignment:Splign:2.1.0"
     CDS             188..1102
                     /gene="PRR16"
                     /gene_synonym="DSC54; LARGEN"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mesenchymal stem cell protein DSC54; proline-rich protein
                     16; protein Largen"
                     /codon_start=1
                     /product="protein Largen isoform 1"
                     /protein_id="NP_001287712.1"
                     /db_xref="CCDS:CCDS75290.1"
                     /db_xref="GeneID:51334"
                     /db_xref="HGNC:HGNC:29654"
                     /db_xref="MIM:615931"
                     /translation="MSAKSKGNPSSSCPAEGPPAASKTKVKEQIKIIVEDLELVLGDL
                     KDVAKELKEVVDQIDTLTSDLQLEDEMTDSSKTDTLNSSSSGTTASSLEKIKVQANAP
                     LIKPPAHPSAILTVLRKPNPPPPPPRLTPVKCEDPKRVVPTANPVKTNGTLLRNGGLP
                     GGPNKIPNGDICCIPNSNLDKAPVQLLMHRPEKDRCPQAGPRERVRFNEKVQYHGYCP
                     DCDTRYNIKNREVHLHSEPVHPPGKIPHQGPPLPPTPHLPPFPLENGGMGISHSNSFP
                     PIRPATVPPPTAPKPQKTILRKSTTTTV"
     exon            347..1707
                     /gene="PRR16"
                     /gene_synonym="DSC54; LARGEN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1676..1681
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRR16"
                     /gene_synonym="DSC54; LARGEN"
                     /note="hexamer: AATAAA"
     regulatory      1686..1691
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRR16"
                     /gene_synonym="DSC54; LARGEN"
                     /note="hexamer: AGTAAA"
     regulatory      1690..1695
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRR16"
                     /gene_synonym="DSC54; LARGEN"
                     /note="hexamer: AATAAT"
     polyA_site      1697
                     /gene="PRR16"
                     /gene_synonym="DSC54; LARGEN"
                     /note="major polyA site"
     polyA_site      1702
                     /gene="PRR16"
                     /gene_synonym="DSC54; LARGEN"
                     /note="major polyA site"
     polyA_site      1707
                     /gene="PRR16"
                     /gene_synonym="DSC54; LARGEN"
ORIGIN      
        1 agttgatggc agcaccactg tgcggccgcc cggccgagcg cggagcgcag ccactcgccg
       61 ctgcccaggg agcgcccaag atgtgggggg accggggcgg cagcggccgt agcagcgcca
      121 gggacggggg cacgcagcag cctccgctcg cccgcctgtc ctgacctgcc tcgcttgccc
      181 ccaaagaatg tcagccaagt ccaaggggaa cccctcctcg tcctgtccag ccgagggacc
      241 gccggcagcc tccaaaacca aggtgaagga acagatcaag atcatcgtgg aggatttgga
      301 attagtcctg ggcgacctga aggacgtggc caaggaactt aaggaggtgg ttgaccagat
      361 tgacaccctg acctctgacc tacagctgga ggatgagatg actgacagct ccaaaacgga
      421 cacgctgaat agtagctcaa gtggcacaac agcctccagc ctagagaaga tcaaagtgca
      481 ggctaatgca ccgcttatta aacccccagc acacccgtct gctatcctca cggtcctgag
      541 aaagccaaac cctccaccac ctcctccaag gttgacacct gtgaagtgtg aagaccccaa
      601 aagggtggtt ccaactgcca atcctgtaaa aaccaatggc acccttctac gaaatggagg
      661 cttaccaggt ggacctaaca aaattccaaa tggagatatc tgctgcatac ccaacagtaa
      721 cttggacaag gctccagtcc agcttctgat gcatagacct gaaaaagaca gatgtcccca
      781 ggcagggcct cgagaacgag ttcggtttaa tgaaaaagta cagtaccatg gctattgtcc
      841 tgactgtgat acccggtata acataaaaaa cagggaggtc cacttacaca gtgaacctgt
      901 ccacccaccg ggaaagattc ctcaccaagg ccctcccctc cctcctacac cccatctccc
      961 tcctttccca ctagaaaatg ggggaatggg aataagccac agtaacagct tcccccctat
     1021 cagacctgca actgtgcctc ctcccactgc accaaaacca cagaagacga tcttgaggaa
     1081 gtcaaccact acaaccgtgt gatgtatgcc attaaaaaaa ttgttttttt aattttctat
     1141 attataaaca taaaataagt aatgagcact ttctactcaa gcaataaaaa gcccaaatat
     1201 attaatcctg cattcagcaa agtggcataa aaatcacctg gtaagtatgc agcacattgc
     1261 ttatatcctg ggtatgcatt attttaaatg ttgtatcatt aaaaacctca gaatgatgaa
     1321 aaatatgaat gatgcattgt ttttgcaatt gacctatgac aaactgtgaa cctgcagatt
     1381 tcacctattt tgatttacta taagagctgg gatttgattc attttattta tgcctaagtc
     1441 atctatgcat taacatgtca tattcttaac tttgatctaa tgctttttac taggaaattt
     1501 taatactgaa ggactatttt attatttttt tctaaagatg tttgtcacta gtttttcatt
     1561 attaaatgct gaggccaata ccaagaagtt tattttctat attatacaat tatgaattac
     1621 atgctcagct atatatgtaa taaaatactt tggtctgtgg aaatattgtt aaatcaataa
     1681 acaatagtaa ataatgacaa aagcaaa
//
