LOCUS       NM_003787               5319 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1,
            mRNA.
ACCESSION   NM_003787
VERSION     NM_003787.5
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 5319)
  AUTHORS   Tsai,M.C., Hsu,C.H., Chu,S.K., Roy-Gagnon,M.H. and Lin,S.H.
  TITLE     Genome-wide association study of age at menarche in the Taiwan
            Biobank suggests NOL4 as a novel associated gene
  JOURNAL   J Hum Genet 68 (5), 339-345 (2023)
   PUBMED   36710296
  REMARK    GeneRIF: Genome-wide association study of age at menarche in the
            Taiwan Biobank suggests NOL4 as a novel associated gene.
REFERENCE   2  (bases 1 to 5319)
  AUTHORS   Lee,J.H., Shin,D.H., Lee,S.Y., Park,J.Y., Kim,S.Y., Hwang,C.S.,
            Lee,H.J., Na,J.Y. and Kim,J.Y.
  TITLE     NOL4 is a novel nuclear marker of small cell carcinoma and other
            neuroendocrine neoplasms
  JOURNAL   Histol Histopathol 37 (11), 1091-1098 (2022)
   PUBMED   36282054
  REMARK    GeneRIF: NOL4 is a novel nuclear marker of small cell carcinoma and
            other neuroendocrine neoplasms.
REFERENCE   3  (bases 1 to 5319)
  AUTHORS   Kim,Y.R., Kim,K.U., Lee,J.H., Kim,D.W., Chung,J.H., Kim,Y.D.,
            Shin,D.H., Lee,M.K., Shin,Y.I. and Lee,S.Y.
  TITLE     Cancer Testis Antigen, NOL4, Is an Immunogenic Antigen Specifically
            Expressed in Small-Cell Lung Cancer
  JOURNAL   Curr Oncol 28 (3), 1927-1937 (2021)
   PUBMED   34065612
  REMARK    GeneRIF: Cancer Testis Antigen, NOL4, Is an Immunogenic Antigen
            Specifically Expressed in Small-Cell Lung Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5319)
  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   5  (bases 1 to 5319)
  AUTHORS   Kumari,P.K., Ali,A., Singh,S.K., Chaurasia,A. and Raman,R.
  TITLE     Genetic heterogeneity in Van der Woude syndrome: identification of
            NOL4 and IRF6 haplotype from the noncoding region as candidates in
            two families
  JOURNAL   J Genet 97 (1), 275-285 (2018)
   PUBMED   29666346
  REMARK    GeneRIF: the cosegregation of an intronic rare variant in NOL4 in
            one family, and a haplotype consisting of three variants in the
            noncoding region of IRF6 (introns 1, 8 and 3'UTR) in the other
            family, are reported.
REFERENCE   6  (bases 1 to 5319)
  AUTHORS   Demokan,S., Chuang,A.Y., Pattani,K.M., Sidransky,D., Koch,W. and
            Califano,J.A.
  TITLE     Validation of nucleolar protein 4 as a novel methylated tumor
            suppressor gene in head and neck cancer
  JOURNAL   Oncol Rep 31 (2), 1014-1020 (2014)
   PUBMED   24337411
  REMARK    GeneRIF: NOL4 was identified as a highly specific promoter
            methylated gene associated with head and neck squamous cell
            carcinoma
REFERENCE   7  (bases 1 to 5319)
  AUTHORS   Eriksson,N., Benton,G.M., Do,C.B., Kiefer,A.K., Mountain,J.L.,
            Hinds,D.A., Francke,U. and Tung,J.Y.
  TITLE     Genetic variants associated with breast size also influence breast
            cancer risk
  JOURNAL   BMC Med Genet 13, 53 (2012)
   PUBMED   22747683
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 5319)
  AUTHORS   Tsang,H.T., Connell,J.W., Brown,S.E., Thompson,A., Reid,E. and
            Sanderson,C.M.
  TITLE     A systematic analysis of human CHMP protein interactions:
            additional MIT domain-containing proteins bind to multiple
            components of the human ESCRT III complex
  JOURNAL   Genomics 88 (3), 333-346 (2006)
   PUBMED   16730941
REFERENCE   9  (bases 1 to 5319)
  AUTHORS   Ueki,N., Oda,T., Kondo,M., Yano,K., Noguchi,T. and Muramatsu,M.
  TITLE     Selection system for genes encoding nuclear-targeted proteins
  JOURNAL   Nat Biotechnol 16 (13), 1338-1342 (1998)
   PUBMED   9853615
REFERENCE   10 (bases 1 to 5319)
  AUTHORS   Ueki,N., Kondo,M., Seki,N., Yano,K., Oda,T., Masuho,Y. and
            Muramatsu,M.
  TITLE     NOLP: identification of a novel human nucleolar protein and
            determination of sequence requirements for its nucleolar
            localization
  JOURNAL   Biochem Biophys Res Commun 252 (1), 97-102 (1998)
   PUBMED   9813152
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104985.3, AC087397.10, AC018972.6 and AC010798.9.
            
            On Jun 18, 2020 this sequence version replaced NM_003787.4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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##
            Transcript exon combination :: SRR1803613.27528.1, AB017800.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261592.10/ ENSP00000261592.4
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1924              AC104985.3         139261-141184       c
            1925-2074           AC104985.3         46142-46291         c
            2075-2186           AC087397.10        10870-10981
            2187-2299           AC087397.10        11871-11983
            2300-2432           AC087397.10        22433-22565
            2433-2716           AC087397.10        96429-96712
            2717-2896           AC018972.6         32378-32557
            2897-3088           AC018972.6         33279-33470
            3089-3202           AC018972.6         47618-47731
            3203-3383           AC018972.6         107372-107552
            3384-5319           AC010798.9         174112-176047       c
FEATURES             Location/Qualifiers
     source          1..5319
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..5319
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /note="nucleolar protein 4"
                     /db_xref="GeneID:8715"
                     /db_xref="HGNC:HGNC:7870"
                     /db_xref="MIM:603577"
     exon            1..1924
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /inference="alignment:Splign:2.1.0"
     CDS             1661..3577
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     nucleolar localized protein; cancer/testis antigen 125"
                     /codon_start=1
                     /product="nucleolar protein 4 isoform 1"
                     /protein_id="NP_003778.2"
                     /db_xref="CCDS:CCDS11907.2"
                     /db_xref="GeneID:8715"
                     /db_xref="HGNC:HGNC:7870"
                     /db_xref="MIM:603577"
                     /translation="MESERDMYRQFQDWCLRTYGDSGKTKTVTRKKYERIVQLLNGSE
                     SSSTDNAKFKFWVKSKGFQLGQPDEVRGGGGGAKQVLYVPVKTTDGVGVDEKLSLRRV
                     AVVEDFFDIIYSMHVETGPNGEQIRKHAGQKRTYKAISESYAFLPREAVTRFLMSCSE
                     CQKRMHLNPDGTDHKDNGKPPTLVTSMIDYNMPITMAYMKHMKLQLLNSQQDEDESSI
                     ESDEFDMSDSTRMSAVNSDLSSNLEERMQSPQNLHGQQDDDSAAESFNGNETLGHSSI
                     ASGGTHSREMGDSNSDGKTGLEQDEQPLNLSDSPLSAQLTSEYRIDDHNSNGKNKYKN
                     LLISDLKMEREARENGSKSPAHSYSSYDSGKNESVDRGAEDLSLNRGDEDEDDHEDHD
                     DSEKVNETDGVEAERLKAFNMFVRLFVDENLDRMVPISKQPKEKIQAIIDSCRRQFPE
                     YQERARKRIRTYLKSCRRMKRSGFEMSRPIPSHLTSAVAESILASACESESRNAAKRM
                     RLERQQDESAPADKQCKPEATQATYSTSAVPGSQDVLYINGNGTYSYHSYRGLGGGLL
                     NLNDASSSGPTDLSMKRQLATSSGSSSSSNSRPQLSPTEINAVRQLVAGYRESAAFLL
                     RSADELENLILQQN"
     exon            1925..2074
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /inference="alignment:Splign:2.1.0"
     exon            2075..2186
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /inference="alignment:Splign:2.1.0"
     exon            2187..2299
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /inference="alignment:Splign:2.1.0"
     exon            2300..2432
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /inference="alignment:Splign:2.1.0"
     exon            2433..2716
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /inference="alignment:Splign:2.1.0"
     exon            2717..2896
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /inference="alignment:Splign:2.1.0"
     exon            2897..3088
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /inference="alignment:Splign:2.1.0"
     exon            3089..3202
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /inference="alignment:Splign:2.1.0"
     exon            3203..3383
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /inference="alignment:Splign:2.1.0"
     exon            3384..5319
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5293..5298
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /note="hexamer: AATAAA"
     polyA_site      5319
                     /gene="NOL4"
                     /gene_synonym="CT125; HRIHFB2255; NOLP"
                     /note="major polyA site"
ORIGIN      
        1 agcgtgtgga gctgcctgcg ctccgcccgg gctgtcagtc ccggctccag ccgccgcgag
       61 accttcccgg agacgcgcgc acacacagcg caccccctgc acaccgcaca ccctcgctcc
      121 cttgctcaca cacacgcaca cactcagcct ggccgagcag gagccactga ccattttgca
      181 agtgtcagga ccagctacag cgcggtgggc gcaaacatcc cgctttccct ttccgggatt
      241 tagtctggga gacgacgacg agggaagaag gtgggctcgg acgcagccca ggcgccgggc
      301 actggtcggg ccgttttcct ggcagagccg ctccccggga cgggcgcggg cctcgggtga
      361 gagtagaata aagaggagcg gccgcagccg ccgcgcgagg aggatgggaa ctcccctatt
      421 tccagctctg gaaacaaatg gatggaagtc ctgaatggag caactgctga cttcatctgc
      481 ttggaaaaat agtccagagg aactcatatt tggctactca gagcagtgga gggggtgtcc
      541 atgacgtggc agggggaaaa tagacaactg aaacctcccg tgtgaactgc aaactgtgac
      601 caagcaaggg gaaaatgatc tttctgtata tattttaatt tcgtgcaaag gttttcaagc
      661 atctgtatcc taaacttact tctatgtctt gttcagcaga aaccagagga gtcctgtctg
      721 ggggtcccat cattattcgg gatacccgcc gccagcggcc tgccttcggt tacccacatc
      781 cccctggaac ggatatctgt ttggggcact acaatctatc ctgtagaact atggccaaat
      841 ctccatcaat gctttgctaa tttctgggac ttaactcgta gaatctacat acagggctgg
      901 aatttattca aaatgcatct gaagaaatga cattttaaac cgttttaaaa aatatcttga
      961 taaaaaattc tgtaaaacag aatttgatag gtttaaaaac atgacaggta agaactttct
     1021 ctttctagtc ccttaacacc cgtcgtgggg aaggtcaaag caggacccag gaggaaggag
     1081 agatccggga cccgtgtgcc cttcggggct caaaggcgct gggcgggcgg ctgctttcgg
     1141 gagaggcgca gccctcactc ctggaccacg gggccagtgg ctggggaagc ttctggggcg
     1201 cgcgcgggga ggcggcgctg cgctccacct gcccagcccc ggacgcagcc cgggggcgag
     1261 gcgtctaggg accaccccaa ttcaatattg ggatttttaa taaaccaagg aatgggattt
     1321 taattattga aaacccagct cctctgggcc agaatggtgt tgggatggtc ctggtcacaa
     1381 aatattaaag agaccgaccg ctaagggaac aggaaaaacg tccgagacag ccgttgcaat
     1441 tacgaatgga ccagacttgg tagcacgggg cattgattgc tggtgcccaa ccggaccctc
     1501 ctcccctctt cccatccctt cccccaccca aagcaggctc ccgctgcggc cgggacctcg
     1561 catccctgca acgtggccgg ggctgcattt ttcatgagcc tagggtgaac aggtgcgaag
     1621 tgcgctggga gcatccggcc agcggccgag cgcggggaac atggagagcg agcgcgacat
     1681 gtaccgccag ttccaggact ggtgcctcag gacttacggg gactcaggca agaccaagac
     1741 ggtgacccgt aaaaaatacg aacggatcgt ccagctcctc aatggctccg agtcgagctc
     1801 cacggacaac gccaaattta aattctgggt caaatcgaag ggcttccagc tgggccagcc
     1861 ggacgaggtc cgcgggggag gcggcggcgc caagcaagtg ctctacgtgc ctgtcaagac
     1921 cacggatggc gtaggggtag atgagaagct atctttacga cgggtagctg tggttgaaga
     1981 tttctttgac attatttatt cgatgcatgt ggaaacgggg ccaaatggag aacaaattcg
     2041 gaaacacgct ggacaaaaga gaacttacaa agcaatttca gagagctatg ccttcctacc
     2101 aagagaagcg gtgacacgat ttctaatgag ctgctcagag tgccagaaaa gaatgcattt
     2161 aaacccagat ggaacagatc ataaagataa tggaaaacct cccactttgg tgaccagcat
     2221 gattgactac aacatgccaa ttaccatggc ctacatgaaa cacatgaagc tgcagctgct
     2281 aaactcacag caagatgagg atgaaagttc aatagaaagt gatgaatttg acatgagtga
     2341 ttcaacacgg atgtcagctg tgaactctga tcttagctcc aatcttgaag aaagaatgca
     2401 aagtccccag aatcttcatg gccagcaaga tgatgattct gctgcagaga gctttaatgg
     2461 caatgagact ctggggcaca gttcaattgc ttcaggggga acacacagca gggagatggg
     2521 agactccaac agtgatggca aaactgggct ggagcaagat gaacagccac tgaacctgag
     2581 tgacagtccc ctctctgcgc agctaacttc ggaatacaga atagatgatc acaacagtaa
     2641 tgggaaaaac aagtataaga atcttctaat ttctgacctc aagatggaac gagaggcgag
     2701 agaaaatgga agcaagtctc ctgcacatag ttactccagc tatgactctg gcaaaaatga
     2761 gagtgtagac cgaggagctg aggacctctc actaaacagg ggagatgagg acgaagatga
     2821 ccacgaggac catgacgatt cggagaaagt taatgagaca gacggcgttg aagccgagcg
     2881 gctgaaagct tttaatatgt ttgtcaggct gtttgtagat gaaaacttgg accgaatggt
     2941 cccaatctct aagcagccca aagaaaagat ccaggctatc attgactcat gcaggcgaca
     3001 attccctgag tatcaagagc gtgccagaaa acgtatacgt acttacctca agtcctgcag
     3061 gcggatgaaa agaagtggtt ttgagatgtc tcgacctatt ccttcccacc ttacttcagc
     3121 agttgcagag agtatcttgg cttcagcttg tgagagtgag agtagaaatg ccgccaagag
     3181 gatgcgtctg gagagacagc aggatgagtc tgctccagct gacaaacagt gtaaaccaga
     3241 ggcgacccag gccacttact caacatcagc tgttccaggc tcacaggacg tgctgtacat
     3301 caatggaaat gggacctata gttaccatag ttacagaggg ctaggagggg gtctgctaaa
     3361 tctgaatgat gcttccagca gtggacccac tgatctcagc atgaagagac aattggcgac
     3421 tagctcagga tcctccagca gctcaaactc cagaccccag ctgagtccaa ctgaaatcaa
     3481 tgccgtgaga cagcttgttg caggatatcg agaatcagct gcatttttat tgcgatctgc
     3541 agatgaactg gaaaatctca ttttacaaca gaactgagac agacgaccac catattcact
     3601 gaggtctaaa tttgcagttt ccactaatga cattttgatt tcccaacaga gatacttctg
     3661 gtcttactgc acagtctttt aagagaaata cttccattat gccacattgt ccttgatccg
     3721 taagtgatgt gttaaggtgc ttcaaaggaa ctctgacctc tgaagtactt gagctacttt
     3781 agtatgtcca gcctattgct ttttgtttta gtgtgtcacc ataaatatca ggggcataaa
     3841 aggctatcta ttcttaattc aaggataaaa cagaagaagc ttgtggtata aaacaatagt
     3901 tcaagatcca gctgaaatat tagtggaatt tgctactgac tcattggact gaaagctgaa
     3961 gtacctggca aaaaaaaaaa aaagaaaaaa aaaagccaaa tttcttgttg ctacaggata
     4021 taacaacaat gaaaaggatc tcgtatttta aaaaaatatg taatttttat aaaaagaaaa
     4081 cttgtttttc attcaaactt gtcattttta ctttggtaac tttttcatag gtcctaaaag
     4141 aaaactgttt tgagaaacta ctgtaagtac cttttccaca tccctttgcc ttctcctctt
     4201 tccaaattct ttctacaaaa ataacacttg atgctggaaa aacccttgcc tacgttcttt
     4261 caatcgtcac atcaggaact acttccaaga gaagcctgca tttctgctct catgctgatc
     4321 tcaaaaaccc cactcaacac tgcaacttta tcatagcagt tttcatccca gaattttttt
     4381 tttaataatg acaagacatg ttgttgaaaa aaaatcacac cttggtttct tagagctgct
     4441 cgttcctgat tgccgctgct gtctccaggc atccctctag cagcacctgg atgtagatga
     4501 ctgaatgtta agaggttgca agtgacaatc tgaaaatttg cactcttgtg tgtagttttc
     4561 ttttcatttc tttcagaaat agtttccaaa aagaccatta catctcctga tatgatttgt
     4621 ataattttca gttctagcta aaaataatgt aaggaactct cagcggatgc agctgcaact
     4681 tacaatgaac tgtgccctcc tatcccccat actttaccct tctttcttat tttatagtgt
     4741 gggatacaca tgagtgatgt tttctttgtg cactgagaca agcctatttt ttaaatattt
     4801 agggagaagt actttagttc atgcttctta tacaactttt ttctgttgtt tagctttggt
     4861 tggattacaa attctttgtg cattcctgaa tttgccttat ttcatgtaaa atttatgtca
     4921 ttcagttttt gacaatgagt ttgaggcatc agtgatattt cttatctact tgttacatat
     4981 agtttttcaa gtaatgactg tgattgtgac cgagtaatgt gcactttttc ttgtaactgt
     5041 ggacattgct atgctttttt cttctagtgt ttctagaatt actgttcctt acaattatgt
     5101 aaacaaaaaa caaaaaaaaa acttttgtga tactgttggt gaatataatg tgaaaaatct
     5161 tattgaaata tgagtatttt ggaaatacat agctgcacaa acatctttta agatgtggat
     5221 ttagagtttg cttatttaaa tgaaaattca aaaattgagg gctggtataa ttttctctgt
     5281 tttgtttggt ttaataaaca gatttctgtg ttaaaagaa
//
