LOCUS       NM_024677               4839 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens NOP2/Sun RNA methyltransferase family member 7
            (NSUN7), transcript variant 1, mRNA.
ACCESSION   NM_024677
VERSION     NM_024677.6
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 4839)
  AUTHORS   Ortiz-Barahona,V., Soler,M., Davalos,V., Garcia-Prieto,C.A.,
            Janin,M., Setien,F., Fernandez-Rebollo,I., Bech-Serra,J.J., De La
            Torre,C., Guil,S., Villanueva,A., Zhang,P.H., Yang,L.,
            Guarnacci,M., Schumann,U., Preiss,T., Balaseviciute,U., Montal,R.,
            Llovet,J.M. and Esteller,M.
  TITLE     Epigenetic inactivation of the 5-methylcytosine RNA
            methyltransferase NSUN7 is associated with clinical outcome and
            therapeutic vulnerability in liver cancer
  JOURNAL   Mol Cancer 22 (1), 83 (2023)
   PUBMED   37173708
  REMARK    GeneRIF: Epigenetic inactivation of the 5-methylcytosine RNA
            methyltransferase NSUN7 is associated with clinical outcome and
            therapeutic vulnerability in liver cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4839)
  AUTHORS   Ren,H.Y., Zhong,R., Ding,X.P., Chen,Z.Y. and Jing,Y.L.
  TITLE     Investigation of polymorphisms in exon7 of the NSUN7 gene among
            Chinese Han men with asthenospermia
  JOURNAL   Genet Mol Res 14 (3), 9261-9268 (2015)
   PUBMED   26345859
  REMARK    GeneRIF: Our findings revealed that genetic polymorphisms in exon7
            of the NSUN7 gene are not associated with asthenospermia in Chinese
            Han men.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4839)
  AUTHORS   Khosronezhad,N., Hosseinzadeh Colagar,A. and Mortazavi,S.M.
  TITLE     The Nsun7 (A11337)-deletion mutation, causes reduction of its
            protein rate and associated with sperm motility defect in infertile
            men
  JOURNAL   J Assist Reprod Genet 32 (5), 807-815 (2015)
   PUBMED   25702163
  REMARK    GeneRIF: Nsun7 (A11337)-deletion mutation, causes reduction of its
            protein rate and associated with sperm motility defect in infertile
            men.
REFERENCE   4  (bases 1 to 4839)
  AUTHORS   Khosronezhad,N., Colagar,A.H. and Jorsarayi,S.G.
  TITLE     T26248G-transversion mutation in exon7 of the putative
            methyltransferase Nsun7 gene causes a change in protein folding
            associated with reduced sperm motility in asthenospermic men
  JOURNAL   Reprod Fertil Dev 27 (3), 471-480 (2015)
   PUBMED   24384068
  REMARK    GeneRIF: mutant protein structures of Nsun7 indicated that the
            amino acid serine was converted to alanine, the structure of the
            helix, coil and strand was changed, and the protein folding and
            ligand binding sites were changed in samples from asthenospermic
            men with a transversion mutation in exon 7, indicating impairment
            of protein function. Because Nsun7 plays a role in sperm motility,
            mutation in exon 7 may lead to infertility.
REFERENCE   5  (bases 1 to 4839)
  AUTHORS   Harris,T., Marquez,B., Suarez,S. and Schimenti,J.
  TITLE     Sperm motility defects and infertility in male mice with a mutation
            in Nsun7, a member of the Sun domain-containing family of putative
            RNA methyltransferases
  JOURNAL   Biol Reprod 77 (2), 376-382 (2007)
   PUBMED   17442852
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131953.1.
            
            On Nov 23, 2018 this sequence version replaced NM_024677.5.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: BC042401.1, SRR1660803.206944.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381782.7/ ENSP00000371201.2
            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               AC131953.1         12052-12397
            347-735             AC131953.1         12700-13088
            736-794             AC131953.1         22531-22589
            795-925             AC131953.1         23268-23398
            926-1078            AC131953.1         36362-36514
            1079-1262           AC131953.1         36864-37047
            1263-1473           AC131953.1         38146-38356
            1474-1617           AC131953.1         52699-52842
            1618-1719           AC131953.1         56472-56573
            1720-1837           AC131953.1         60884-61001
            1838-1961           AC131953.1         69158-69281
            1962-4839           AC131953.1         70404-73281
FEATURES             Location/Qualifiers
     source          1..4839
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p14"
     gene            1..4839
                     /gene="NSUN7"
                     /note="NOP2/Sun RNA methyltransferase family member 7"
                     /db_xref="GeneID:79730"
                     /db_xref="HGNC:HGNC:25857"
                     /db_xref="MIM:617185"
     exon            1..346
                     /gene="NSUN7"
                     /inference="alignment:Splign:2.1.0"
     exon            347..735
                     /gene="NSUN7"
                     /inference="alignment:Splign:2.1.0"
     CDS             438..2594
                     /gene="NSUN7"
                     /note="isoform 1 is encoded by transcript variant 1;
                     putative methyltransferase NSUN7; NOL1/NOP2/Sun domain
                     family member 7; NOP2/Sun domain family, member 7"
                     /codon_start=1
                     /product="putative methyltransferase NSUN7 isoform 1"
                     /protein_id="NP_078953.4"
                     /db_xref="CCDS:CCDS3461.2"
                     /db_xref="GeneID:79730"
                     /db_xref="HGNC:HGNC:25857"
                     /db_xref="MIM:617185"
                     /translation="MLNSTGELEFSNEEDPEIISQLTSLPLSGGKSSAGVPEKTGYPD
                     SVYVMAANIFQGIRIEKSAQKVLIKYGNEPLRSLSESEDQSFQRLSYELAFSALKYQD
                     ILETILIDSCIFPSTTIPDHLSSLIIVMLYDFQDRKFQTRVLSDNEEPISEVQEVENL
                     LNSFKIKLAAALARCRIKHDALSIYHILPETVRKQELRASTLPLYAWINTCKISPEEV
                     YNNLKRRGYNKVKSVLHIDDKVFAVDQHCYDVLIFPSHLKNDLINIDLFKDYKLIFQD
                     KSRSLAVHSVKALLNMDDDVLMVNTGSWYTVSHMSILTNNNTSKVFVCGVQSQAKDPD
                     LKTLFTKIGCKNIEILHEKFINIESKDHRLQKVKVILLLPRCSGLGVSNPVEFILNEH
                     EDTEFLKDHSQGGISVDKLHVLAQQQYEQLTHAMKFTKAQAVVYCTCSVFPEENEAVV
                     KKALEFQDLGNKGQPYRLSPPVLPLCSLKEIQLSTDKFFRMEPSEITNGCFLSILTRE
                     RDPSETVSVNDVLARAAAKGLLDGIELGKSSKREKKKKKSKTSLTKGATTDNGIQMKI
                     AEFLNRETKASANLSETVTKPPLPQKNTAQVGASSQTRKPNKLAPHPAVPAFVKNTCP
                     SRPRERQTHFLRPRPEDRMVALKPIKIVLPPVFMPFSSPQGIRSRMPTQHLYCRWVAP
                     KALVPTCLPTHSLSRKEEKPKDDTPSSLLRPPRRWL"
     exon            736..794
                     /gene="NSUN7"
                     /inference="alignment:Splign:2.1.0"
     exon            795..925
                     /gene="NSUN7"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1078
                     /gene="NSUN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1262
                     /gene="NSUN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1263..1473
                     /gene="NSUN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..1617
                     /gene="NSUN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..1719
                     /gene="NSUN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1720..1837
                     /gene="NSUN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1838..1961
                     /gene="NSUN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1962..4839
                     /gene="NSUN7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3513..3518
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSUN7"
                     /note="hexamer: ATTAAA"
     polyA_site      3539
                     /gene="NSUN7"
                     /note="major polyA site"
     regulatory      3623..3628
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSUN7"
                     /note="hexamer: AATAGA"
     polyA_site      3640
                     /gene="NSUN7"
                     /note="major polyA site"
     regulatory      4818..4823
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSUN7"
                     /note="hexamer: ATTAAA"
     polyA_site      4839
                     /gene="NSUN7"
                     /note="major polyA site"
ORIGIN      
        1 agtcgactgc cggagactcg ggaggctgag ctttcctcgg cctgagccag ccagaccccg
       61 ggcaccgcgc tcacccctct tcgccgccac gtccgcgaag gcctcacgcg cgaggccagg
      121 cgaggccccg aggcgcccac cacttcacga caccggagcg aaccgggcgc cagaggctgc
      181 gacccccctg ccccgaatcc tgccggtggg agtggctgca tttgaaccaa acggccttcg
      241 cgggcagcag ccgtcgcccc gcagtcccgg ggctcccaag ggcctgtgac cgacgccgcc
      301 ctccgcgtct tcgtccccga agccccggga accatccgcc ctcgggagac catgctgcag
      361 atgcgaggaa agccgtttcc tggaacatcg gaattctaac cccagggtga aggactcacg
      421 acaggcgagg ggcagacatg ctgaattcca cgggcgaact ggagttttcg aacgaagaag
      481 atcccgagat catctcccaa ctcacttccc tgcctctgtc cggtgggaaa agctcagctg
      541 gtgtgcccga aaaaacgggc tatccggact ccgtttatgt catggcagcc aacatttttc
      601 agggtattcg aatcgaaaag tcggcacaga aagtcttaat caagtatggg aatgaacccc
      661 tgcggtcctt gtccgagtct gaggatcagt cctttcagcg tttgtcttat gagctggctt
      721 tcagtgccct gaaatatcaa gatattttgg aaactatatt gatagacagc tgtatcttcc
      781 caagtaccac aataccagat catttgagca gtcttattat tgtgatgcta tatgatttcc
      841 aagatagaaa atttcaaact cgtgtccttt ctgataatga agagcccata tcagaagttc
      901 aagaagtaga gaaccttctt aacagtttta agataaaatt ggctgcagca ttggcaagat
      961 gtcgaatcaa gcatgatgcc ctttcaattt accacatcct tccagaaaca gttaggaaac
     1021 aggaactaag ggcctccact ttaccacttt atgcttggat aaatacttgt aaaatcagcc
     1081 ctgaagaagt ttataataat ttgaagagaa gaggctataa taaagtcaaa tctgtattgc
     1141 atattgatga taaagtcttt gctgtggatc aacattgcta tgatgtctta atttttccat
     1201 ctcatcttaa aaatgatctt ataaatatag atcttttcaa agattacaaa cttatatttc
     1261 aggacaaatc tcgaagtctt gctgtccatt ctgtaaaggc tttattaaat atggatgatg
     1321 atgtcttaat ggtcaataca ggctcatggt acacagtttc ccacatgtca attttaacaa
     1381 ataataatac ctcaaaagta tttgtgtgtg gagtacaatc acaagctaag gatcctgact
     1441 tgaagaccct tttcacaaaa ataggatgta aaaatattga aatacttcat gagaaattta
     1501 ttaacattga atcaaaggat cacaggttac agaaagttaa agtgattttg ctgctacctc
     1561 gttgttcagg actgggtgtt agtaatccag tagaatttat tttaaatgaa catgaagata
     1621 cagaattcct taaagatcac tctcaaggag gcatctcagt ggacaaactt cacgttcttg
     1681 ctcaacagca gtatgaacag ctaacacatg caatgaaatt tactaaagct caagcagttg
     1741 tttactgcac atgttcagtt tttccagaag aaaatgaagc tgttgttaag aaagcactgg
     1801 aatttcaaga ccttgggaat aaaggacaac cttacaggct tagtcctcct gttcttccac
     1861 tgtgctcctt aaaggaaatt caattgtcta ctgataaatt tttcagaatg gaaccatctg
     1921 aaattaccaa tggttgtttt ctttctattt taacaaggga gcgggaccct tctgagacag
     1981 tgtctgtgaa tgatgttttg gcccgagctg cagccaaggg tctgctggat gggattgagt
     2041 tgggtaaatc atcaaaacgg gagaagaaga agaaaaaatc aaaaacatca ttgacaaaag
     2101 gtgccactac tgataatggc atccaaatga aaattgctga gttcctgaat cgagaaacta
     2161 aagccagtgc taatctatca gagactgtaa caaaaccacc tcttccccag aaaaatactg
     2221 ctcaagtggg ggcttcctca cagaccagaa aacccaacaa gctggccccc catcctgcag
     2281 tgcctgcatt tgtgaagaac acttgtccct ccagaccgcg tgaacggcag acacacttct
     2341 taagacctcg gccagaagac agaatggttg ctctgaaacc catcaagatt gttctgcctc
     2401 cagtctttat gccattttca agtccccaag ggatcagatc tcggatgcca actcaacatt
     2461 tgtactgtcg ttgggttgca cccaaggcac ttgtgcccac ctgccttccc acacactcac
     2521 tatccagaaa agaggaaaag cctaaagatg acacaccttc ctccctactc aggcctcctc
     2581 ggcgatggct ttgattgtct tgtgtttttt ataggggcca aagagcagtt gatttttttt
     2641 caaagtctag tatttctctg aagattctac atctctacac aagatattca ttcttttggt
     2701 cacctaggga tcttctaagt gtgatattac tttcagagaa ttcagacaag tgagaaacaa
     2761 taatgtagga gtcagcaaag cagaattcag agacttcagc caatcactgc tgctctgaga
     2821 ggatccagtt agagactcag tatcagcggt cagaacttat ctcactcctg tgaactttca
     2881 ggctggactt aaagctgcca agtttcccct gcagggaagg aaacactgcc tcccttcagc
     2941 aggtagctca ttagaaagcc aaacaggcaa acgatcctgg cctctcccgc cagctgaccg
     3001 ctcttcagca tccatgcggt tgtagtcgtg actttctcag tcacgatcaa gggtgatttt
     3061 ttcttaaata tcaagctgtt ctttgaacag ggaatgaaca tgagtttttg taacgtgact
     3121 gaagttgagt ttaagtagga agcgcaggaa gttcccaagt gccaggtgtg tgtagctcag
     3181 agttcctttt acagtgaggt gtctctcact gggggagctt ccaggatcct gagcagactg
     3241 gacacaatca tctctccctt cctctatgtc aagcactgtt acaaaagact gtgagcaaat
     3301 ttccatctaa atattaataa ttctgaagaa gaggcaaaac tgttgaatgc aagcgatacc
     3361 tattgttgaa gaaacccaca aatttctgat tctaagatca ggggatacaa caaaatctac
     3421 aagtcatttc aaatagcaca caggaatcaa actttggtaa atcatttctg aggcacaatt
     3481 aaatatattg tagcactatg ttaattaatt atattaaatg tcgattcatc ttgaatgtat
     3541 tctcaattgc ctaccaaaaa ttggtatgat tatcatttct gggtctactg atttttcatc
     3601 atggcaacag aaattgtcat taaatagaat taagatacaa ctatatatct tattatttaa
     3661 aaacattcat agacatattc ataaagtttg aatttaaagt tttatttttg caattcagtt
     3721 gtatagaaat gttacataaa ttcctaaatg ctcaattcag gtggcatgat ttttagaata
     3781 ttatcttctt caagatgaat acttaggtct acttcagctc tgatattcta tttttacttt
     3841 cttacttgaa gtgagaaaag agaatggtga attgtattat agcggtaata cattattttt
     3901 attttagctt agatttacat ttatcagtaa aacgtgtcag tgggctgggt gcagtggctc
     3961 acatctgtaa tctcagcagt ttgggaggct gaggtgggca cgccacttga gcaccggagt
     4021 tccagacgag cctggacaac atggcgaaac cccaaaaccc catctctaca aaaaatacaa
     4081 aaattagctg ggtgtggtgg gacacgcctg tagtcccagc tacttaggag gctgaggtac
     4141 gaggatctct tgagtccagg aggtgcaggt tgcagtgagc caatattgcc ccactgcact
     4201 ccagcctggg aagcagagtg agaccttgcc tcaaaaaaaa aaaaaaaaaa aaaaaagtgt
     4261 caatgaagaa aggaaacaag actttttata gttgaaccag gcttattgta ttttaaatcc
     4321 ctgaagaaga attcttcatg ttatcactct tgtacagaaa gatataaagt gctcagctta
     4381 ttttgctgat tttgaaaatc aaacactatc tccttgccct aaaattatag cgtgtggctc
     4441 atcctcttat cccacccaga tttctatctg gttggttagg gtagtccatg cctcaaggaa
     4501 ggcggtgcag cttaatttaa catattgttc agtaaagaat cccattgtgt atcataagaa
     4561 tcccttatcc ttttcgggcc ctccaccata ccagactgaa aagtattcca ttgtccagaa
     4621 gtagctggtc ttgagatttt tattttcaag tgtattttct gtgatgttgt ctcattgtta
     4681 tggaatagtt taggataatt ttctgatctc tacagtagca tgtgaagtca caatttgttg
     4741 ccacttacat tgattatctc ctaacatgca tttggcacta aattattttt ctctttagaa
     4801 gtatatgaag attctgaatt aaaccattca ttaattaca
//
