LOCUS       NM_006515               2076 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens SET domain and mariner transposase fusion gene
            (SETMAR), transcript variant 1, mRNA.
ACCESSION   NM_006515
VERSION     NM_006515.4
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 2076)
  AUTHORS   Boroumand-Noughabi,S., Pashaee,A., Montazer,M., Rahmati,A.,
            Ayatollahi,H., Sadeghian,M.H. and Keramati,M.R.
  TITLE     Investigating the Expression Pattern of the SETMAR Gene Transcript
            Variants in Childhood Acute Leukemia: Revisiting an Old Gene
  JOURNAL   J Pediatr Hematol Oncol 45 (5), e603-e608 (2023)
   PUBMED   36706314
  REMARK    GeneRIF: Investigating the Expression Pattern of the SETMAR Gene
            Transcript Variants in Childhood Acute Leukemia: Revisiting an Old
            Gene.
REFERENCE   2  (bases 1 to 2076)
  AUTHORS   Chen,Q., Bates,A.M., Hanquier,J.N., Simpson,E., Rusch,D.B.,
            Podicheti,R., Liu,Y., Wek,R.C., Cornett,E.M. and Georgiadis,M.M.
  TITLE     Structural and genome-wide analyses suggest that transposon-derived
            protein SETMAR alters transcription and splicing
  JOURNAL   J Biol Chem 298 (5), 101894 (2022)
   PUBMED   35378129
  REMARK    GeneRIF: Structural and genome-wide analyses suggest that
            transposon-derived protein SETMAR alters transcription and
            splicing.
REFERENCE   3  (bases 1 to 2076)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2076)
  AUTHORS   Antoine-Lorquin,A., Arensburger,P., Arnaoty,A., Asgari,S.,
            Batailler,M., Beauclair,L., Belleannee,C., Buisine,N., Coustham,V.,
            Guyetant,S., Helou,L., Lecomte,T., Pitard,B., Stevant,I. and
            Bigot,Y.
  TITLE     Two repeated motifs enriched within some enhancers and origins of
            replication are bound by SETMAR isoforms in human colon cells
  JOURNAL   Genomics 113 (3), 1589-1604 (2021)
   PUBMED   33812898
  REMARK    GeneRIF: Two repeated motifs enriched within some enhancers and
            origins of replication are bound by SETMAR isoforms in human colon
            cells.
REFERENCE   5  (bases 1 to 2076)
  AUTHORS   Roman,Y., Oshige,M., Lee,Y.J., Goodwin,K., Georgiadis,M.M.,
            Hromas,R.A. and Lee,S.H.
  TITLE     Biochemical characterization of a SET and transposase fusion
            protein, Metnase: its DNA binding and DNA cleavage activity
  JOURNAL   Biochemistry 46 (40), 11369-11376 (2007)
   PUBMED   17877369
  REMARK    GeneRIF: Results suggest that Metnase's DNA cleavage activity,
            unlike those of other eukaryotic transposases, is not coupled to
            its sequence-specific DNA binding.
REFERENCE   6  (bases 1 to 2076)
  AUTHORS   Keravala,A., Liu,D., Lechman,E.R., Wolfe,D., Nash,J.A., Lampe,D.J.
            and Robbins,P.D.
  TITLE     Hyperactive Himar1 transposase mediates transposition in cell
            culture and enhances gene expression in vivo
  JOURNAL   Hum Gene Ther 17 (10), 1006-1018 (2006)
   PUBMED   16989604
  REMARK    GeneRIF: These data suggest that vectors based on the Himar1
            transposable element, in conjunction with the hyperactive mutant
            transposase C9, may be suitable vectors for gene therapy
            applications.
REFERENCE   7  (bases 1 to 2076)
  AUTHORS   Cordaux,R., Udit,S., Batzer,M.A. and Feschotte,C.
  TITLE     Birth of a chimeric primate gene by capture of the transposase gene
            from a mobile element
  JOURNAL   Proc Natl Acad Sci U S A 103 (21), 8101-8106 (2006)
   PUBMED   16672366
REFERENCE   8  (bases 1 to 2076)
  AUTHORS   Lee,S.H., Oshige,M., Durant,S.T., Rasila,K.K., Williamson,E.A.,
            Ramsey,H., Kwan,L., Nickoloff,J.A. and Hromas,R.
  TITLE     The SET domain protein Metnase mediates foreign DNA integration and
            links integration to nonhomologous end-joining repair
  JOURNAL   Proc Natl Acad Sci U S A 102 (50), 18075-18080 (2005)
   PUBMED   16332963
  REMARK    GeneRIF: Metnase is a nonhomologous end-joining repair protein that
            regulates genomic integration of exogenous DNA and establishes a
            relationship among histone modification, DNA repair, and
            integration.
REFERENCE   9  (bases 1 to 2076)
  AUTHORS   Robertson,H.M. and Zumpano,K.L.
  TITLE     Molecular evolution of an ancient mariner transposon, Hsmar1, in
            the human genome
  JOURNAL   Gene 205 (1-2), 203-217 (1997)
   PUBMED   9461395
REFERENCE   10 (bases 1 to 2076)
  AUTHORS   Berry,R., Stevens,T.J., Walter,N.A., Wilcox,A.S., Rubano,T.,
            Hopkins,J.A., Weber,J., Goold,R., Soares,M.B. and Sikela,J.M.
  TITLE     Gene-based sequence-tagged-sites (STSs) as the basis for a human
            gene map
  JOURNAL   Nat Genet 10 (4), 415-423 (1995)
   PUBMED   7670491
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC023483.5 and AC034191.6.
            
            On Mar 24, 2021 this sequence version replaced NM_006515.3.
            
            Summary: This gene encodes a fusion protein that contains an
            N-terminal histone-lysine N-methyltransferase domain and a
            C-terminal mariner transposase domain. The encoded protein binds
            DNA and functions in DNA repair activities including non-homologous
            end joining and double strand break repair. The SET domain portion
            of this protein specifically methylates histone H3 lysines 4 and
            36. This gene exists as a fusion gene only in anthropoid primates,
            other organisms lack mariner transposase domain. Alternate splicing
            results in multiple transcript variants. [provided by RefSeq, Jan
            2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: AK222734.1, AF054989.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358065.5/ ENSP00000373354.3
            RefSeq Select criteria :: based on manual assertion, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-158               AC023483.5         161128-161285
            159-549             AC023483.5         170657-171047
            550-1022            AC034191.6         106837-107309
            1023-2076           AC034191.6         109760-110813
FEATURES             Location/Qualifiers
     source          1..2076
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p26.1"
     gene            1..2076
                     /gene="SETMAR"
                     /gene_synonym="Mar1; METNASE"
                     /note="SET domain and mariner transposase fusion gene"
                     /db_xref="GeneID:6419"
                     /db_xref="HGNC:HGNC:10762"
                     /db_xref="MIM:609834"
     exon            1..158
                     /gene="SETMAR"
                     /gene_synonym="Mar1; METNASE"
                     /inference="alignment:Splign:2.1.0"
     CDS             3..2057
                     /gene="SETMAR"
                     /gene_synonym="Mar1; METNASE"
                     /EC_number="2.1.1.357"
                     /note="isoform 1 is encoded by transcript variant 1;
                     histone-lysine N-methyltransferase SETMAR; SET domain and
                     mariner transposase fusion gene-containing protein; SET
                     domain and mariner transposase fusion protein"
                     /codon_start=1
                     /product="histone-lysine N-methyltransferase SETMAR
                     isoform 1"
                     /protein_id="NP_006506.3"
                     /db_xref="CCDS:CCDS2563.2"
                     /db_xref="GeneID:6419"
                     /db_xref="HGNC:HGNC:10762"
                     /db_xref="MIM:609834"
                     /translation="MFAEAAKTTRPCGMAEFKEKPEAPTEQLDVACGQENLPVGAWPP
                     GAAPAPFQYTPDHVVGPGADIDPTQITFPGCICVKTPCLPGTCSCLRHGENYDDNSCL
                     RDIGSGGKYAEPVFECNVLCRCSDHCRNRVVQKGLQFHFQVFKTHKKGWGLRTLEFIP
                     KGRFVCEYAGEVLGFSEVQRRIHLQTKSDSNYIIAIREHVYNGQVMETFVDPTYIGNI
                     GRFLNHSCEPNLLMIPVRIDSMVPKLALFAAKDIVPEEELSYDYSGRYLNLTVSEDKE
                     RLDHGKLRKPCYCGAKSCTAFLPFDSSLYCPVEKSNISCGNEKEPSMCGSAPSVFPSC
                     KRLTLETMKMMLDKKQIRAIFLFEFKMGRKAAETTRNINNAFGPGTANERTVQWWFKK
                     FCKGDESLEDEERSGRPSEVDNDQLRAIIEADPLTTTREVAEELNVNHSTVVRHLKQI
                     GKVKKLDKWVPHELTENQKNRRFEVSSSLILRNHNEPFLDRIVTCDEKWILYDNRRRS
                     AQWLDQEEAPKHFPKPILHPKKVMVTIWWSAAGLIHYSFLNPGETITSEKYAQEIDEM
                     NQKLQRLQLALVNRKGPILLHDNARPHVAQPTLQKLNELGYEVLPHPPYSPDLLPTNY
                     HVFKHLNNFLQGKRFHNQQDAENAFQEFVESQSTDFYATGINQLISRWQKCVDCNGSY
                     FD"
     exon            159..1022
                     /gene="SETMAR"
                     /gene_synonym="Mar1; METNASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..2076
                     /gene="SETMAR"
                     /gene_synonym="Mar1; METNASE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2056..2061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SETMAR"
                     /gene_synonym="Mar1; METNASE"
                     /note="hexamer: AATAAA"
     polyA_site      2076
                     /gene="SETMAR"
                     /gene_synonym="Mar1; METNASE"
                     /note="major polyA site"
ORIGIN      
        1 aaatgttcgc ggaagcggca aagacgacac ggccttgtgg gatggcggag tttaaggaga
       61 agcctgaggc cccgactgag cagctggatg tcgcgtgcgg ccaggaaaac ttgccggtgg
      121 gcgcgtggcc cccgggggcc gcgccggcgc ccttccagta cactcctgat catgtagttg
      181 gacctggagc agacattgat cccactcaaa taacctttcc cggatgcatt tgtgtcaaaa
      241 ctccctgcct ccctggcact tgctcctgtc tccgccatgg agagaactat gatgataact
      301 catgccttag agatatagga tctggaggaa agtatgcaga gcctgttttt gaatgcaatg
      361 tcctgtgccg atgcagtgac cactgcagaa acagagtggt ccagaaaggt ctacagttcc
      421 acttccaagt gttcaagacg cataaaaaag gctggggact tcgtaccttg gaatttatac
      481 cgaaaggaag gtttgtctgt gaatatgctg gtgaggtttt aggattctct gaagttcaga
      541 gaagaattca cttacaaaca aaatccgact ccaattacat tatagccatc agggaacatg
      601 tttataatgg gcaggtaatg gaaacatttg ttgaccctac ttatatagga aatattggaa
      661 gattccttaa tcattcttgt gagccaaacc ttttgatgat tcctgtccga attgactcaa
      721 tggtacctaa gttggcactt tttgcagcca aagatattgt gccagaagaa gaactctctt
      781 atgattattc aggaagatat cttaatctaa cagtcagtga agacaaagaa aggctagatc
      841 atgggaaact aaggaaacct tgttactgtg gtgccaaatc atgtactgct ttcctgcctt
      901 ttgacagttc tctgtactgc cccgtagaaa agtcgaacat cagttgtgga aatgagaagg
      961 aacccagcat gtgtggctca gccccttctg tgttcccctc ctgcaagcga ttgacccttg
     1021 agactatgaa aatgatgtta gacaaaaagc aaattcgagc aattttctta ttcgagttca
     1081 aaatgggtcg taaagcagca gaaacaactc gcaacatcaa caatgcattt ggcccaggaa
     1141 ctgctaacga acgtacagtg cagtggtggt tcaagaagtt ttgcaaagga gatgagagcc
     1201 ttgaagatga ggagcgtagt ggccggccat cagaagttga caacgaccag ttgagagcaa
     1261 tcatcgaagc tgatcccctt acaactacac gagaagttgc tgaagaactc aatgtcaacc
     1321 attctacggt cgttcgacat ttgaagcaaa ttggaaaggt gaaaaagctc gataagtggg
     1381 tgcctcatga gctgactgaa aatcaaaaaa atcgtcgttt tgaagtgtca tcttctctta
     1441 ttctacgcaa ccacaacgaa ccatttctcg atcggattgt gacgtgtgat gaaaagtgga
     1501 ttttatatga caaccggcga cgatcagctc agtggttgga tcaagaagaa gctccaaagc
     1561 acttcccaaa gccaatcttg cacccaaaaa aggtcatggt cactatttgg tggtctgctg
     1621 ctggtctgat ccactacagc tttctgaatc ccggtgaaac cattacatct gagaagtatg
     1681 ctcaggaaat cgatgagatg aaccaaaaac tgcaacgcct gcagctggca ttggtcaaca
     1741 gaaagggccc aattcttctc cacgacaatg cccgaccgca tgttgcacaa cccacacttc
     1801 aaaagttgaa tgaattgggc tatgaagttt tgcctcatcc accgtattca cctgacctct
     1861 tgccaaccaa ctaccacgtc tttaagcatc tcaacaactt tttgcaggga aaacgcttcc
     1921 acaaccagca ggatgcagaa aatgctttcc aagagttcgt cgaatcccaa agcacggatt
     1981 tttacgctac aggaataaac caacttattt ctcgttggca aaaatgtgtt gattgtaatg
     2041 gttcctattt tgattaataa aaatgcgttg agccta
//
