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1:  Q53H47Reports  Histone-lysine N-...[gi:74740552] BLink, Conserved Domains, Links
LOCUS       Q53H47                   671 aa            linear   PRI 01-MAY-2007
DEFINITION  Histone-lysine N-methyltransferase SETMAR (SET domain and mariner
            transposase fusion gene-containing protein) (Metnase) (Hsmar1)
            [Includes: Histone-lysine N-methyltransferase; Mariner transposase
            Hsmar1].
ACCESSION   Q53H47
VERSION     Q53H47  GI:74740552
DBSOURCE    swissprot: locus SETMR_HUMAN, accession Q53H47;
            class: standard.
            extra accessions:Q13579,Q1G668,Q96F41
            created: Oct 31, 2006.
            sequence updated: May 24, 2005.
            annotation updated: May 1, 2007.
            xrefs: AY952295.1, AAY29570.1, AK222734.1, BAD96454.1, BC011635.2,
            AAH11635.1, DQ341316.1, ABC72087.1, U52077.1, AAC52010.1
            xrefs (non-sequence databases): UniGene:Hs.475300,
            Ensembl:ENSG00000170364, HGNC:10762, MIM: 609834,
            ArrayExpress:Q53H47, GermOnline:ENSG00000170364,
            RZPD-ProtExp:IOH14421, RZPD-ProtExp:M0362, GO:0004803, GO:0006313,
            InterPro:IPR009057, InterPro:IPR003616, InterPro:IPR007728,
            InterPro:IPR003606, InterPro:IPR001214, InterPro:IPR001888,
            Gene3D:G3DSA:2.170.270.10, PANTHER:PTHR23016, Pfam:PF05033,
            Pfam:PF00856, Pfam:PF01359, SMART:SM00508, SMART:SM00468,
            SMART:SM00317, PROSITE:PS50868, PROSITE:PS50867, PROSITE:PS50280
KEYWORDS    Alternative splicing; Chromatin regulator; Coiled coil; DNA damage;
            DNA repair; DNA-binding; Methyltransferase; Nuclear protein;
            Transferase.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 671)
  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    NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE
            SPECIFICITY, AND MUTAGENESIS OF ASN-210; ASP-248 AND ASP-490.
REFERENCE   2  (residues 1 to 671)
  AUTHORS   Suzuki,Y., Sugano,S., Totoki,Y., Toyoda,A., Takeda,T., Sakaki,Y.,
            Tanaka,A. and Yokoyama,S.
  TITLE     Direct Submission
  JOURNAL   Submitted (??-APR-2005)
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
            TISSUE=Dermoid cancer
REFERENCE   3  (residues 1 to 671)
  AUTHORS   Gerhard,D.S., Wagner,L., Feingold,E.A., Shenmen,C.M., Grouse,L.H.,
            Schuler,G., Klein,S.L., Old,S., Rasooly,R., Good,P., Guyer,M.,
            Peck,A.M., Derge,J.G., Lipman,D., Collins,F.S., Jang,W., Sherry,S.,
            Feolo,M., Misquitta,L., Lee,E., Rotmistrovsky,K., Greenhut,S.F.,
            Schaefer,C.F., Buetow,K., Bonner,T.I., Haussler,D., Kent,J.,
            Kiekhaus,M., Furey,T., Brent,M., Prange,C., Schreiber,K.,
            Shapiro,N., Bhat,N.K., Hopkins,R.F., Hsie,F., Driscoll,T.,
            Soares,M.B., Casavant,T.L., Scheetz,T.E., Brown-stein,M.J.,
            Usdin,T.B., Toshiyuki,S., Carninci,P., Piao,Y., Dudekula,D.B.,
            Ko,M.S., Kawakami,K., Suzuki,Y., Sugano,S., Gruber,C.E.,
            Smith,M.R., Simmons,B., Moore,T., Waterman,R., Johnson,S.L.,
            Ruan,Y., Wei,C.L., Mathavan,S., Gunaratne,P.H., Wu,J., Garcia,A.M.,
            Hulyk,S.W., Fuh,E., Yuan,Y., Sneed,A., Kowis,C., Hodgson,A.,
            Muzny,D.M., McPherson,J., Gibbs,R.A., Fahey,J., Helton,E.,
            Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M.,
            Madari,A., Young,A.C., Wetherby,K.D., Granite,S.J., Kwong,P.N.,
            Brinkley,C.P., Pearson,R.L., Bouffard,G.G., Blakesly,R.W.,
            Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J.,
            Myers,R.M., Butterfield,Y.S., Griffith,M., Griffith,O.L.,
            Krzywinski,M.I., Liao,N., Morin,R., Palmquist,D., Petrescu,A.S.,
            Skalska,U., Smailus,D.E., Stott,J.M., Schnerch,A., Schein,J.E.,
            Jones,S.J., Holt,R.A., Baross,A., Marra,M.A., Clifton,S.,
            Makowski,K.A., Bosak,S. and Malek,J.
  CONSRTM   MGC Project Team
  TITLE     The status, quality, and expansion of the NIH full-length cDNA
            project: the Mammalian Gene Collection (MGC)
  JOURNAL   Genome Res. 14 (10B), 2121-2127 (2004)
   PUBMED   15489334
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
            TISSUE=Uterus
            Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to
            Morin, Ryan]]
REFERENCE   4  (residues 1 to 671)
  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
  REMARK    NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 328-671, FUNCTION, AND
            DNA-BINDING.
REFERENCE   5  (residues 1 to 671)
  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
  REMARK    NUCLEOTIDE SEQUENCE [GENOMIC DNA].
COMMENT     On or before Dec 1, 2006 this sequence version replaced
            gi:74754467, gi:74731653.
            [FUNCTION] Histone methyltransferase that methylates 'Lys-4' and
            'Lys-36' of histone H3, 2 specific tags for epigenetic
            transcriptional activation. Specifically mediates dimethylation of
            H3 'Lys-36'. Binds DNA. May play a role in non-homologous
            end-joining repair.
            [CATALYTIC ACTIVITY] S-adenosyl-L-methionine + histone L-lysine =
            S-adenosyl-L-homocysteine + histone 6-N-methyl-L-lysine.
            [SUBCELLULAR LOCATION] Nucleus (Probable).
            [ALTERNATIVE PRODUCTS] Event=Alternative splicing; Named
            isoforms=2; Name=1; IsoId=Q53H47-1; Sequence=Displayed; Name=2;
            IsoId=Q53H47-2; Sequence=VSP_021440, VSP_021441; Note=No
            experimental confirmation available.
            [TISSUE SPECIFICITY] Widely expressed, with highest expression in
            placenta and ovary and lowest expression in skeletal muscle.
            [DOMAIN] The mariner transposase Hsmar1 region mediates
            DNA-binding. It has no transposase activity because the active site
            contains an Asn in position 610 instead of a Asp residue.
            [MISCELLANEOUS] The mariner transposase region in only present in
            primates and appeared 40-58 million years ago, after the insertion
            of a transposon downstream of a preexisting SET gene, followed by
            the de novo exonization of previously non-coding sequence and the
            creation of a new intron.
            [SIMILARITY] In the N-terminal section; belongs to the
            histone-lysine methyltransferase family.
            [SIMILARITY] In the C-terminal section; belongs to the mariner
            transposase family.
            [SIMILARITY] Contains 1 post-SET domain.
            [SIMILARITY] Contains 1 pre-SET domain.
            [SIMILARITY] Contains 1 SET domain.
FEATURES             Location/Qualifiers
     source          1..671
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
     gene            1..671
                     /gene="SETMAR"
     Protein         1..671
                     /gene="SETMAR"
                     /product="Histone-lysine N-methyltransferase SETMAR"
                     /EC_number="2.1.1.43"
     Region          1..671
                     /gene="SETMAR"
                     /region_name="Mature chain"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Histone-lysine N-methyltransferase SETMAR.
                     /FTId=PRO_0000259526."
     Region          1..332
                     /gene="SETMAR"
                     /region_name="Region of interest in the sequence"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Histone-lysine N-methyltransferase."
     Region          14..110
                     /gene="SETMAR"
                     /region_name="PreSET"
                     /note="N-terminal to some SET domains; A Cys-rich putative
                     Zn2+-binding domain that occurs N-terminal to some SET
                     domains. Function is unknown. Unpublished; smart00468"
                     /db_xref="CDD:47774"
     Region          60..123
                     /gene="SETMAR"
                     /region_name="Domain"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Pre-SET."
     Region          125..254
                     /gene="SETMAR"
                     /region_name="Domain"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="SET."
     Region          126..255
                     /gene="SETMAR"
                     /region_name="SET"
                     /note="SET (Su(var)3-9, Enhancer-of-zeste, Trithorax)
                     domain; Putative methyl transferase, based on outlier
                     plant homologues; smart00317"
                     /db_xref="CDD:47645"
     Site            210
                     /gene="SETMAR"
                     /site_type="mutagenized"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N->S: Reduces activity in double strand break
                     repair."
     Site            248
                     /gene="SETMAR"
                     /site_type="mutagenized"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="D->S: Reduces activity in double strand break
                     repair."
     Region          270..286
                     /gene="SETMAR"
                     /region_name="Domain"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Post-SET."
     Region          328..352
                     /gene="SETMAR"
                     /region_name="Splicing variant"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="TMKMMLDKKQIRAIFLFEFKMGRKA -> VSLFSDKQLAPP
                     YSGRQWLASFTSA (in isoform 2). /FTId=VSP_021440."
     Region          330
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="K -> E (in Ref. 5; AAC52010)."
     Region          333..671
                     /gene="SETMAR"
                     /region_name="Region of interest in the sequence"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Mariner transposase Hsmar1."
     Region          353..671
                     /gene="SETMAR"
                     /region_name="Splicing variant"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Missing (in isoform 2). /FTId=VSP_021441."
     Region          426
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N -> D (in Ref. 5; AAC52010)."
     Region          452
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="T -> S (in Ref. 5; AAC52010)."
     Region          471
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="H -> N (in Ref. 5; AAC52010)."
     Region          488..568
                     /gene="SETMAR"
                     /region_name="Transposase_1"
                     /note="Transposase. This family includes the mariner
                     transposase; pfam01359"
                     /db_xref="CDD:65177"
     Site            490
                     /gene="SETMAR"
                     /site_type="mutagenized"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="D->S: Reduces activity in double strand break
                     repair."
     Region          495
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="S -> P (in Ref. 5; AAC52010)."
     Region          501
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Q -> R (in Ref. 5; AAC52010)."
     Region          512
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="I -> N (in Ref. 5; AAC52010)."
     Region          515
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="P -> Q (in Ref. 5; AAC52010)."
     Region          522
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="I -> V (in Ref. 5; AAC52010)."
     Region          539..569
                     /gene="SETMAR"
                     /region_name="Coiled-coil region"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="Potential."
     Region          549
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="E -> Q (in Ref. 5; AAC52010)."
     Region          554..555
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="NQ -> HR (in Ref. 5; AAC52010)."
     Region          562
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="L -> P (in Ref. 5; AAC52010)."
     Region          607
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="L -> S (in Ref. 5; AAC52010)."
     Region          610
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N -> D (in Ref. 5; AAC52010)."
     Region          613
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="V -> F (in Ref. 5; AAC52010)."
     Region          618
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N -> D (in Ref. 5; AAC52010)."
     Region          643
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Q -> R (in Ref. 5; AAC52010)."
     Region          654
                     /gene="SETMAR"
                     /region_name="Conflict"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Q -> K (in Ref. 5; AAC52010)."
ORIGIN      
        1 maefkekpea pteqldvacg qenlpvgawp pgaapapfqy tpdhvvgpga didptqitfp
       61 gcicvktpcl pgtcsclrhg enyddnsclr digsggkyae pvfecnvlcr csdhcrnrvv
      121 qkglqfhfqv fkthkkgwgl rtlefipkgr fvceyagevl gfsevqrrih lqtksdsnyi
      181 iairehvyng qvmetfvdpt yignigrfln hscepnllmi pvridsmvpk lalfaakdiv
      241 peeelsydys grylnltvse dkerldhgkl rkpcycgaks ctaflpfdss lycpveksni
      301 scgnekepsm cgsapsvfps ckrltletmk mmldkkqira iflfefkmgr kaaettrnin
      361 nafgpgtane rtvqwwfkkf ckgdeslede ersgrpsevd ndqlraiiea dpltttreva
      421 eelnvnhstv vrhlkqigkv kkldkwvphe ltenqknrrf evssslilrn hnepfldriv
      481 tcdekwilyd nrrrsaqwld qeeapkhfpk pilhpkkvmv tiwwsaagli hysflnpget
      541 itsekyaqei demnqklqrl qlalvnrkgp illhdnarph vaqptlqkln elgyevlphp
      601 pyspdllptn yhvfkhlnnf lqgkrfhnqq daenafqefv esqstdfyat ginqlisrwq
      661 kcvdcngsyf d
//

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