ID METL4_HUMAN Reviewed; 472 AA.
AC Q8N3J2; B2RNA1; Q2TAA7; Q9H5U9;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 3.
DT 03-APR-2013, entry version 82.
DE RecName: Full=Methyltransferase-like protein 4;
DE EC=2.1.1.-;
GN Name=METTL4;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D.,
RA Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S.,
RA Bloom T., Bugalter B., Butler J., Cook A., DeCaprio D., Engels R.,
RA Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T.,
RA Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E.,
RA Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H.,
RA O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS LYS-310 AND
RP LEU-468.
RC TISSUE=Brain, Lung, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 137-472, AND VARIANT
RP LEU-468.
RC TISSUE=Lung;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 228-472, AND VARIANT
RP LEU-468.
RC TISSUE=Melanoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP VARIANT PHE-42.
RX PubMed=21248752; DOI=10.1038/nature09639;
RA Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P.,
RA Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A.,
RA Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C.,
RA Jia M., Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A.,
RA Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S.,
RA Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A.,
RA Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C.,
RA Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R.,
RA Futreal P.A.;
RT "Exome sequencing identifies frequent mutation of the SWI/SNF complex
RT gene PBRM1 in renal carcinoma.";
RL Nature 469:539-542(2011).
CC -!- FUNCTION: Probable methyltransferase (By similarity).
CC -!- SIMILARITY: Belongs to the MT-A70-like family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15520.1; Type=Frameshift; Positions=343;
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DR EMBL; AP005136; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471113; EAX01698.1; -; Genomic_DNA.
DR EMBL; BC111020; AAI11021.1; -; mRNA.
DR EMBL; BC136766; AAI36767.1; -; mRNA.
DR EMBL; BC136767; AAI36768.1; -; mRNA.
DR EMBL; AK026670; BAB15520.1; ALT_FRAME; mRNA.
DR EMBL; AL834296; CAD38969.1; -; mRNA.
DR IPI; IPI00394998; -.
DR RefSeq; NP_073751.3; NM_022840.3.
DR UniGene; Hs.126888; -.
DR ProteinModelPortal; Q8N3J2; -.
DR STRING; 9606.ENSP00000320349; -.
DR PhosphoSite; Q8N3J2; -.
DR DMDM; 269849669; -.
DR PaxDb; Q8N3J2; -.
DR PRIDE; Q8N3J2; -.
DR Ensembl; ENST00000574538; ENSP00000458290; ENSG00000101574.
DR GeneID; 64863; -.
DR KEGG; hsa:64863; -.
DR UCSC; uc002klh.4; human.
DR CTD; 64863; -.
DR GeneCards; GC18M002527; -.
DR H-InvDB; HIX0014297; -.
DR HGNC; HGNC:24726; METTL4.
DR HPA; HPA040061; -.
DR neXtProt; NX_Q8N3J2; -.
DR PharmGKB; PA134916468; -.
DR eggNOG; COG4725; -.
DR HOGENOM; HOG000113569; -.
DR HOVERGEN; HBG078120; -.
DR InParanoid; Q8N3J2; -.
DR OMA; LIVSVPC; -.
DR OrthoDB; EOG49P9Z9; -.
DR PhylomeDB; Q8N3J2; -.
DR GenomeRNAi; 64863; -.
DR NextBio; 67019; -.
DR ArrayExpress; Q8N3J2; -.
DR Bgee; Q8N3J2; -.
DR CleanEx; HS_METTL4; -.
DR Genevestigator; Q8N3J2; -.
DR GermOnline; ENSG00000101574; Homo sapiens.
DR GO; GO:0008168; F:methyltransferase activity; IEA:UniProtKB-KW.
DR GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
DR GO; GO:0006139; P:nucleobase-containing compound metabolic process; IEA:InterPro.
DR InterPro; IPR002052; DNA_methylase_N6_adenine_CS.
DR InterPro; IPR007757; MT-A70-like.
DR Pfam; PF05063; MT-A70; 1.
DR PROSITE; PS51143; MT_A70; 1.
DR PROSITE; PS00092; N6_MTASE; 1.
PE 2: Evidence at transcript level;
KW Complete proteome; Methyltransferase; Polymorphism;
KW Reference proteome; Transferase.
FT CHAIN 1 472 Methyltransferase-like protein 4.
FT /FTId=PRO_0000251225.
FT VARIANT 42 42 S -> F (found in a renal cell carcinoma
FT sample; somatic mutation).
FT /FTId=VAR_064731.
FT VARIANT 163 163 L -> F (in dbSNP:rs12606220).
FT /FTId=VAR_027670.
FT VARIANT 230 230 E -> D (in dbSNP:rs34143130).
FT /FTId=VAR_056159.
FT VARIANT 310 310 Q -> K (in dbSNP:rs2677879).
FT /FTId=VAR_027671.
FT VARIANT 468 468 V -> L (in dbSNP:rs8084295).
FT /FTId=VAR_027672.
FT CONFLICT 153 153 K -> M (in Ref. 4; BAB15520).
SQ SEQUENCE 472 AA; 54041 MW; 5A5D77484AF358D7 CRC64;
MSVVHQLSAG WLLDHLSFIN KINYQLHQHH EPCCRKKEFT TSVHFESLQM DSVSSSGVCA
AFIASDSSTK PENDDGGNYE MFTRKFVFRP ELFDVTKPYI TPAVHKECQQ SNEKEDLMNG
VKKEISISII GKKRKRCVVF NQGELDAMEY HTKIRELILD GSLQLIQEGL KSGFLYPLFE
KQDKGSKPIT LPLDACSLSE LCEMAKHLPS LNEMEHQTLQ LVEEDTSVTE QDLFLRVVEN
NSSFTKVITL MGQKYLLPPK SSFLLSDISC MQPLLNYRKT FDVIVIDPPW QNKSVKRSNR
YSYLSPLQIQ QIPIPKLAAP NCLLVTWVTN RQKHLRFIKE ELYPSWSVEV VAEWHWVKIT
NSGEFVFPLD SPHKKPYEGL ILGRVQEKTA LPLRNADVNV LPIPDHKLIV SVPCTLHSHK
PPLAEVLKDY IKPDGEYLEL FARNLQPGWT SWGNEVLKFQ HVDYFIAVES GS
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