TRM44_HUMAN
ID TRM44_HUMAN Reviewed; 757 AA.
AC Q8IYL2; Q8NA95;
DT 19-SEP-2006, integrated into UniProtKB/Swiss-Prot.
DT 19-SEP-2006, sequence version 2.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Probable tRNA (uracil-O(2)-)-methyltransferase;
DE EC=2.1.1.211;
DE AltName: Full=Methyltransferase-like protein 19;
GN Name=TRMT44; Synonyms=C4orf23, METTL19;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Testis;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Ovary;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP POSSIBLE FUNCTION.
RX PubMed=16861910; DOI=10.4161/cc.5.14.2978;
RA Knizewski L., Ginalski K.;
RT "DUF1613 is a novel family of eucaryotic AdoMet-dependent
RT methyltransferases.";
RL Cell Cycle 5:1580-1582(2006).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-78 AND SER-533, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP VARIANTS LEU-300; VAL-455 AND ALA-641.
RX PubMed=21658913; DOI=10.1016/j.eplepsyres.2011.05.010;
RA Leschziner G.D., Coffey A.J., Andrew T., Gregorio S.P., Dias-Neto E.,
RA Calafato M., Bentley D.R., Kinton L., Sander J.W., Johnson M.R.;
RT "Q8IYL2 is a candidate gene for the familial epilepsy syndrome of partial
RT epilepsy with pericentral spikes (PEPS).";
RL Epilepsy Res. 96:109-115(2011).
CC -!- FUNCTION: Probable adenosyl-L-methionine (AdoMet)-dependent tRNA
CC (uracil-O(2)-)-methyltransferase. {ECO:0000250}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=S-adenosyl-L-methionine + uridine(44) in tRNA(Ser) = 2'-O-
CC methyluridine(44) in tRNA(Ser) + H(+) + S-adenosyl-L-homocysteine;
CC Xref=Rhea:RHEA:43100, Rhea:RHEA-COMP:10339, Rhea:RHEA-COMP:10340,
CC ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789,
CC ChEBI:CHEBI:65315, ChEBI:CHEBI:74478; EC=2.1.1.211;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8IYL2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IYL2-2; Sequence=VSP_020589, VSP_020590, VSP_020591,
CC VSP_020592;
CC Name=3;
CC IsoId=Q8IYL2-3; Sequence=VSP_039538;
CC -!- SIMILARITY: Belongs to the TRM44 family. {ECO:0000305}.
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DR EMBL; AK093044; BAC04031.1; -; mRNA.
DR EMBL; AC104825; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105345; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471131; EAW82337.1; -; Genomic_DNA.
DR EMBL; BC035655; AAH35655.1; -; mRNA.
DR CCDS; CCDS3402.2; -. [Q8IYL2-1]
DR RefSeq; NP_689757.2; NM_152544.2. [Q8IYL2-1]
DR AlphaFoldDB; Q8IYL2; -.
DR BioGRID; 127475; 44.
DR IntAct; Q8IYL2; 9.
DR STRING; 9606.ENSP00000374387; -.
DR GlyGen; Q8IYL2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IYL2; -.
DR PhosphoSitePlus; Q8IYL2; -.
DR BioMuta; TRMT44; -.
DR DMDM; 115311883; -.
DR EPD; Q8IYL2; -.
DR jPOST; Q8IYL2; -.
DR MassIVE; Q8IYL2; -.
DR MaxQB; Q8IYL2; -.
DR PaxDb; Q8IYL2; -.
DR PeptideAtlas; Q8IYL2; -.
DR PRIDE; Q8IYL2; -.
DR ProteomicsDB; 71195; -. [Q8IYL2-1]
DR ProteomicsDB; 71196; -. [Q8IYL2-2]
DR ProteomicsDB; 71197; -. [Q8IYL2-3]
DR Antibodypedia; 43421; 31 antibodies from 12 providers.
DR DNASU; 152992; -.
DR Ensembl; ENST00000389737.5; ENSP00000374387.4; ENSG00000155275.19. [Q8IYL2-1]
DR Ensembl; ENST00000513449.6; ENSP00000424643.2; ENSG00000155275.19. [Q8IYL2-2]
DR GeneID; 152992; -.
DR KEGG; hsa:152992; -.
DR MANE-Select; ENST00000389737.5; ENSP00000374387.4; NM_152544.3; NP_689757.2.
DR UCSC; uc003glf.2; human. [Q8IYL2-1]
DR CTD; 152992; -.
DR DisGeNET; 152992; -.
DR GeneCards; TRMT44; -.
DR HGNC; HGNC:26653; TRMT44.
DR HPA; ENSG00000155275; Low tissue specificity.
DR MIM; 614309; gene.
DR neXtProt; NX_Q8IYL2; -.
DR PharmGKB; PA145008869; -.
DR VEuPathDB; HostDB:ENSG00000155275; -.
DR eggNOG; KOG3790; Eukaryota.
DR GeneTree; ENSGT00390000000645; -.
DR HOGENOM; CLU_021025_0_0_1; -.
DR InParanoid; Q8IYL2; -.
DR OMA; ECGGIKT; -.
DR OrthoDB; 1146281at2759; -.
DR PhylomeDB; Q8IYL2; -.
DR TreeFam; TF106127; -.
DR PathwayCommons; Q8IYL2; -.
DR Reactome; R-HSA-6782315; tRNA modification in the nucleus and cytosol.
DR SignaLink; Q8IYL2; -.
DR BioGRID-ORCS; 152992; 7 hits in 1075 CRISPR screens.
DR ChiTaRS; TRMT44; human.
DR GenomeRNAi; 152992; -.
DR Pharos; Q8IYL2; Tdark.
DR PRO; PR:Q8IYL2; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q8IYL2; protein.
DR Bgee; ENSG00000155275; Expressed in left ovary and 97 other tissues.
DR ExpressionAtlas; Q8IYL2; baseline and differential.
DR Genevisible; Q8IYL2; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0016300; F:tRNA (uracil) methyltransferase activity; IBA:GO_Central.
DR GO; GO:0052665; F:tRNA (uracil-2'-O-)-methyltransferase activity; IEA:RHEA.
DR GO; GO:0030488; P:tRNA methylation; IBA:GO_Central.
DR InterPro; IPR029063; SAM-dependent_MTases_sf.
DR InterPro; IPR011671; tRNA_uracil_MeTrfase.
DR InterPro; IPR000571; Znf_CCCH.
DR PANTHER; PTHR21210; PTHR21210; 1.
DR Pfam; PF07757; AdoMet_MTase; 1.
DR SUPFAM; SSF53335; SSF53335; 1.
DR PROSITE; PS50103; ZF_C3H1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Metal-binding; Methyltransferase;
KW Phosphoprotein; Reference proteome; S-adenosyl-L-methionine; Transferase;
KW tRNA processing; Zinc; Zinc-finger.
FT CHAIN 1..757
FT /note="Probable tRNA (uracil-O(2)-)-methyltransferase"
FT /id="PRO_0000249894"
FT ZN_FING 713..743
FT /note="C3H1-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00723"
FT REGION 55..93
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 108..138
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 78
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 533
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..392
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039538"
FT VAR_SEQ 1..241
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020589"
FT VAR_SEQ 242..254
FT /note="KEEWFISVLIFCP -> MCIKFSSVIAKKN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020590"
FT VAR_SEQ 643..652
FT /note="ESLSLAEVAN -> GKLSTILGRG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020591"
FT VAR_SEQ 653..757
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020592"
FT VARIANT 300
FT /note="M -> L (in dbSNP:rs73211375)"
FT /evidence="ECO:0000269|PubMed:21658913"
FT /id="VAR_066601"
FT VARIANT 352
FT /note="R -> G (in dbSNP:rs1880024)"
FT /id="VAR_027515"
FT VARIANT 455
FT /note="I -> V (in dbSNP:rs34873641)"
FT /evidence="ECO:0000269|PubMed:21658913"
FT /id="VAR_066602"
FT VARIANT 641
FT /note="G -> A (in dbSNP:rs150441746)"
FT /evidence="ECO:0000269|PubMed:21658913"
FT /id="VAR_066603"
SQ SEQUENCE 757 AA; 84629 MW; 71E5E4614D6718DC CRC64;
MAEVGRTGIS YPGALLPQGF WAAVEVWLER PQVANKRLCG ARLEARWSAA LPCAEARGPG
TSAGSEQKER GPGPGQGSPG GGPGPRSLSG PEQGTACCEL EEAQGQCQQE EAQREAASVP
LRDSGHPGHA EGREGDFPAA DLDSLWEDFS QSLARGNSEL LAFLTSSGAG SQPEAQRELD
VVLRTVIPKT SPHCPLTTPR REIVVQDVLN GTITFLPLEE DDEGNLKVKM SNVYQIQLSH
SKEEWFISVL IFCPERWHSD GIVYPKPTWL GEELLAKLAK WSVENKKSDF KSTLSLISIM
KYSKAYQELK EKYKEMVKVW PEVTDPEKFV YEDVAIAAYL LILWEEERAE RRLTARQSFV
DLGCGNGLLV HILSSEGHPG RGIDVRRRKI WDMYGPQTQL EEDAITPNDK TLFPDVDWLI
GNHSDELTPW IPVIAARSSY NCRFFVLPCC FFDFIGRYSR RQSKKTQYRE YLDFIKEVGF
TCGFHVDEDC LRIPSTKRVC LVGKSRTYPS SREASVDEKR TQYIKSRRGC PVSPPGWELS
PSPRWVAAGS AGHCDGQQAL DARVGCVTRA WAAEHGAGPQ AEGPWLPGFH PREKAERVRN
CAALPRDFID QVVLQVANLL LGGKQLNTRS SRNGSLKTWN GGESLSLAEV ANELDTETLR
RLKRECGGLQ TLLRNSHQVF QVVNGRVHIR DWREETLWKT KQPEAKQRLL SEACKTRLCW
FFMHHPDGCA LSTDCCPFAH GPAELRPPRT TPRKKIS
