TRM9B_HUMAN
ID TRM9B_HUMAN Reviewed; 454 AA.
AC Q9P272; K7EM26; Q8N9K7; Q96AW6;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 3.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Probable tRNA methyltransferase 9B {ECO:0000305};
DE AltName: Full=Probable tRNA methyltransferase 9-like protein {ECO:0000303|PubMed:23381944};
DE EC=2.1.1.-;
GN Name=TRMT9B {ECO:0000312|HGNC:HGNC:26725};
GN Synonyms=C8orf79, KIAA1456, TRM9L {ECO:0000303|PubMed:23381944};
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 GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Cerebellum;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 51-454 (ISOFORM 1), AND VARIANTS
RP ARG-150; GLY-207; GLU-304 AND GLY-451.
RX PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:143-150(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 53-454 (ISOFORM 1), AND VARIANTS
RP ARG-150; GLY-207; GLU-304 AND GLY-451.
RC TISSUE=Eye;
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 FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=23381944; DOI=10.1002/emmm.201201161;
RA Begley U., Sosa M.S., Avivar-Valderas A., Patil A., Endres L., Estrada Y.,
RA Chan C.T., Su D., Dedon P.C., Aguirre-Ghiso J.A., Begley T.;
RT "A human tRNA methyltransferase 9-like protein prevents tumour growth by
RT regulating LIN9 and HIF1-alpha.";
RL EMBO Mol. Med. 5:366-383(2013).
RN [6]
RP VARIANT PHE-93.
RX PubMed=23647072; DOI=10.1111/epi.12201;
RA Veeramah K.R., Johnstone L., Karafet T.M., Wolf D., Sprissler R.,
RA Salogiannis J., Barth-Maron A., Greenberg M.E., Stuhlmann T., Weinert S.,
RA Jentsch T.J., Pazzi M., Restifo L.L., Talwar D., Erickson R.P.,
RA Hammer M.F.;
RT "Exome sequencing reveals new causal mutations in children with epileptic
RT encephalopathies.";
RL Epilepsia 54:1270-1281(2013).
CC -!- FUNCTION: May modifie wobble uridines in specific arginine and glutamic
CC acid tRNAs. Acts as a tumor suppressor by promoting the expression of
CC LIN9. {ECO:0000269|PubMed:23381944}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9P272-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9P272-3; Sequence=VSP_059378, VSP_059379;
CC -!- TISSUE SPECIFICITY: Down-regulated in breast, bladder, colorectal,
CC cervix and testicular carcinomas. {ECO:0000269|PubMed:23381944}.
CC -!- SIMILARITY: Belongs to the methyltransferase superfamily.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04326.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
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DR EMBL; AC135352; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB040889; BAA95980.1; -; mRNA.
DR EMBL; BC035082; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK094299; BAC04326.1; ALT_SEQ; mRNA.
DR EMBL; BC016633; AAH16633.2; -; mRNA.
DR CCDS; CCDS47808.1; -. [Q9P272-1]
DR RefSeq; NP_065895.2; NM_020844.2. [Q9P272-1]
DR RefSeq; XP_005273643.1; XM_005273586.4. [Q9P272-1]
DR RefSeq; XP_016869194.1; XM_017013705.1. [Q9P272-1]
DR RefSeq; XP_016869195.1; XM_017013706.1. [Q9P272-1]
DR RefSeq; XP_016869196.1; XM_017013707.1.
DR AlphaFoldDB; Q9P272; -.
DR BioGRID; 121652; 7.
DR IntAct; Q9P272; 2.
DR STRING; 9606.ENSP00000432695; -.
DR iPTMnet; Q9P272; -.
DR PhosphoSitePlus; Q9P272; -.
DR BioMuta; KIAA1456; -.
DR DMDM; 269849677; -.
DR MassIVE; Q9P272; -.
DR PaxDb; Q9P272; -.
DR PeptideAtlas; Q9P272; -.
DR PRIDE; Q9P272; -.
DR ProteomicsDB; 83741; -. [Q9P272-1]
DR Antibodypedia; 58596; 59 antibodies from 16 providers.
DR DNASU; 57604; -.
DR Ensembl; ENST00000400069.7; ENSP00000468715.1; ENSG00000250305.9. [Q9P272-3]
DR Ensembl; ENST00000524591.7; ENSP00000432695.1; ENSG00000250305.9. [Q9P272-1]
DR Ensembl; ENST00000528753.2; ENSP00000466330.1; ENSG00000250305.9. [Q9P272-3]
DR GeneID; 57604; -.
DR KEGG; hsa:57604; -.
DR MANE-Select; ENST00000524591.7; ENSP00000432695.1; NM_020844.3; NP_065895.2.
DR UCSC; uc010lsq.4; human. [Q9P272-1]
DR UCSC; uc064kkg.1; human.
DR CTD; 57604; -.
DR DisGeNET; 57604; -.
DR GeneCards; TRMT9B; -.
DR HGNC; HGNC:26725; TRMT9B.
DR HPA; ENSG00000250305; Group enriched (brain, choroid plexus).
DR MIM; 615666; gene.
DR neXtProt; NX_Q9P272; -.
DR OpenTargets; ENSG00000250305; -.
DR PharmGKB; PA143485343; -.
DR VEuPathDB; HostDB:ENSG00000250305; -.
DR eggNOG; KOG1331; Eukaryota.
DR GeneTree; ENSGT00940000160373; -.
DR HOGENOM; CLU_029501_0_1_1; -.
DR InParanoid; Q9P272; -.
DR OMA; HGNWCIV; -.
DR OrthoDB; 996085at2759; -.
DR PhylomeDB; Q9P272; -.
DR PathwayCommons; Q9P272; -.
DR Reactome; R-HSA-6782315; tRNA modification in the nucleus and cytosol.
DR SignaLink; Q9P272; -.
DR BioGRID-ORCS; 57604; 13 hits in 1063 CRISPR screens.
DR GenomeRNAi; 57604; -.
DR Pharos; Q9P272; Tbio.
DR PRO; PR:Q9P272; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9P272; protein.
DR Bgee; ENSG00000250305; Expressed in cerebellar vermis and 151 other tissues.
DR ExpressionAtlas; Q9P272; baseline and differential.
DR Genevisible; Q9P272; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0016300; F:tRNA (uracil) methyltransferase activity; IEA:InterPro.
DR GO; GO:0000049; F:tRNA binding; IBA:GO_Central.
DR GO; GO:0008175; F:tRNA methyltransferase activity; EXP:Reactome.
DR GO; GO:0006400; P:tRNA modification; TAS:Reactome.
DR GO; GO:0002098; P:tRNA wobble uridine modification; IBA:GO_Central.
DR Gene3D; 3.40.50.150; -; 2.
DR InterPro; IPR013216; Methyltransf_11.
DR InterPro; IPR029063; SAM-dependent_MTases_sf.
DR InterPro; IPR032873; Trm9.
DR PANTHER; PTHR13069:SF21; PTHR13069:SF21; 1.
DR Pfam; PF08241; Methyltransf_11; 1.
DR SUPFAM; SSF53335; SSF53335; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Methyltransferase; Phosphoprotein;
KW Reference proteome; S-adenosyl-L-methionine; Transferase; tRNA processing.
FT CHAIN 1..454
FT /note="Probable tRNA methyltransferase 9B"
FT /id="PRO_0000328792"
FT MOD_RES 214
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80WQ4"
FT VAR_SEQ 53..60
FT /note="CGTGKYLK -> NQAASSLT (in isoform 2)"
FT /id="VSP_059378"
FT VAR_SEQ 61..454
FT /note="Missing (in isoform 2)"
FT /id="VSP_059379"
FT VARIANT 93
FT /note="L -> F (found in a child with sporadic epilepsy;
FT unknown pathological significance; dbSNP:rs757023992)"
FT /evidence="ECO:0000269|PubMed:23647072"
FT /id="VAR_077832"
FT VARIANT 150
FT /note="H -> R (in dbSNP:rs528255)"
FT /evidence="ECO:0000269|PubMed:10819331,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_061378"
FT VARIANT 207
FT /note="C -> G (in dbSNP:rs3739310)"
FT /evidence="ECO:0000269|PubMed:10819331,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_061379"
FT VARIANT 219
FT /note="P -> T (in dbSNP:rs505480)"
FT /id="VAR_056243"
FT VARIANT 265
FT /note="I -> T (in dbSNP:rs3739308)"
FT /id="VAR_056244"
FT VARIANT 304
FT /note="G -> E (in dbSNP:rs502882)"
FT /evidence="ECO:0000269|PubMed:10819331,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_061380"
FT VARIANT 337
FT /note="H -> L (in dbSNP:rs34995506)"
FT /id="VAR_056245"
FT VARIANT 451
FT /note="R -> G (in dbSNP:rs608052)"
FT /evidence="ECO:0000269|PubMed:10819331,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_061381"
SQ SEQUENCE 454 AA; 51299 MW; 72074CFF852A0331 CRC64;
MDHEAAQLEK QHVHNVYEST APYFSDLQSK AWPRVRQFLQ EQKPGSLIAD IGCGTGKYLK
VNSQVHTVGC DYCGPLVEIA RNRGCEAMVC DNLNLPFRDE GFDAIISIGV IHHFSTKQRR
IRAIKEMARV LVPGGQLMIY VWAMEQKNRH FEKQDVLVPW NRALCSQLFS ESSQSGRKRQ
CGYPERGHPY HPPCSECSCS VCFKEQCGSK RSHSVGYEPA MARTCFANIS KEGEEEYGFY
STLGKSFRSW FFSRSLDEST LRKQIERVRP LKNTEVWASS TVTVQPSRHS SLDFDHQEPF
STKGQSLDEE VFVESSSGKH LEWLRAPGTL KHLNGDHQGE MRRNGGGNFL DSTNTGVNCV
DAGNIEDDNP SASKILRRIS AVDSTDFNPD DTMSVEDPQT DVLDSTAFMR YYHVFREGEL
CSLLKENVSE LRILSSGNDH GNWCIIAEKK RGCD
