ID TMLH_HUMAN STANDARD; PRT; 421 AA. AC Q9NVH6; DT 28-FEB-2003 (Rel. 41, Created) DT 28-FEB-2003 (Rel. 41, Last sequence update) DT 01-MAY-2005 (Rel. 47, Last annotation update) DE Trimethyllysine dioxygenase, mitochondrial precursor (EC 1.14.11.8) DE (Epsilon-trimethyllysine 2-oxoglutarate dioxygenase) (TML-alpha- DE ketoglutarate dioxygenase) (TML hydroxylase) (TML dioxygenase) (TMLD). GN Name=TMLHE; Synonyms=TMLH; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE. RX MEDLINE=21423953; PubMed=11431483; DOI=10.1074/jbc.M105929200; RA Vaz F.M., Ofman R., Westinga K., Back J.W., Wanders R.J.A.; RT "Molecular and biochemical characterization of rat epsilon-N- RT trimethyllysine hydroxylase, the first enzyme of carnitine RT biosynthesis."; RL J. Biol. Chem. 276:33512-33517(2001). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. 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.-I., Saito K., Kawai Y., Isono Y., Nakamura Y., RA Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., RA Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., RA Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., RA Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., RA Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., RA Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., RA Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., RA Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., RA Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., RA Imose N., 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). CC -!- FUNCTION: Converts trimethyllysine (TML) into CC hydroxytrimethyllysine (HTML). CC -!- CATALYTIC ACTIVITY: N(6),N(6),N(6)-trimethyl-L-lysine + 2- CC oxoglutarate + O(2) = 3-hydroxy-N(6),N(6),N(6)-trimethyl-L-lysine CC + succinate + CO(2). CC -!- COFACTOR: Iron and ascorbate. CC -!- PATHWAY: Carnitine biosynthesis; first step. CC -!- SUBUNIT: Homodimer (By similarity). CC -!- SUBCELLULAR LOCATION: Mitochondrial matrix (By similarity). CC -!- SIMILARITY: Belongs to the gamma-BBH/TMLD family. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF373407; AAL01871.1; -. DR EMBL; AK001589; BAA91775.1; -. DR IntAct; Q9NVH6; -. DR Ensembl; ENSG00000185973; Homo sapiens. DR Genew; HGNC:18308; TMLHE. DR H-InvDB; HIX0017170; -. DR Reactome; Q9NVH6; -. DR InterPro; IPR004994; Gamma-BBH. DR Pfam; PF03322; Gamma-BBH; 1. KW Carnitine biosynthesis; Dioxygenase; Iron; Mitochondrion; KW Oxidoreductase; Transit peptide. FT TRANSIT 1 ? Mitochondrion (Potential). FT CHAIN ? 421 Trimethyllysine dioxygenase. SQ SEQUENCE 421 AA; 49518 MW; 4E55DF349B866B43 CRC64; MWYHRLSHLH SRLQDLLKGG VIYPALPQPN FKSLLPLAVH WHHTASKSLT CAWQQHEDHF ELKYANTVMR FDYVWLRDHC RSASCYNSKT HQRSLDTASV DLCIKPKTIR LDETTLFFTW PDGHVTKYDL NWLVKNSYEG QKQKVIQPRI LWNAEIYQQA QVPSVDCQSF LETNEGLKKF LQNFLLYGIA FVENVPPTQE HTEKLAERIS LIRETIYGRM WYFTSDFSRG DTAYTKLALD RHTDTTYFQE PCGIQVFHCL KHEGTGGRTL LVDGFYAAEQ VLQKAPEEFE LLSKVPLKHE YIEDVGECHN HMIGIGPVLN IYPWNKELYL IRYNNYDRAV INTVPYDVVH RWYTAHRTLT IELRRPENEF WVKLKPGRVL FIDNWRVLHG RECFTGYRQL CGCYLTRDDV LNTARLLGLQ A //