Reviewed,
UniProtKB/Swiss-Prot Q9NVH6 (TMLH_HUMAN)
Last modified
June 16, 2009.
Version 62.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Trimethyllysine dioxygenase, mitochondrial EC=1.14.11.8 Alternative name(s): Epsilon-trimethyllysine 2-oxoglutarate dioxygenase TML-alpha-ketoglutarate dioxygenase Short name=TML dioxygenase Short name=TMLD TML hydroxylase | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 421 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML). |
| Catalytic activity | N6,N6,N(6)-trimethyl-L-lysine + 2-oxoglutarate + O2 = 3-hydroxy-N6,N6,N(6)-trimethyl-L-lysine + succinate + CO2. |
| Cofactor | Iron. Ascorbate. |
| Pathway | |
| Subunit structure | Homodimer By similarity. |
| Subcellular location | Mitochondrion matrix By similarity. |
| Sequence similarities | Belongs to the gamma-BBH/TMLD family. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9NVH6-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9NVH6-2) The sequence of this isoform differs from the canonical sequence as follows: 333-421: YNNYDRAVIN...NTARLLGLQA → LFKEKQNTVN...TSIEHRGSLI | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – ? | Mitochondrion Potential | |||||||
| Chain | ? – 421 | Trimethyllysine dioxygenase, mitochondrial | PRO_0000002795 | ||||||
Natural variations | |||||||||
| Alternative sequence | 333 – 421 | 89 | YNNYD…LGLQA → LFKEKQNTVNRQWNSSLQCD IPERILTYRHFVSGTSIEHR GSLI in isoform 2. | VSP_021579 | |||||
Experimental info | |||||||||
| Sequence conflict | 66 | 1 | N → D in CAG33546. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular and biochemical characterization of rat epsilon-N-trimethyllysine hydroxylase, the first enzyme of carnitine biosynthesis." Vaz F.M., Ofman R., Westinga K., Back J.W., Wanders R.J.A. J. Biol. Chem. 276:33512-33517(2001) [PubMed: 11431483] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [3] | "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [4] | Bechtel S., Schupp I., Duda A., Wellenreuther R., Mehrle A., Ruschke V., Poustka A., Wiemann S. Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [5] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Pancreas. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF373407 mRNA. Translation: AAL01871.1. AK001589 mRNA. Translation: BAA91775.1. CR457265 mRNA. Translation: CAG33546.1. AM393196 mRNA. Translation: CAL38074.1. BX276110 Genomic DNA. Translation: CAH71441.1. BX276110 Genomic DNA. Translation: CAH71442.1. BC025269 mRNA. Translation: AAH25269.1. | |
| IPI | IPI00301224. IPI00382858. |
| RefSeq | NP_060666.1. |
| UniGene | Hs.133321 |
3D structure databases | |
| ModBase | Search... |
Proteomic databases | |
| PRIDE | Q9NVH6. |
Genome annotation databases | |
| Ensembl | ENSG00000185973. Homo sapiens. [Contig view] |
| GeneID | 55217. |
| KEGG | hsa:55217. |
Organism-specific databases | |
| GeneCards | GC0XM154372. GC0XM154373. |
| H-InvDB | HIX0017170. |
| HGNC | HGNC:18308. TMLHE. |
| PharmGKB | PA38311. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q9NVH6. |
| HOVERGEN | Q9NVH6. |
| OMA | Q9NVH6. CLIFDNW. |
Enzyme and pathway databases | |
| Reactome | REACT_13. Metabolism of amino acids. |
Gene expression databases | |
| ArrayExpress | Q9NVH6. |
| Bgee | Q9NVH6. |
| CleanEx | HS_TMLHE. |
| GermOnline | ENSG00000185973. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR003819. Taurine_dOase. IPR012776. Trimethyllysine_dOase. [Graphical view] |
| PANTHER | PTHR10696:SF2. tMLys_dOase. 1 hit. |
| Pfam | PF02668. TauD. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR02410. carnitine_TMLD. 1 hit. |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00139. Succinic acid. DB00126. Vitamin C. |
| NextBio | 59184. |
Entry information
| Entry name | TMLH_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NVH6 Secondary accession number(s): Q5TZB5, Q6IA90, Q8TBT0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

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