TMLHE

From Wikipedia, the free encyclopedia

Trimethyllysine hydroxylase, epsilon

Identifiers

TMLHE; BBOX2; FLJ10727; TMLH; XAP130

External IDs

Gene ontology
Molecular Function:	• iron ion binding • oxidoreductase activity • oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen • L-ascorbic acid binding • trimethyllysine dioxygenase activity
Cellular Component:	• mitochondrion
Biological Process:	• electron transport • carnitine biosynthetic process

Orthologs

Human

Mouse

Entrez

55217

n/a

Refseq

NM_018196 (mRNA)
NP_060666 (protein)

n/a (mRNA)
n/a (protein)

Pubmed search

[1]

n/a

Trimethyllysine hydroxylase, epsilon, also known as TMLHE, is a human gene.^[1]

[edit] References

^ Entrez Gene: TMLHE trimethyllysine hydroxylase, epsilon.

[edit] Further reading

Rogner UC, Heiss NS, Kioschis P, et al. (1997). "Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28.". Genome Res. 6 (10): 922–34. PMID 8908511.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. PMID 11076863.
Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMID 11256614.
Vaz FM, Ofman R, Westinga K, et al. (2001). "Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis.". J. Biol. Chem. 276 (36): 33512–7. doi:10.1074/jbc.M105929200. PMID 11431483.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMID 15489336.
Monfregola J, Cevenini A, Terracciano A, et al. (2005). "Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.". J. Cell. Physiol. 204 (3): 839–47. doi:10.1002/jcp.20332. PMID 15754339.
Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMID 15772651.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMID 16381901.
Monfregola J, Napolitano G, Conte I, et al. (2007). "Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.". Gene 395 (1-2): 86–97. doi:10.1016/j.gene.2007.02.012. PMID 17408883.