MGP Database

MGP005398

Record overview

MGPD ID	MGP005398
Gene ID	55217
Species	Homo sapiens (Human)
Gene Name	trimethyllysine hydroxylase, epsilon
Gene Symbol	TMLHE
Synonyms	TMLD; TMLH; BBOX2; AUTSX6; TMLHED; XAP130;
Alternate names	trimethyllysine dioxygenase, mitochondrial; TML hydroxylase; TML-alpha-ketoglutarate dioxygenase; butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2; epsilon-trimethyllysine 2-oxoglutarate dioxygenase; epsilon-trimethyllysine hydroxylase;
Chromosome	X
Map Location	Xq28
EC Number	1.14.11.8
Summary	This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Orthologs	View orthologs and multiple alignments for TMLHE

Proteins

trimethyllysine dioxygenase, mitochondrial isoform 1 precursor

Refseq ID:	NP_060666
Protein GI:	8922625
UniProt ID:	Q9NVH6
mRNA ID:	NM_018196
Length:	421
RefSeq Status:

MWYHRLSHLHSRLQDLLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHFELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASV
DLCIKPKTIRLDETTLFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQE
HTEKLAERISLIRETIYGRMWYFTSDFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHE
YIEDVGECHNHMIGIGPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLTIELRRPENEFWVKLKPGRVLFIDNWRVLHGRECFTGYRQL
CGCYLTRDDVLNTARLLGLQA

transit_peptide: 1..15
calculated_mol_wt: 1979
peptide sequence: 
MWYHRLSHLHSRLQD

mat_peptide: 16..421
product: trimethyllysine dioxygenase, mitochondrial isoform 1
calculated_mol_wt: 47557
peptide sequence: 
LLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHFELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETT
LFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISLIRET
IYGRMWYFTSDFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHEYIEDVGECHNHMIGI
GPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLTIELRRPENEFWVKLKPGRVLFIDNWRVLHGRECFTGYRQLCGCYLTRDDVLNTAR
LLGLQA

trimethyllysine dioxygenase, mitochondrial isoform 2 precursor

Refseq ID:	NP_001171726
Protein GI:	296317249
UniProt ID:	Q9NVH6
mRNA ID:	NM_001184797
Length:	376
RefSeq Status:

`MWYHRLSHLHSRLQDLLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHFELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASV DLCIKPKTIRLDETTLFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQE HTEKLAERISLIRETIYGRMWYFTSDFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHE YIEDVGECHNHMIGIGPVLNIYPWNKELYLIRLFKEKQNTVNRQWNSSLQCDIPERILTYRHFVSGTSIEHRGSLI`

transit_peptide: 1..15
calculated_mol_wt: 1979
peptide sequence: 
MWYHRLSHLHSRLQD

mat_peptide: 16..421
product: trimethyllysine dioxygenase, mitochondrial isoform 1
calculated_mol_wt: 47557
peptide sequence: 
LLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHFELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETT
LFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISLIRET
IYGRMWYFTSDFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHEYIEDVGECHNHMIGI
GPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLTIELRRPENEFWVKLKPGRVLFIDNWRVLHGRECFTGYRQLCGCYLTRDDVLNTAR
LLGLQA

transit_peptide: 1..15
calculated_mol_wt: 1979
peptide sequence: 
MWYHRLSHLHSRLQD

mat_peptide: 16..376
product: trimethyllysine dioxygenase, mitochondrial isoform 2
calculated_mol_wt: 42088
peptide sequence: 
LLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHFELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETT
LFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISLIRET
IYGRMWYFTSDFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHEYIEDVGECHNHMIGI
GPVLNIYPWNKELYLIRLFKEKQNTVNRQWNSSLQCDIPERILTYRHFVSGTSIEHRGSLI