• Gene id: 55217

Gene Summary

• Gene Symbol: TMLHE   Gene   UCSC   Ensembl
• Aliases: AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130
• Gene name: trimethyllysine hydroxylase, epsilon
• 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,
• Gene location: Xq28 (155612951: 155489010)     Exons: 11     NC_000023.11
• Gene summary(Entrez): 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 prot
• OMIM: 614939

Protein Summary

• Protein general information: Q9NVH6  
  • Name: Trimethyllysine dioxygenase, mitochondrial (EC 1.14.11.8) (Epsilon trimethyllysine 2 oxoglutarate dioxygenase) (Epsilon trimethyllysine hydroxylase) (TML hydroxylase) (TML alpha ketoglutarate dioxygenase) (TML dioxygenase) (TMLD)
  • Length: 421  
  • Mass: 49518
  • Tissue specificity: All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle. {ECO
• Sequence:

  MWYHRLSHLHSRLQDLLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHFELKYANTVMRFDYVW
  LRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQPRI
  LWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISLIRETIYGRMWYFTS
  DFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHE
  YIEDVGECHNHMIGIGPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLTIELRRPENEFWVKLK
  PGRVLFIDNWRVLHGRECFTGYRQLCGCYLTRDDVLNTARLLGLQA

• Structural information:
  • Interpro: IPR038492  IPR010376  IPR042098  IPR003819  IPR012776  
  • STRING: ENSP00000335261
• Other Databases: GeneCards:  TMLHE  Malacards:  TMLHE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045329	carnitine biosynthetic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0045329	carnitine biosynthetic process	IMP	biological process
GO:0050353	trimethyllysine dioxygenase activity	IMP	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0045329	carnitine biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0050353	trimethyllysine dioxygenase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0045329	carnitine biosynthetic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0050353	trimethyllysine dioxygenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0045329	carnitine biosynthetic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0050353	trimethyllysine dioxygenase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA	molecular function
GO:0045329	carnitine biosynthetic process	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0045329	carnitine biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Autism	KEGG:H02111
Autism	KEGG:H02111
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881