InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TMLHE

Summary

InnateDB Protein

IDBP-92527.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TMLHE

Protein Name

trimethyllysine hydroxylase, epsilon

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000335261

InnateDB Gene

IDBG-92525 (TMLHE)

Protein Structure

UniProt Annotation

Function

Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML).

Subcellular Localization

Mitochondrion matrix {ECO:0000269PubMed:15754339}.

Disease Associations

Epsilon-trimethyllysine hydroxylase deficiency (TMLHED) [MIM:300872]: An inborn error of carnitine biosynthesis associated with an increased risk for developing autistic behavior. Autism is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. {ECO:0000269PubMed:21865298}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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:0000269PubMed:15754339, ECO:0000269PubMed:17408883}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005506	iron ion binding
GO:0016491	oxidoreductase activity
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
GO:0031418	L-ascorbic acid binding
GO:0050353	trimethyllysine dioxygenase activity

Biological Process

GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process
GO:0045329	carnitine biosynthetic process
GO:0051354	negative regulation of oxidoreductase activity
GO:0055114	oxidation-reduction process