InnateDB Protein
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IDBP-92527.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TMLHE
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Protein Name
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trimethyllysine hydroxylase, epsilon
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000335261
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InnateDB Gene
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IDBG-92525 (TMLHE)
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Protein Structure
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Function |
Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML).
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Subcellular Localization |
Mitochondrion matrix {ECO:0000269PubMed:15754339}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005506
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iron ion binding
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GO:0016491
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oxidoreductase activity
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GO:0016702
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oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
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GO:0031418
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L-ascorbic acid binding
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GO:0050353
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trimethyllysine dioxygenase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003819
Taurine catabolism dioxygenase TauD/TfdA
IPR010376
Domain of unknown function, DUF971
IPR012776
Trimethyllysine dioxygenase
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PFAM |
PF02668
PF06155
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NVH6
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PhosphoSite |
PhosphoSite-Q9NVH6
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
55217
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UniGene |
Hs.133321
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RefSeq |
NP_060666
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HUGO |
HGNC:18308
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OMIM |
300777
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CCDS |
CCDS14768
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HPRD |
06743
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IMGT |
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EMBL |
AF373407
AK001589
AK291694
AK304830
AK310667
AM393196
BC025269
BX276110
CR457265
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GenPept |
AAH25269
AAL01871
BAA91775
BAF84383
BAG65575
CAG33546
CAH71441
CAH71442
CAL38074
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