Details for: TMLHE

Gene ID: 55217

Symbol: TMLHE

Ensembl ID: ENSG00000185973

Description: trimethyllysine hydroxylase, epsilon

Associated with

Other Information

Genular Protein ID: 3303148111

Symbol: TMLH_HUMAN

Name: Trimethyllysine dioxygenase, mitochondrial

UniProtKB Accession Codes:

Q9NVH6 A8K6M9 B4E3R3 Q5TZB5 Q6IA90 Q8TBT0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 11 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 9 EPD 1 Ensembl 3 GO 6 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 8 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11431483

Title: Molecular and biochemical characterization of rat epsilon-N-trimethyllysine hydroxylase, the first enzyme of carnitine biosynthesis.

PubMed ID: 11431483

DOI: 10.1074/jbc.m105929200

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15754339

Title: Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.

PubMed ID: 15754339

DOI: 10.1002/jcp.20332

PubMed ID: 17408883

Title: Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.

PubMed ID: 17408883

DOI: 10.1016/j.gene.2007.02.012

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21865298

Title: Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

PubMed ID: 21865298

DOI: 10.1093/hmg/ddr363

PubMed ID: 27965989

Title: Human carnitine biosynthesis proceeds via (2S,3S)-3-hydroxy-Nepsilon-trimethyllysine.

PubMed ID: 27965989

DOI: 10.1039/c6cc08381a

PubMed ID: 28045275

Title: Evidence that trimethyllysine hydroxylase catalyzes the formation of (2S,3S)-3-hydroxy-Nepsilon-trimethyllysine.

PubMed ID: 28045275

DOI: 10.1021/acs.orglett.6b03608

PubMed ID: 23092983

Title: Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

PubMed ID: 23092983

DOI: 10.1038/tp.2012.102

Sequence Information:

  • Length: 421
  • Mass: 49518
  • Checksum: 4E55DF349B866B43
  • Sequence:
    • MWYHRLSHLH SRLQDLLKGG VIYPALPQPN FKSLLPLAVH WHHTASKSLT CAWQQHEDHF 
ELKYANTVMR FDYVWLRDHC RSASCYNSKT HQRSLDTASV DLCIKPKTIR LDETTLFFTW 
PDGHVTKYDL NWLVKNSYEG QKQKVIQPRI LWNAEIYQQA QVPSVDCQSF LETNEGLKKF 
LQNFLLYGIA FVENVPPTQE HTEKLAERIS LIRETIYGRM WYFTSDFSRG DTAYTKLALD 
RHTDTTYFQE PCGIQVFHCL KHEGTGGRTL LVDGFYAAEQ VLQKAPEEFE LLSKVPLKHE 
YIEDVGECHN HMIGIGPVLN IYPWNKELYL IRYNNYDRAV INTVPYDVVH RWYTAHRTLT 
IELRRPENEF WVKLKPGRVL FIDNWRVLHG RECFTGYRQL CGCYLTRDDV LNTARLLGLQ 
A

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.