ENSG00000185973


Homo sapiens

Features
Gene ID: ENSG00000185973
  
Biological name :TMLHE
  
Synonyms : Q9NVH6 / TMLHE / trimethyllysine hydroxylase, epsilon
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q28
Gene start: 155490115
Gene end: 155669944
  
Corresponding Affymetrix probe sets: 1554206_at (Human Genome U133 Plus 2.0 Array)   218790_s_at (Human Genome U133 Plus 2.0 Array)   222744_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000335261
Ensembl peptide - ENSP00000358447
NCBI entrez gene - 55217     See in Manteia.
OMIM - 300777
RefSeq - XM_011531182
RefSeq - NM_001184797
RefSeq - NM_018196
RefSeq Peptide - NP_060666
RefSeq Peptide - NP_001171726
swissprot - Q9NVH6
Ensembl - ENSG00000185973
  
Related genetic diseases (OMIM): 300872 - {Autism, susceptibility to, X-linked 6}, 300872
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tmlheENSDARG00000077547Danio rerio
 TMLHEENSGALG00000007443Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
BBOX1 / O75936 / gamma-butyrobetaine hydroxylase 1ENSG0000012915124


Protein motifs (from Interpro)
Interpro ID Name
 IPR003819  TauD/TfdA-like domain
 IPR010376  Gamma-butyrobetaine hydroxylase-like, N-terminal
 IPR012776  Trimethyllysine dioxygenase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0045329 carnitine biosynthetic process TAS
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050353 trimethyllysine dioxygenase activity EXP
 molecular_functionGO:0051213 dioxygenase activity IEA


Pathways (from Reactome)
Pathway description
Carnitine synthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000185973 TMLHE / Q9NVH6 / trimethyllysine hydroxylase, epsilon  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr