GediPNet logo

TMLHE (trimethyllysine hydroxylase, epsilon)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55217
Gene nameGene Name - the full gene name approved by the HGNC.
Trimethyllysine hydroxylase, epsilon
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TMLHE
SynonymsGene synonyms aliases
AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130
ChromosomeChromosome number
X
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs781889971 G>A Uncertain-significance, risk-factor Stop gained, coding sequence variant, non coding transcript variant
rs782624357 AT>- Pathogenic Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs782785654 G>A Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs782792356 T>C Pathogenic Splice acceptor variant
rs869320708 C>G Risk-factor Missense variant, non coding transcript variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT723259 hsa-miR-548ac HITS-CLIP 19536157
MIRT723258 hsa-miR-548bb-3p HITS-CLIP 19536157
MIRT723257 hsa-miR-548d-3p HITS-CLIP 19536157
MIRT723256 hsa-miR-548h-3p HITS-CLIP 19536157
MIRT723255 hsa-miR-548z HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005506 Function Iron ion binding IEA
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA
GO:0005759 Component Mitochondrial matrix TAS
GO:0045329 Process Carnitine biosynthetic process IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9NVH6
Protein 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)
Protein function Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML) (PubMed:11431483, PubMed:23092983).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06155 GBBH-like_N
40 134
Gamma-butyrobetaine hydroxylase-like, N-terminal
Domain
PF02668 TauD
151 404
Taurine catabolism dioxygenase TauD, TfdA family
Domain
Sequence
Sequence length 421
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Lysine degradation
Metabolic pathways
  Carnitine synthesis
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Autism, x-linked AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 rs1569118853, rs121917893, rs28934906, rs61751362, rs28934908, rs28935468, rs387906727, rs267608327, rs61752992, rs61749741, rs61749743, rs61751444, rs878854360, rs879255587, rs878854361, rs756651509, rs1060499778, rs1555912102 21865298, 25943046, 23092983
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Developmental regression Developmental regression rs1224421127

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412