TMLHE
entrez
55217
canonical
uniprot
Q9NVH6
canonical
ensembl
ENSG00000185973
resolver
ensp
ENSP00000335261
resolver
ensp
ENSP00000358447
resolver
ensp
ENSP00000763989
resolver
genesymbol
TMLHE
resolver
genesymbol_syn
TMLH
resolver
hgnc
HGNC:18308
resolver
uniprot
A8K6M9
resolver
uniprot
B4E3R3
resolver
uniprot
Q5TZB5
resolver
uniprot
Q6IA90
resolver
uniprot
Q8TBT0
resolver
uniprot_entry
TMLH_HUMAN
resolver
uniprot_sec
A8K6M9
resolver
uniprot_sec
B4E3R3
resolver
uniprot_sec
Q5TZB5
resolver
uniprot_sec
Q6IA90
resolver
uniprot_sec
Q8TBT0
resolver
amino_acid_sequence
MWYHRLSHLHSRLQDLLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHFELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISLIRETIYGRMWYFTSDFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHEYIEDVGECHNHMIGIGPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLTIELRRPENEFWVKLKPGRVLFIDNWRVLHGRECFTGYRQLCGCYLTRDDVLNTARLLGLQA
uniprot
proteins
disease_involvement
DISEASE: Autism, X-linked 6 (AUTSX6) [MIM:300872]: A form of autism, 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 intellectual disability. AUTSX6 patients may respond favorably to carnitine supplementation. {ECO:0000269|PubMed:21865298, ECO:0000269|PubMed:23092983}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.11.8
uniprot
proteins
function
FUNCTION: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML) in the carnitine biosynthesis pathway. {ECO:0000269|PubMed:11431483, ECO:0000269|PubMed:15754339, ECO:0000269|PubMed:23092983, ECO:0000269|PubMed:27965989, ECO:0000269|PubMed:28045275}.; FUNCTION: [Isoform 2]: Lacks trimethyllysine dioxygenase activity. {ECO:0000305|PubMed:17408883}.; FUNCTION: [Isoform 3]: Lacks trimethyllysine dioxygenase activity. {ECO:0000305|PubMed:17408883}.; FUNCTION: [Isoform 4]: Lacks trimethyllysine dioxygenase activity. {ECO:0000305|PubMed:17408883}.; FUNCTION: [Isoform 5]: Lacks trimethyllysine dioxygenase activity. {ECO:0000305|PubMed:17408883}.
uniprot
proteins
mass_dalton
49518
uniprot
proteins
mutagenesis
MUTAGEN 389; /note="H->L: No catalytic activity."; /evidence="ECO:0000269|PubMed:15754339
uniprot
proteins
pathway_participation
PATHWAY: Amine and polyamine biosynthesis; carnitine biosynthesis. {ECO:0000269|PubMed:11431483}.
uniprot
proteins
protein_family
Gamma-BBH/TMLD family
uniprot
proteins
pubmed
11431483
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15754339
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17408883
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21865298
uniprot
proteins
pubmed
23092983
uniprot
proteins
pubmed
27965989
uniprot
proteins
pubmed
28045275
uniprot
proteins
sequence_length
421
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:15754339}.
uniprot
proteins