TMLHE (trimethyllysine hydroxylase, epsilon)

2014-08-01  

Identity

HGNC
TMLHE
LOCATION
Xq28
LOCUSID
55217
ALIAS
AUTSX6,BBOX2,TMLD,TMLH,TMLHED,XAP130
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55217
MIM: 300777
HGNC: 18308
Ensembl: ENSG00000185973

Variants:

dbSNP: 55217
ClinVar: 55217
TCGA: ENSG00000185973
COSMIC: TMLHE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185973ENST00000334398Q9NVH6
ENSG00000185973ENST00000369439Q9NVH6

Expression (GTEx)

0
1
2
3
4
5
6
7
8
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895
Carnitine synthesisREACTOMER-HSA-71262

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
308988472019Investigating the active site of human trimethyllysine hydroxylase.3
308988472019Investigating the active site of human trimethyllysine hydroxylase.3
284926962017Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis.3
284926962017Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis.3
225666352012A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.65
230929832012Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.46
225666352012A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.65
230929832012Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.46
218652982011Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.58
218652982011Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.58
174088832007Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.3
174088832007Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.3
157543392005Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.5
157543392005Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.5

Citation

Dessen P

TMLHE (trimethyllysine hydroxylase, epsilon)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54716