TMLHE

GENERAL INFORMATION

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Gene name

TMLHE

Gene description

Trimethyllysine hydroxylase, epsilon

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA034589
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

TMLHE (HGNC Symbol)

Synonyms

BBOX2, FLJ10727, TMLH, XAP130

Description

Trimethyllysine hydroxylase, epsilon (HGNC Symbol)

Entrez gene summary

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 protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Chromosome

X

Cytoband

q28

Chromosome location (bp)

155490115 - 155669944

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000185973 (version 78.38)

Entrez gene

55217

UniProt

Q9NVH6 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NVH6

Antibodypedia

TMLHE antibodies


PROTEIN BROWSER

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ENST00000334398
 
ENST00000369439
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TMLHE-001 ENSP00000335261
ENST00000334398
Q9NVH6
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Show » Show » 421 49.5 No 0
TMLHE-002 ENSP00000358447
ENST00000369439
Q9NVH6
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Show » Show » 376 44 No 0