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Tmlhe Gene Detail
Summary
  • Symbol
    Tmlhe
  • Name
    trimethyllysine hydroxylase, epsilon
  • Synonyms
    Bbox2, D430017M14Rik, TMLH
  • Feature Type
    protein coding gene
  • IDs
    MGI:2180203
    NCBI Gene: 192289
  • Gene Overview
    MyGene.info: TMLHE
Location & Maps
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  • Sequence Map
    Genome coordinates not available
  • Genetic Map
    Chromosome X, Syntenic
Homology
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  • Human Ortholog
    TMLHE, trimethyllysine hydroxylase, epsilon
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TMLHE, trimethyllysine hydroxylase, epsilon
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130
  • Links
    NCBI Gene ID: 55217
    neXtProt AC: NX_Q9NVH6

  • Chr Location
    Xq28; chrX:155489011-155612961 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human TMLHE associations

Human Disease Mouse Models
       Autism, Susceptibility to, X-Linked 6; AUTSX6   OMIM: 300872
Click on a disease name to see all genes associated with that disease.

Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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  • All Sequences
  • RefSeq
  • UniProt
  • UniGene
Representative SequencesLengthStrain/SpeciesFlank
transcript NM_138758 RefSeq | MGI Sequence Detail 2264 FVB/N  
polypeptide Q91ZE0 UniProt | EBI | MGI Sequence Detail 421 Not Applicable  
For the selected sequence
Protein
Information
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Molecular
Reagents
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  • All nucleic 17
    cDNA 16
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGI:1346032, MGI:2443676
References
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  • Summaries
    All 18
    Developmental Gene Expression 1
    Gene Ontology 5
  • Earliest
    J:76186 Vaz FM, et al., Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis. J Biol Chem. 2001 Sep 7;276(36):33512-7
  • Latest
    J:121424 Monfregola J, et al., Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants. Gene. 2007 Jun 15;395(1-2):86-97

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory