Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | TMLHE | contributors: mct - updated : 19-05-2016 |
HGNC name | trimethyllysine hydroxylase, epsilon |
HGNC id | 18308 |
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Corresponding disease |
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Location | Xq28 Physical location : 154.718.674 - 154.842.622 | ||
Synonym name | |||
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Synonym symbol(s) | TMLH, BBOX2, XAP130, FLJ10727, TMLD | ||
EC.number | 1.14.11.8 |
DNA |
TYPE | functioning gene |
STRUCTURE | 123.95 kb 8 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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regulatory sequence | Binding site transcription factor |
text structure | |
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MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
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text |
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EXPRESSION |
Type | widely |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cells |
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cell lineage
cell lines
| fluid/secretion
| highly in blood, moderately in lymph | |
at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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mono polymer | homomer , dimer |
HOMOLOGY |
interspecies | ortholog to rattus Tmlhe (87.2pc) |
ortholog to murine Tmlhe (94.4pc) |
Homologene |
FAMILY | GAMMA-BBH/TMLD family |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria,matrix | |
text |
basic FUNCTION | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | electron transport |
PATHWAY |
metabolism | aminoacid |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule | cofactor, |
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protein |
cell & other |
REGULATION |
Other | tight transcriptional and post-transcriptional control of TMLHE expression |
ASSOCIATED DISORDERS |
corresponding disease(s) | AUTSX6 |
Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |