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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | TMLHE (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | TMLHE (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
3. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
5. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
6. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
9. | Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis. | Vaz FM, etal., J Biol Chem 2001 Sep 7;276(36):33512-7. |
Tmlhe (Rattus norvegicus - Norway rat) |
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TMLHE (Homo sapiens - human) |
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Tmlhe (Mus musculus - house mouse) |
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Tmlhe (Chinchilla lanigera - long-tailed chinchilla) |
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TMLHE (Pan paniscus - bonobo/pygmy chimpanzee) |
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TMLHE (Canis lupus familiaris - dog) |
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Tmlhe (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TMLHE (Sus scrofa - pig) |
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TMLHE (Chlorocebus sabaeus - green monkey) |
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Tmlhe (Heterocephalus glaber - naked mole-rat) |
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Variants in Tmlhe
1092 total Variants ![]() |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
BF389672 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 34 | 52 | 41 | 14 | 41 | 4 | 7 | 59 | 35 | 34 | 11 | 4 |
Low | 9 | 5 | 5 | 4 | 4 | 15 | 7 | 4 | |||||
Below cutoff |
RefSeq Transcripts | NM_133387 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006255855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098398 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098400 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC135704 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF374406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC085923 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH474093 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000320 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000049573 ⟹ ENSRNOP00000044070 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000076655 ⟹ ENSRNOP00000068322 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000076901 ⟹ ENSRNOP00000068031 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_133387 ⟹ NP_596878 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006255855 ⟹ XP_006255917 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039098396 ⟹ XP_038954324 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098397 ⟹ XP_038954325 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098398 ⟹ XP_038954326 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098399 ⟹ XP_038954327 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098400 ⟹ XP_038954328 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098401 ⟹ XP_038954329 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_596878 | (Get FASTA) | NCBI Sequence Viewer |
XP_006255917 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954324 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954325 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954326 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954327 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954328 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954329 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH85923 | (Get FASTA) | NCBI Sequence Viewer |
AAL01252 | (Get FASTA) | NCBI Sequence Viewer | |
EDL84655 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000044070 | ||
ENSRNOP00000044070.3 | |||
ENSRNOP00000068031 | |||
ENSRNOP00000068322 | |||
GenBank Protein | Q91ZW6 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_596878 ⟸ NM_133387 |
- UniProtKB: | Q91ZW6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006255917 ⟸ XM_006255855 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q5U2P7 (UniProtKB/Swiss-Prot), Q91ZW6 (UniProtKB/Swiss-Prot), A6KR34 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000044070 ⟸ ENSRNOT00000049573 |
RefSeq Acc Id: | ENSRNOP00000068031 ⟸ ENSRNOT00000076901 |
RefSeq Acc Id: | ENSRNOP00000068322 ⟸ ENSRNOT00000076655 |
RefSeq Acc Id: | XP_038954324 ⟸ XM_039098396 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8L2QMT7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038954327 ⟸ XM_039098399 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8L2QMT7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038954325 ⟸ XM_039098397 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8L2QMT7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038954328 ⟸ XM_039098400 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038954326 ⟸ XM_039098398 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8L2QMT7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038954329 ⟸ XM_039098401 |
- Peptide Label: | isoform X3 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q91ZW6-F1-model_v2 | AlphaFold | Q91ZW6 | 1-421 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13701267 | ||||||||
Promoter ID: | EPDNEW_R11786 | ||||||||
Type: | initiation region | ||||||||
Name: | Tmlhe_1 | ||||||||
Description: | trimethyllysine hydroxylase, epsilon | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:620629 | AgrOrtholog |
BioCyc Gene | G2FUF-5098 | BioCyc |
BioCyc Pathway | PWY-6100 [L-carnitine biosynthesis] | BioCyc |
Ensembl Genes | ENSRNOG00000000729 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000049573 | ENTREZGENE |
ENSRNOT00000049573.5 | UniProtKB/TrEMBL | |
ENSRNOT00000076655 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSRNOT00000076901 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.30.2020.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.60.130.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:7109209 | IMAGE-MGC_LOAD |
InterPro | GBBH-like_N | UniProtKB/TrEMBL |
GBBH-like_N_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GBH-like_N | UniProtKB/Swiss-Prot | |
TauD-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TauD/TfdA-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Trimethyllysine_dOase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:170898 | UniProtKB/Swiss-Prot |
MGC_CLONE | MGC:94841 | IMAGE-MGC_LOAD |
NCBI Gene | 170898 | ENTREZGENE |
PANTHER | GAMMA-BUTYROBETAINE HYDROXYLASE-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TRIMETHYLLYSINE DIOXYGENASE, MITOCHONDRIAL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DUF971 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TauD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Tmlhe | PhenoGen |
RatGTEx | ENSRNOG00000000729 | RatGTEx |
Superfamily-SCOP | Clavaminate synthase-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A8L2QMT7 | ENTREZGENE, UniProtKB/TrEMBL |
A6KR34 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5U2P7 | ENTREZGENE | |
Q91ZW6 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | Q5U2P7 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2004-02-26 | Tmlhe | trimethyllysine hydroxylase, epsilon | Symbol and Name status set to approved | 625702 | APPROVED | ||
2003-04-28 | Tmlhe | trimethyllysine hydroxylase, epsilon | Tmlh | epsilon-trimethyllysine hydroxylase | Symbol and Name updated to reflect Human and Mouse nomenclature | 629477 | PROVISIONAL |
2002-08-07 | Tmlh | epsilon-trimethyllysine hydroxylase | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_expression | expressed in liver and kidney | 70558 |
gene_function | catalyzes the formation of beta-hydroxy-N-epsilon-trimethyl-lysine from epsilon-N-trimethyllysine | 70558 |
gene_process | functions in L-carnitine biosynthetic pathway | 70558 |
gene_product | 47.5kDa protein | 70558 |