Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Tmlhe | Rat | autistic disorder | | ISO | TMLHE (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Tmlhe | Rat | 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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| Tmlhe (Rattus rattus - black rat) |
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Variants in Tmlhe
1003 total Variants
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| 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. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| BF389672 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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| 16 | 12 | 67 | 165 | 91 | 90 | 59 | 91 | 59 | 6 | 355 | 191 | 11 | 144 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001434566 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_133387 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_197948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006255855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039098398 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039098401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063278944 | (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 | |
| JAXUCZ010000020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000049573 ⟹ ENSRNOP00000044070 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000076655 ⟹ ENSRNOP00000068322 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000076901 ⟹ ENSRNOP00000068031 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_133387 ⟹ NP_596878 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| 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_039098398 ⟹ XP_038954326 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039098401 ⟹ XP_038954329 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063278944 ⟹ XP_063135014 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001421495 | (Get FASTA) | NCBI Sequence Viewer |
| NP_596878 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006255917 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038954326 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038954329 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063135014 | (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 | ||
| ENSRNOP00000068031 | |||
| ENSRNOP00000068031.1 | |||
| ENSRNOP00000068322.1 | |||
| 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 |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000044070 ⟸ ENSRNOT00000049573 |
| Ensembl Acc Id: | ENSRNOP00000068031 ⟸ ENSRNOT00000076901 |
| Ensembl Acc Id: | ENSRNOP00000068322 ⟸ ENSRNOT00000076655 |
| 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 |
| RefSeq Acc Id: | XP_063135014 ⟸ XM_063278944 |
| - Peptide Label: | isoform X1 |
| 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 |
| BioCyc Pathway Image | PWY-6100 | BioCyc |
| Ensembl Genes | ENSRNOG00000000729 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSRNOT00000049573 | ENTREZGENE |
| ENSRNOT00000076655.3 | UniProtKB/Swiss-Prot | |
| ENSRNOT00000076901 | ENTREZGENE | |
| ENSRNOT00000076901.3 | UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 3.30.2020.30 | UniProtKB/Swiss-Prot |
| 3.60.130.10 | UniProtKB/Swiss-Prot | |
| IMAGE_CLONE | IMAGE:7109209 | IMAGE-MGC_LOAD |
| InterPro | AlphaKG_dependent_hydroxylases | UniProtKB/Swiss-Prot |
| GBBH-like_N_sf | UniProtKB/Swiss-Prot | |
| GBH-like_N | UniProtKB/Swiss-Prot | |
| TauD-like_sf | UniProtKB/Swiss-Prot | |
| TauD/TfdA-like | UniProtKB/Swiss-Prot | |
| Trimethyllysine_dOase | UniProtKB/Swiss-Prot | |
| 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 |
| TRIMETHYLLYSINE DIOXYGENASE, MITOCHONDRIAL | UniProtKB/Swiss-Prot | |
| Pfam | DUF971 | UniProtKB/Swiss-Prot |
| TauD | UniProtKB/Swiss-Prot | |
| PhenoGen | Tmlhe | PhenoGen |
| RatGTEx | ENSRNOG00000000729 | RatGTEx |
| Superfamily-SCOP | Clavaminate synthase-like | UniProtKB/Swiss-Prot |
| 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 |
|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|
| 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 |