Tmlhe (trimethyllysine hydroxylase, epsilon) - Rat Genome Database

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Gene: Tmlhe (trimethyllysine hydroxylase, epsilon) Mus musculus
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Symbol: Tmlhe
Name: trimethyllysine hydroxylase, epsilon
RGD ID: 733461
MGI Page MGI
Description: Enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen and trimethyllysine dioxygenase activity. Acts upstream of or within carnitine biosynthetic process. Located in mitochondrion. Is expressed in several structures, including brain; liver; and lung. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human TMLHE (trimethyllysine hydroxylase, epsilon).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Bbox; Bbox2; butyrobetaine (gamma), 2-oxoglutarate dioxygenase 2 (gamma-butyrobetaine hydroxylase); D430017M14Rik; epsilon-trimethyllysine 2-oxoglutarate dioxygenase; MGC130426; TML; TML dioxygenase; TML hydroxylase; TML-alpha-ketoglutarate dioxygenase; TMLD; TMLH; trimethyllysine dioxygenase, mitochondrial
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic MapX NCBI


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
mitochondrial matrix  (ISO)
mitochondrion  (IBA,IDA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Structural basis of allotypes of ecto-nucleotide pyrophosphatase/phosphodiesterase (plasma cell membrane glycoprotein PC-1) in the mouse and rat, and analysis of allele-specific xenogeneic antibodies. Banakh I, etal., Eur J Immunogenet 2002 Aug;29(4):307-13.
2. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
3. MGDs mouse GO annotations MGD data from the GO Consortium
4. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. 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.
Additional References at PubMed
PMID:10349636   PMID:11042159   PMID:11076861   PMID:11217851   PMID:12477932   PMID:15489334   PMID:15754339   PMID:16141072   PMID:16141073   PMID:17408883   PMID:21873635   PMID:30550785  
PMID:31138677   PMID:34728372   PMID:37553674  


Genomics

Comparative Map Data
Tmlhe
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic MapX NCBI
TMLHE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X155,489,011 - 155,612,952 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX155,489,011 - 155,719,098 (-)EnsemblGRCh38hg38GRCh38
GRCh37X154,718,672 - 154,842,613 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X154,372,967 - 154,495,791 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X154,283,476 - 154,406,301NCBI
CeleraX154,736,459 - 154,739,995 (+)NCBICelera
CeleraX154,903,691 - 154,996,305 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX143,232,719 - 143,323,711 (-)NCBIHuRef
CHM1_1X154,630,300 - 154,754,464 (-)NCBICHM1_1
T2T-CHM13v2.0X153,718,334 - 153,838,175 (-)NCBIT2T-CHM13v2.0
Tmlhe
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82096,561 - 144,414 (+)NCBIGRCr8
mRatBN7.22091,234 - 138,942 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2091,272 - 140,386 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx20100,768 - 153,428 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.020104,240 - 156,894 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02099,724 - 147,338 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.020237,461 - 285,125 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl20237,506 - 284,943 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.020231,244 - 279,207 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4208,623 - 56,125 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12019,571 - 56,039 (+)NCBI
Celera20963,069 - 1,011,108 (+)NCBICelera
Cytogenetic Map20p12NCBI
Tmlhe
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955594272,646 - 331,757 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955594272,668 - 329,997 (+)NCBIChiLan1.0ChiLan1.0
TMLHE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X155,455,887 - 155,580,231 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X155,447,729 - 155,583,817 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X144,956,906 - 145,081,204 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X154,870,199 - 154,976,780 (-)NCBIpanpan1.1PanPan1.1panPan2
TMLHE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X123,322,773 - 123,438,999 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX123,324,729 - 123,438,947 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX108,309,388 - 108,425,608 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X126,454,187 - 126,569,036 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1X122,191,346 - 122,307,568 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X124,713,751 - 124,830,273 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X124,445,149 - 124,561,391 (-)NCBIUU_Cfam_GSD_1.0
Tmlhe
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X120,209,145 - 120,330,205 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493695864,713 - 113,627 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMLHE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,598,116 - 125,673,669 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,601,920 - 125,673,716 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,728,254 - 142,800,047 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMLHE
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X129,628,788 - 129,729,616 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX129,626,286 - 129,729,592 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606567,704,658 - 67,816,724 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmlhe
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624980310,426 - 406,972 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624980310,630 - 407,364 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Markers in Region
UniSTS:225300  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X204,172 - 204,327UniSTSGRCm38
MGSCv37X204,172 - 204,327UniSTSGRCm37
Zfp191  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X268,936 - 269,250UniSTSGRCm38
MGSCv37X268,936 - 269,250UniSTSGRCm37
Cytogenetic Map18B1UniSTS
cM Map18 UniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_138758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006535854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_036162209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AEKQ02186172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AEKQ02186174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK051339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK052425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK144627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK161724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY033513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CAAA01019119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CAAA01019121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CAAA01117109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CAAA01120074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CAAA01141877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CAAA01142147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CAAA01183048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO907126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO907128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LXEJ02003837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LXEJ02011718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q91ZE0-F1-model_v2 AlphaFold Q91ZE0 1-421 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2180203 AgrOrtholog
Gene3D-CATH 3.30.2020.30 UniProtKB/Swiss-Prot
  3.60.130.10 UniProtKB/Swiss-Prot
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 mmu:192289 UniProtKB/Swiss-Prot
MGD MGI:2180203 ENTREZGENE
NCBI Gene 192289 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
Superfamily-SCOP Clavaminate synthase-like UniProtKB/Swiss-Prot
UniProt Q3TSX6 ENTREZGENE
  Q3UMX1 ENTREZGENE
  Q91XH1 ENTREZGENE
  Q91ZE0 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q3TSX6 UniProtKB/Swiss-Prot
  Q3UMX1 UniProtKB/Swiss-Prot
  Q91XH1 UniProtKB/Swiss-Prot