Tmlhe trimethyllysine hydroxylase, epsilon [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Tmlheprovided by RGD
Official Full Name: trimethyllysine hydroxylase, epsilonprovided by RGD
Primary source: RGD:620629
See related: EnsemblRapid:ENSRNOG00000000729 AllianceGenome:RGD:620629
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Tmlh
Summary: Enables trimethyllysine dioxygenase activity. Predicted to be involved in carnitine biosynthetic process and negative regulation of oxidoreductase activity. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human TMLHE (trimethyllysine hydroxylase, epsilon). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Kidney (RPKM 853.6), Adrenal (RPKM 110.3) and 6 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 20p12

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	20	NC_086038.1 (96561..144414)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	20	NC_051355.1 (91234..138942)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	20	NC_005119.4 (237461..285125)

Chromosome 20 - NC_086038.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ISO Inferred from Sequence Orthology more info
enables trimethyllysine dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables trimethyllysine dioxygenase activity	IEA Inferred from Electronic Annotation more info
NOT enables trimethyllysine dioxygenase activity	ISO Inferred from Sequence Orthology more info
enables trimethyllysine dioxygenase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in carnitine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in carnitine biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within carnitine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in carnitine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in carnitine biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in carnitine biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of oxidoreductase activity	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: trimethyllysine dioxygenase, mitochondrial

Names: TML dioxygenase; TML hydroxylase; TML-alpha-ketoglutarate dioxygenase; TMLD; epsilon-trimethyllysine 2-oxoglutarate dioxygenase; epsilon-trimethyllysine hydroxylase

NP_596878.2

EC 1.14.11.8

XP_006255917.1

EC 1.14.11.8

XP_038954326.1

EC 1.14.11.8

XP_038954329.1

EC 1.14.11.8

XP_063135014.1

EC 1.14.11.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001434566.1 → NP_001421495.1 trimethyllysine dioxygenase, mitochondrial isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000020

UniProtKB/Swiss-Prot

Q5U2P7, Q91ZW6

UniProtKB/TrEMBL

A6KR34
NM_133387.3 → NP_596878.2 trimethyllysine dioxygenase, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_596878.2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000020

UniProtKB/Swiss-Prot

Q91ZW6

Related

ENSRNOP00000068031.1, ENSRNOT00000076901.4

Conserved Domains (3) summary

cd00250
Location:154 → 420

CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...

TIGR02410
Location:82 → 431

carnitine_TMLD; trimethyllysine dioxygenase

pfam06155
Location:70 → 145

DUF971; Protein of unknown function (DUF971)

RNA

NR_197948.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

JAXUCZ010000020

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086038.1 Reference GRCr8

Range

96561..144414

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006255855.3 → XP_006255917.1 trimethyllysine dioxygenase, mitochondrial isoform X2

Conserved Domains (3) summary

cd00250
Location:142 → 408

CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...

TIGR02410
Location:70 → 419

carnitine_TMLD; trimethyllysine dioxygenase

pfam06155
Location:54 → 133

DUF971; Protein of unknown function (DUF971)
XM_063278944.1 → XP_063135014.1 trimethyllysine dioxygenase, mitochondrial isoform X1

Related

ENSRNOP00000044070.3, ENSRNOT00000049573.6
XM_039098398.2 → XP_038954326.1 trimethyllysine dioxygenase, mitochondrial isoform X1

UniProtKB/TrEMBL

A0A8L2QMT7

Conserved Domains (1) summary

cl00184
Location:145 → 443

CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...
XM_039098401.2 → XP_038954329.1 trimethyllysine dioxygenase, mitochondrial isoform X3

Conserved Domains (1) summary

cl00184
Location:2 → 351

CAS_like; Clavaminic acid synthetase (CAS) -like; CAS is a trifunctional Fe(II)/ 2-oxoglutarate (2OG) oxygenase carrying out three reactions in the biosynthesis of clavulanic acid, an inhibitor of class A serine beta-lactamases. In general, Fe(II)-2OG oxygenases ...