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Entry version 165 (07 Oct 2020)
Sequence version 1 (01 Oct 2000)
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Protein

Trimethyllysine dioxygenase, mitochondrial

Gene

TMLHE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML) (PubMed:11431483, PubMed:23092983).2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Protein has several cofactor binding sites:

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: carnitine biosynthesis

This protein is involved in the pathway carnitine biosynthesis, which is part of Amine and polyamine biosynthesis.
View all proteins of this organism that are known to be involved in the pathway carnitine biosynthesis and in Amine and polyamine biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi242Iron; catalyticBy similarity1
Metal bindingi244Iron; catalyticBy similarity1
Metal bindingi389Iron; catalyticBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDioxygenase, Oxidoreductase
Biological processCarnitine biosynthesis
LigandIron, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS08089-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.14.11.8, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9NVH6

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-71262, Carnitine synthesis

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00118

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Trimethyllysine dioxygenase, mitochondrial (EC:1.14.11.82 Publications)
Alternative name(s):
Epsilon-trimethyllysine 2-oxoglutarate dioxygenase
Epsilon-trimethyllysine hydroxylase
TML hydroxylase
TML-alpha-ketoglutarate dioxygenase
Short name:
TML dioxygenase
Short name:
TMLD
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TMLHE
Synonyms:TMLH
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000185973.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18308, TMLHE

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300777, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NVH6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Autism, X-linked 6 (AUTSX6)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of autism, a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. AUTSX6 patients may respond favorably to carnitine supplementation.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076251244D → H in AUTSX6; loss of function. 1 PublicationCorresponds to variant dbSNP:rs869320708EnsemblClinVar.1
Natural variantiVAR_076252369E → D in AUTSX6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782001959EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi389H → L: No catalytic activity. 1 Publication1

Keywords - Diseasei

Autism, Autism spectrum disorder, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55217

MalaCards human disease database

More...
MalaCardsi
TMLHE
MIMi300872, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000185973

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38311

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NVH6, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00126, Ascorbic acid
DB00139, Succinic acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMLHE

Domain mapping of disease mutations (DMDM)

More...
DMDMi
21542295

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 15Mitochondrion1 PublicationAdd BLAST15
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000279516 – 421Trimethyllysine dioxygenase, mitochondrialAdd BLAST406

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei179N6-acetyllysineBy similarity1
Modified residuei236N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NVH6

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NVH6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NVH6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NVH6

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9NVH6

PeptideAtlas

More...
PeptideAtlasi
Q9NVH6

PRoteomics IDEntifications database

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PRIDEi
Q9NVH6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
82803 [Q9NVH6-1]
82804 [Q9NVH6-2]
82805 [Q9NVH6-3]
82806 [Q9NVH6-4]
82807 [Q9NVH6-5]
82808 [Q9NVH6-6]
82809 [Q9NVH6-7]
82810 [Q9NVH6-8]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NVH6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NVH6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000185973, Expressed in muscle of leg and 127 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NVH6, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000185973, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
120513, 7 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NVH6, 11 interactors

Molecular INTeraction database

More...
MINTi
Q9NVH6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000335261

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NVH6, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NVH6

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the gamma-BBH/TMLD family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3889, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063582

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_021859_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NVH6

KEGG Orthology (KO)

More...
KOi
K00474

Identification of Orthologs from Complete Genome Data

More...
OMAi
YDRAVFN

Database of Orthologous Groups

More...
OrthoDBi
868657at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NVH6

TreeFam database of animal gene trees

More...
TreeFami
TF313805

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.2020.30, 1 hit
3.60.130.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR010376, GBBH-like_N
IPR038492, GBBH-like_N_sf
IPR042098, TauD-like_sf
IPR003819, TauD/TfdA-like
IPR012776, Trimethyllysine_dOase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06155, GBBH-like_N, 1 hit
PF02668, TauD, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR02410, carnitine_TMLD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 8 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NVH6-1) [UniParc]FASTAAdd to basket
Also known as: TMLHa, TMLH1a

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MWYHRLSHLH SRLQDLLKGG VIYPALPQPN FKSLLPLAVH WHHTASKSLT
60 70 80 90 100
CAWQQHEDHF ELKYANTVMR FDYVWLRDHC RSASCYNSKT HQRSLDTASV
110 120 130 140 150
DLCIKPKTIR LDETTLFFTW PDGHVTKYDL NWLVKNSYEG QKQKVIQPRI
160 170 180 190 200
LWNAEIYQQA QVPSVDCQSF LETNEGLKKF LQNFLLYGIA FVENVPPTQE
210 220 230 240 250
HTEKLAERIS LIRETIYGRM WYFTSDFSRG DTAYTKLALD RHTDTTYFQE
260 270 280 290 300
PCGIQVFHCL KHEGTGGRTL LVDGFYAAEQ VLQKAPEEFE LLSKVPLKHE
310 320 330 340 350
YIEDVGECHN HMIGIGPVLN IYPWNKELYL IRYNNYDRAV INTVPYDVVH
360 370 380 390 400
RWYTAHRTLT IELRRPENEF WVKLKPGRVL FIDNWRVLHG RECFTGYRQL
410 420
CGCYLTRDDV LNTARLLGLQ A
Length:421
Mass (Da):49,518
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4E55DF349B866B43
GO
Isoform 2 (identifier: Q9NVH6-3) [UniParc]FASTAAdd to basket
Also known as: TMLHb

The sequence of this isoform differs from the canonical sequence as follows:
     333-421: YNNYDRAVIN...NTARLLGLQA → VLRSWCSTRT...PWLSGVFYTI

Note: Produced by alternative splicing. Lacks enzymatic activity.Curated
Show »
Length:399
Mass (Da):46,590
Checksum:i73A092B32CB15DF1
GO
Isoform 3 (identifier: Q9NVH6-4) [UniParc]FASTAAdd to basket
Also known as: TMLHc

The sequence of this isoform differs from the canonical sequence as follows:
     333-421: Missing.

Note: Produced by alternative splicing. Lacks enzymatic activity.Curated
Show »
Length:332
Mass (Da):38,864
Checksum:i864FB6A12712C1D3
GO
Isoform 4 (identifier: Q9NVH6-2) [UniParc]FASTAAdd to basket
Also known as: TMLHd

The sequence of this isoform differs from the canonical sequence as follows:
     333-421: YNNYDRAVIN...NTARLLGLQA → LFKEKQNTVN...TSIEHRGSLI

Note: Produced by alternative splicing. Lacks enzymatic activity.Curated
Show »
Length:376
Mass (Da):44,049
Checksum:iAB6D7A1DC57D6FCF
GO
Isoform 5 (identifier: Q9NVH6-5) [UniParc]FASTAAdd to basket
Also known as: TMLHe

The sequence of this isoform differs from the canonical sequence as follows:
     380-383: LFID → GPN
     384-421: Missing.

Note: Produced by alternative splicing. Lacks enzymatic activity.Curated
Show »
Length:382
Mass (Da):44,902
Checksum:i634B62F65E00F528
GO
Isoform 6 (identifier: Q9NVH6-6) [UniParc]FASTAAdd to basket
Also known as: TMLHf

The sequence of this isoform differs from the canonical sequence as follows:
     61-120: ELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTW → G

Note: Produced by alternative splicing. Lacks the mitochondrial transit signal.Curated
Show »
Length:362
Mass (Da):42,416
Checksum:i36F27DC4C85AC9B5
GO
Isoform 7 (identifier: Q9NVH6-7) [UniParc]FASTAAdd to basket
Also known as: TMLHg

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: Missing.

Note: Produced by alternative splicing.Curated
Show »
Length:353
Mass (Da):41,537
Checksum:iE7CDDCCF3D91E4E9
GO
Isoform 8 (identifier: Q9NVH6-8) [UniParc]FASTAAdd to basket
Also known as: TMLH1b

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MKIDSFLPILRM

Note: Produced by alternative promoter usage. Although the expression of the alternative 5' exon has been detected by PCR in heart and skeletal muscle, the identification of the alternative promoter leading to this form remains elusive (PubMed:17408883).1 Publication
Show »
Length:432
Mass (Da):50,832
Checksum:i47019D752A5E120A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti66N → D in CAG33546 (Ref. 3) Curated1
Sequence conflicti170F → S in BAF84383 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076251244D → H in AUTSX6; loss of function. 1 PublicationCorresponds to variant dbSNP:rs869320708EnsemblClinVar.1
Natural variantiVAR_076252369E → D in AUTSX6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782001959EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0422751 – 68Missing in isoform 7. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_0422761M → MKIDSFLPILRM in isoform 8. Curated1
Alternative sequenceiVSP_04227761 – 120ELKYA…LFFTW → G in isoform 6. CuratedAdd BLAST60
Alternative sequenceiVSP_042278333 – 421YNNYD…LGLQA → VLRSWCSTRTIEATSKEIKL YIVCRYSYFGETLFPRSKET VTSLPHMCAYKAAATNRPWL SGVFYTI in isoform 2. CuratedAdd BLAST89
Alternative sequenceiVSP_042279333 – 421Missing in isoform 3. 1 PublicationAdd BLAST89
Alternative sequenceiVSP_021579333 – 421YNNYD…LGLQA → LFKEKQNTVNRQWNSSLQCD IPERILTYRHFVSGTSIEHR GSLI in isoform 4. 2 PublicationsAdd BLAST89
Alternative sequenceiVSP_042280380 – 383LFID → GPN in isoform 5. Curated4
Alternative sequenceiVSP_042281384 – 421Missing in isoform 5. CuratedAdd BLAST38

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF373407 mRNA Translation: AAL01871.1
AK001589 mRNA Translation: BAA91775.1
AK291694 mRNA Translation: BAF84383.1
AK304830 mRNA Translation: BAG65575.1
AK310667 mRNA No translation available.
CR457265 mRNA Translation: CAG33546.1
AM393196 mRNA Translation: CAL38074.1
BX276110 Genomic DNA No translation available.
BC025269 mRNA Translation: AAH25269.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14768.1 [Q9NVH6-1]
CCDS55547.1 [Q9NVH6-2]

NCBI Reference Sequences

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RefSeqi
NP_001171726.1, NM_001184797.1 [Q9NVH6-2]
NP_060666.1, NM_018196.3 [Q9NVH6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000334398; ENSP00000335261; ENSG00000185973 [Q9NVH6-1]
ENST00000369439; ENSP00000358447; ENSG00000185973 [Q9NVH6-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55217

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55217

UCSC genome browser

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UCSCi
uc004fnn.5, human [Q9NVH6-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF373407 mRNA Translation: AAL01871.1
AK001589 mRNA Translation: BAA91775.1
AK291694 mRNA Translation: BAF84383.1
AK304830 mRNA Translation: BAG65575.1
AK310667 mRNA No translation available.
CR457265 mRNA Translation: CAG33546.1
AM393196 mRNA Translation: CAL38074.1
BX276110 Genomic DNA No translation available.
BC025269 mRNA Translation: AAH25269.1
CCDSiCCDS14768.1 [Q9NVH6-1]
CCDS55547.1 [Q9NVH6-2]
RefSeqiNP_001171726.1, NM_001184797.1 [Q9NVH6-2]
NP_060666.1, NM_018196.3 [Q9NVH6-1]

3D structure databases

SMRiQ9NVH6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120513, 7 interactors
IntActiQ9NVH6, 11 interactors
MINTiQ9NVH6
STRINGi9606.ENSP00000335261

Chemistry databases

DrugBankiDB00126, Ascorbic acid
DB00139, Succinic acid

PTM databases

iPTMnetiQ9NVH6
PhosphoSitePlusiQ9NVH6

Polymorphism and mutation databases

BioMutaiTMLHE
DMDMi21542295

Proteomic databases

EPDiQ9NVH6
jPOSTiQ9NVH6
MassIVEiQ9NVH6
MaxQBiQ9NVH6
PaxDbiQ9NVH6
PeptideAtlasiQ9NVH6
PRIDEiQ9NVH6
ProteomicsDBi82803 [Q9NVH6-1]
82804 [Q9NVH6-2]
82805 [Q9NVH6-3]
82806 [Q9NVH6-4]
82807 [Q9NVH6-5]
82808 [Q9NVH6-6]
82809 [Q9NVH6-7]
82810 [Q9NVH6-8]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
45457, 193 antibodies

The DNASU plasmid repository

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DNASUi
55217

Genome annotation databases

EnsembliENST00000334398; ENSP00000335261; ENSG00000185973 [Q9NVH6-1]
ENST00000369439; ENSP00000358447; ENSG00000185973 [Q9NVH6-2]
GeneIDi55217
KEGGihsa:55217
UCSCiuc004fnn.5, human [Q9NVH6-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55217
DisGeNETi55217
EuPathDBiHostDB:ENSG00000185973.10

GeneCards: human genes, protein and diseases

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GeneCardsi
TMLHE
HGNCiHGNC:18308, TMLHE
HPAiENSG00000185973, Low tissue specificity
MalaCardsiTMLHE
MIMi300777, gene
300872, phenotype
neXtProtiNX_Q9NVH6
OpenTargetsiENSG00000185973
PharmGKBiPA38311

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3889, Eukaryota
GeneTreeiENSGT00530000063582
HOGENOMiCLU_021859_2_0_1
InParanoidiQ9NVH6
KOiK00474
OMAiYDRAVFN
OrthoDBi868657at2759
PhylomeDBiQ9NVH6
TreeFamiTF313805

Enzyme and pathway databases

UniPathwayiUPA00118
BioCyciMetaCyc:HS08089-MONOMER
BRENDAi1.14.11.8, 2681
PathwayCommonsiQ9NVH6
ReactomeiR-HSA-71262, Carnitine synthesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
55217, 4 hits in 500 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TMLHE, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TMLHE

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55217
PharosiQ9NVH6, Tbio

Protein Ontology

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PROi
PR:Q9NVH6
RNActiQ9NVH6, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000185973, Expressed in muscle of leg and 127 other tissues
GenevisibleiQ9NVH6, HS

Family and domain databases

Gene3Di3.30.2020.30, 1 hit
3.60.130.10, 1 hit
InterProiView protein in InterPro
IPR010376, GBBH-like_N
IPR038492, GBBH-like_N_sf
IPR042098, TauD-like_sf
IPR003819, TauD/TfdA-like
IPR012776, Trimethyllysine_dOase
PfamiView protein in Pfam
PF06155, GBBH-like_N, 1 hit
PF02668, TauD, 1 hit
TIGRFAMsiTIGR02410, carnitine_TMLD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTMLH_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NVH6
Secondary accession number(s): A8K6M9
, B4E3R3, Q5TZB5, Q6IA90, Q8TBT0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: October 1, 2000
Last modified: October 7, 2020
This is version 165 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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