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Entry version 151 (12 Aug 2020)
Sequence version 1 (01 Nov 1999)
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Protein

Lipoyltransferase 1, mitochondrial

Gene

LIPT1

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

Catalyzes the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes.By similarity

<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 <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: protein lipoylation via exogenous pathway

This protein is involved in step 2 of the subpathway that synthesizes protein N(6)-(lipoyl)lysine from lipoate.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. no protein annotated in this organism
  2. Lipoyltransferase 1, mitochondrial (LIPT1), Lipoyltransferase 1, mitochondrial (LIPT1), Lipoyltransferase 1, mitochondrial (LIPT1), Lipoyltransferase 1, mitochondrial (LIPT1)
This subpathway is part of the pathway protein lipoylation via exogenous pathway, which is itself part of Protein modification.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes protein N(6)-(lipoyl)lysine from lipoate, the pathway protein lipoylation via exogenous pathway and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei107Substrate; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei151SubstrateBy similarity1
Binding sitei161SubstrateBy similarity1
Binding sitei179SubstrateBy 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 functionAcyltransferase, Transferase

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9Y234

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-389661, Glyoxylate metabolism and glycine degradation

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

More...
UniPathwayi
UPA00537;UER00595

<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:
Lipoyltransferase 1, mitochondrial (EC:2.3.1.-)
Alternative name(s):
Lipoate biosynthesis protein
Lipoate-protein ligase
Lipoyl ligase
<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:LIPT1
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000144182.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29569, LIPT1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610284, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y234

<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

Lipoyltransferase 1 deficiency (LIPT1D)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension.
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_07366971S → F in LIPT1D. 1 PublicationCorresponds to variant dbSNP:rs767568897EnsemblClinVar.1
Natural variantiVAR_07367098R → G in LIPT1D. 1 PublicationCorresponds to variant dbSNP:rs137973334EnsemblClinVar.1
Natural variantiVAR_073671179T → A in LIPT1D. 1 PublicationCorresponds to variant dbSNP:rs786205156EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
51601

MalaCards human disease database

More...
MalaCardsi
LIPT1
MIMi616299, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000144182

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
255241, Leigh syndrome with leukodystrophy
401862, Lipoyl transferase 1 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134940073

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y234, Tdark

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00166, Lipoic acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LIPT1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
25167326

<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 – 25MitochondrionBy similarityAdd BLAST25
<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_000001785626 – 373Lipoyltransferase 1, mitochondrialAdd BLAST348

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y234

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y234

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9Y234

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9Y234

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

More...
PaxDbi
Q9Y234

PeptideAtlas

More...
PeptideAtlasi
Q9Y234

PRoteomics IDEntifications database

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PRIDEi
Q9Y234

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85627

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y234

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

More...
PhosphoSitePlusi
Q9Y234

<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

Highly expressed in skeletal muscle and heart, moderately in kidney and pancreas, and detected at lower levels in liver, brain, placenta and lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000144182, Expressed in calcaneal tendon and 237 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y234, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y234, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000144182, 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
119630, 9 interactors

Protein interaction database and analysis system

More...
IntActi
Q9Y234, 8 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000377115

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9Y234, 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
Q9Y234

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini57 – 243BPL/LPL catalyticPROSITE-ProRule annotationAdd BLAST187

<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 LplA family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3159, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000008846

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_022986_4_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y234

KEGG Orthology (KO)

More...
KOi
K10105

Identification of Orthologs from Complete Genome Data

More...
OMAi
YHQIDNH

Database of Orthologous Groups

More...
OrthoDBi
1090038at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y234

TreeFam database of animal gene trees

More...
TreeFami
TF314085

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004143, BPL_LPL_catalytic
IPR004562, LipoylTrfase_LipoateP_Ligase

The PANTHER Classification System

More...
PANTHERi
PTHR12561, PTHR12561, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00545, lipoyltrans, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51733, BPL_LPL_CATALYTIC, 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>Sequence (1+)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 has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q9Y234-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLIPFSMKNC FQLLCNCQVP AAGFKKTVKN GLILQSISND VYQNLAVEDW
60 70 80 90 100
IHDHMNLEGK PILFFWQNSP SVVIGRHQNP WQECNLNLMR EEGIKLARRR
110 120 130 140 150
SGGGTVYHDM GNINLTFFTT KKKYDRMENL KLIVRALNAV QPQLDVQATK
160 170 180 190 200
RFDLLLDGQF KISGTASKIG RTTAYHHCTL LCSTDGTFLS SLLKSPYQGI
210 220 230 240 250
RSNATASIPS LVKNLLEKDP TLTCEVLMNA VATEYAAYHQ IDNHIHLINP
260 270 280 290 300
TDETLFPGIN SKAKELQTWE WIYGKTPKFS INTSFHVLYE QSHLEIKVFI
310 320 330 340 350
DIKNGRIEIC NIEAPDHWLP LEIRDKLNSS LIGSKFCPTE TTMLTNILLR
360 370
TCPQDHKLNS KWNILCEKIK GIM
Length:373
Mass (Da):42,479
Last modified:November 1, 1999 - 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:i51E72E1E4F943C96
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JUU5C9JUU5_HUMAN
Lipoyltransferase 1, mitochondrial
LIPT1
251Annotation score:

Annotation score:1 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>
C9JW10C9JW10_HUMAN
Lipoyltransferase 1, mitochondrial
LIPT1
135Annotation score:

Annotation score:1 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>
C9J6A9C9J6A9_HUMAN
Lipoyltransferase 1, mitochondrial
LIPT1
106Annotation score:

Annotation score:1 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>
C9J7C5C9J7C5_HUMAN
Lipoyltransferase 1, mitochondrial
LIPT1
39Annotation score:

Annotation score:1 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07366971S → F in LIPT1D. 1 PublicationCorresponds to variant dbSNP:rs767568897EnsemblClinVar.1
Natural variantiVAR_07367098R → G in LIPT1D. 1 PublicationCorresponds to variant dbSNP:rs137973334EnsemblClinVar.1
Natural variantiVAR_073671179T → A in LIPT1D. 1 PublicationCorresponds to variant dbSNP:rs786205156EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB017566 mRNA Translation: BAA76367.1
AB017567 Genomic DNA Translation: BAA76368.1
AC092587 Genomic DNA Translation: AAX88927.1
CH471127 Genomic DNA Translation: EAX01877.1
BC007001 mRNA Translation: AAH07001.1
BC009772 mRNA Translation: AAH09772.1
BC070145 mRNA Translation: AAH70145.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2039.1

NCBI Reference Sequences

More...
RefSeqi
NP_001191759.1, NM_001204830.1
NP_057013.1, NM_015929.3
NP_660198.1, NM_145197.2
NP_660199.1, NM_145198.2
NP_660200.1, NM_145199.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000393471; ENSP00000377114; ENSG00000144182
ENST00000393473; ENSP00000377115; ENSG00000144182
ENST00000651691; ENSP00000498546; ENSG00000144182

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51601

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51601

UCSC genome browser

More...
UCSCi
uc002szo.5, human

<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
AB017566 mRNA Translation: BAA76367.1
AB017567 Genomic DNA Translation: BAA76368.1
AC092587 Genomic DNA Translation: AAX88927.1
CH471127 Genomic DNA Translation: EAX01877.1
BC007001 mRNA Translation: AAH07001.1
BC009772 mRNA Translation: AAH09772.1
BC070145 mRNA Translation: AAH70145.1
CCDSiCCDS2039.1
RefSeqiNP_001191759.1, NM_001204830.1
NP_057013.1, NM_015929.3
NP_660198.1, NM_145197.2
NP_660199.1, NM_145198.2
NP_660200.1, NM_145199.2

3D structure databases

SMRiQ9Y234
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi119630, 9 interactors
IntActiQ9Y234, 8 interactors
STRINGi9606.ENSP00000377115

Chemistry databases

DrugBankiDB00166, Lipoic acid

PTM databases

iPTMnetiQ9Y234
PhosphoSitePlusiQ9Y234

Polymorphism and mutation databases

BioMutaiLIPT1
DMDMi25167326

Proteomic databases

EPDiQ9Y234
jPOSTiQ9Y234
MassIVEiQ9Y234
MaxQBiQ9Y234
PaxDbiQ9Y234
PeptideAtlasiQ9Y234
PRIDEiQ9Y234
ProteomicsDBi85627

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
32790, 43 antibodies

The DNASU plasmid repository

More...
DNASUi
51601

Genome annotation databases

EnsembliENST00000393471; ENSP00000377114; ENSG00000144182
ENST00000393473; ENSP00000377115; ENSG00000144182
ENST00000651691; ENSP00000498546; ENSG00000144182
GeneIDi51601
KEGGihsa:51601
UCSCiuc002szo.5, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51601
DisGeNETi51601
EuPathDBiHostDB:ENSG00000144182.16

GeneCards: human genes, protein and diseases

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GeneCardsi
LIPT1
HGNCiHGNC:29569, LIPT1
HPAiENSG00000144182, Low tissue specificity
MalaCardsiLIPT1
MIMi610284, gene
616299, phenotype
neXtProtiNX_Q9Y234
OpenTargetsiENSG00000144182
Orphaneti255241, Leigh syndrome with leukodystrophy
401862, Lipoyl transferase 1 deficiency
PharmGKBiPA134940073

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3159, Eukaryota
GeneTreeiENSGT00390000008846
HOGENOMiCLU_022986_4_1_1
InParanoidiQ9Y234
KOiK10105
OMAiYHQIDNH
OrthoDBi1090038at2759
PhylomeDBiQ9Y234
TreeFamiTF314085

Enzyme and pathway databases

UniPathwayiUPA00537;UER00595
PathwayCommonsiQ9Y234
ReactomeiR-HSA-389661, Glyoxylate metabolism and glycine degradation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
51601, 130 hits in 874 CRISPR screens

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

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GenomeRNAii
51601
PharosiQ9Y234, Tdark

Protein Ontology

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PROi
PR:Q9Y234
RNActiQ9Y234, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000144182, Expressed in calcaneal tendon and 237 other tissues
ExpressionAtlasiQ9Y234, baseline and differential
GenevisibleiQ9Y234, HS

Family and domain databases

InterProiView protein in InterPro
IPR004143, BPL_LPL_catalytic
IPR004562, LipoylTrfase_LipoateP_Ligase
PANTHERiPTHR12561, PTHR12561, 1 hit
TIGRFAMsiTIGR00545, lipoyltrans, 1 hit
PROSITEiView protein in PROSITE
PS51733, BPL_LPL_CATALYTIC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiLIPT_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: Q9Y234
Secondary accession number(s): Q4ZFZ1
<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: October 10, 2002
Last sequence update: November 1, 1999
Last modified: August 12, 2020
This is version 151 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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