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Protein

Lipoyltransferase 1, mitochondrial

Gene

LIPT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

Catalytic activityi

Lipoyl-AMP + protein = protein N(6)-(lipoyl)lysine + AMP.

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)
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
Binding sitei107Substrate; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei151SubstrateBy similarity1
Binding sitei161SubstrateBy similarity1
Binding sitei179SubstrateBy similarity1

GO - Molecular functioni

GO - Biological processi

  • cellular protein modification process Source: ProtInc
  • glyoxylate metabolic process Source: Reactome
  • lipid metabolic process Source: ProtInc
  • protein lipoylation Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Enzyme and pathway databases

BioCyciZFISH:HS07153-MONOMER.
ReactomeiR-HSA-389661. Glyoxylate metabolism and glycine degradation.
UniPathwayiUPA00537; UER00595.

Names & Taxonomyi

Protein namesi
Recommended name:
Lipoyltransferase 1, mitochondrial (EC:2.3.1.-)
Alternative name(s):
Lipoate biosynthesis protein
Lipoate-protein ligase
Lipoyl ligase
Gene namesi
Name:LIPT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:29569. LIPT1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

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.
See also OMIM:616299
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07366971S → F in LIPT1D. 1 PublicationCorresponds to variant rs767568897dbSNPEnsembl.1
Natural variantiVAR_07367098R → G in LIPT1D. 1 PublicationCorresponds to variant rs137973334dbSNPEnsembl.1
Natural variantiVAR_073671179T → A in LIPT1D. 1 PublicationCorresponds to variant rs786205156dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi51601.
MalaCardsiLIPT1.
MIMi616299. phenotype.
OpenTargetsiENSG00000144182.
Orphaneti255241. Leigh syndrome with leukodystrophy.
401862. Lipoyl transferase 1 deficiency.
PharmGKBiPA134940073.

Chemistry databases

DrugBankiDB00166. Lipoic Acid.

Polymorphism and mutation databases

BioMutaiLIPT1.
DMDMi25167326.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 25MitochondrionBy similarityAdd BLAST25
ChainiPRO_000001785626 – 373Lipoyltransferase 1, mitochondrialAdd BLAST348

Proteomic databases

EPDiQ9Y234.
MaxQBiQ9Y234.
PaxDbiQ9Y234.
PeptideAtlasiQ9Y234.
PRIDEiQ9Y234.

PTM databases

iPTMnetiQ9Y234.
PhosphoSitePlusiQ9Y234.

Expressioni

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

BgeeiENSG00000144182.
ExpressionAtlasiQ9Y234. baseline and differential.
GenevisibleiQ9Y234. HS.

Organism-specific databases

HPAiHPA034802.

Interactioni

Protein-protein interaction databases

BioGridi119630. 7 interactors.
IntActiQ9Y234. 1 interactor.
MINTiMINT-1385603.
STRINGi9606.ENSP00000342071.

Structurei

3D structure databases

ProteinModelPortaliQ9Y234.
SMRiQ9Y234.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini57 – 243BPL/LPL catalyticPROSITE-ProRule annotationAdd BLAST187

Sequence similaritiesi

Belongs to the LplA family.Curated
Contains 1 BPL/LPL catalytic domain.PROSITE-ProRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3159. Eukaryota.
COG0095. LUCA.
GeneTreeiENSGT00390000008846.
HOGENOMiHOG000260595.
HOVERGENiHBG028203.
InParanoidiQ9Y234.
KOiK10105.
OMAiWRNAETV.
OrthoDBiEOG091G09SS.
PhylomeDBiQ9Y234.
TreeFamiTF314085.

Family and domain databases

InterProiIPR004143. BPL_LPL_catalytic.
IPR004562. LipoylTrfase_LipoateP_Ligase.
[Graphical view]
TIGRFAMsiTIGR00545. lipoyltrans. 1 hit.
PROSITEiPS51733. BPL_LPL_CATALYTIC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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
Checksum:i51E72E1E4F943C96
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07366971S → F in LIPT1D. 1 PublicationCorresponds to variant rs767568897dbSNPEnsembl.1
Natural variantiVAR_07367098R → G in LIPT1D. 1 PublicationCorresponds to variant rs137973334dbSNPEnsembl.1
Natural variantiVAR_073671179T → A in LIPT1D. 1 PublicationCorresponds to variant rs786205156dbSNPEnsembl.1

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.
UniGeneiHs.719172.
Hs.739177.

Genome annotation databases

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

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.
UniGeneiHs.719172.
Hs.739177.

3D structure databases

ProteinModelPortaliQ9Y234.
SMRiQ9Y234.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119630. 7 interactors.
IntActiQ9Y234. 1 interactor.
MINTiMINT-1385603.
STRINGi9606.ENSP00000342071.

Chemistry databases

DrugBankiDB00166. Lipoic Acid.

PTM databases

iPTMnetiQ9Y234.
PhosphoSitePlusiQ9Y234.

Polymorphism and mutation databases

BioMutaiLIPT1.
DMDMi25167326.

Proteomic databases

EPDiQ9Y234.
MaxQBiQ9Y234.
PaxDbiQ9Y234.
PeptideAtlasiQ9Y234.
PRIDEiQ9Y234.

Protocols and materials databases

DNASUi51601.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51601.
DisGeNETi51601.
GeneCardsiLIPT1.
HGNCiHGNC:29569. LIPT1.
HPAiHPA034802.
MalaCardsiLIPT1.
MIMi610284. gene.
616299. phenotype.
neXtProtiNX_Q9Y234.
OpenTargetsiENSG00000144182.
Orphaneti255241. Leigh syndrome with leukodystrophy.
401862. Lipoyl transferase 1 deficiency.
PharmGKBiPA134940073.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3159. Eukaryota.
COG0095. LUCA.
GeneTreeiENSGT00390000008846.
HOGENOMiHOG000260595.
HOVERGENiHBG028203.
InParanoidiQ9Y234.
KOiK10105.
OMAiWRNAETV.
OrthoDBiEOG091G09SS.
PhylomeDBiQ9Y234.
TreeFamiTF314085.

Enzyme and pathway databases

UniPathwayiUPA00537; UER00595.
BioCyciZFISH:HS07153-MONOMER.
ReactomeiR-HSA-389661. Glyoxylate metabolism and glycine degradation.

Miscellaneous databases

GenomeRNAii51601.
PROiQ9Y234.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144182.
ExpressionAtlasiQ9Y234. baseline and differential.
GenevisibleiQ9Y234. HS.

Family and domain databases

InterProiIPR004143. BPL_LPL_catalytic.
IPR004562. LipoylTrfase_LipoateP_Ligase.
[Graphical view]
TIGRFAMsiTIGR00545. lipoyltrans. 1 hit.
PROSITEiPS51733. BPL_LPL_CATALYTIC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLIPT_HUMAN
AccessioniPrimary (citable) accession number: Q9Y234
Secondary accession number(s): Q4ZFZ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: November 1, 1999
Last modified: November 30, 2016
This is version 129 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.