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LIPT1 (lipoyltransferase 1)

Identity

Alias_symbol (synonym)MGC12290
MGC13378
Other aliasLIPT1D
HGNC (Hugo) LIPT1
LocusID (NCBI) 51601
Atlas_Id 66121
Location 2q11.2  [Link to chromosome band 2q11]
Location_base_pair Starts at 99771537 and ends at 99779613 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LIPT1   29569
Cards
Entrez_Gene (NCBI)LIPT1  51601  lipoyltransferase 1
AliasesLIPT1D
GeneCards (Weizmann)LIPT1
Ensembl hg19 (Hinxton)ENSG00000144182 [Gene_View]  chr2:99771537-99779613 [Contig_View]  LIPT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000144182 [Gene_View]  chr2:99771537-99779613 [Contig_View]  LIPT1 [Vega]
ICGC DataPortalENSG00000144182
TCGA cBioPortalLIPT1
AceView (NCBI)LIPT1
Genatlas (Paris)LIPT1
WikiGenes51601
SOURCE (Princeton)LIPT1
Genetics Home Reference (NIH)LIPT1
Genomic and cartography
GoldenPath hg19 (UCSC)LIPT1  -     chr2:99771537-99779613 +  2q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LIPT1  -     2q11.2   [Description]    (hg38-Dec_2013)
EnsemblLIPT1 - 2q11.2 [CytoView hg19]  LIPT1 - 2q11.2 [CytoView hg38]
Mapping of homologs : NCBILIPT1 [Mapview hg19]  LIPT1 [Mapview hg38]
OMIM610284   616299   
Gene and transcription
Genbank (Entrez)AA811675 AB017566 BC007001 BC009772 BC070145
RefSeq transcript (Entrez)NM_001204830 NM_015929 NM_145196 NM_145197 NM_145198 NM_145199
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929303
Consensus coding sequences : CCDS (NCBI)LIPT1
Cluster EST : UnigeneHs.739177 [ NCBI ]
CGAP (NCI)Hs.739177
Alternative Splicing GalleryENSG00000144182
Gene ExpressionLIPT1 [ NCBI-GEO ]   LIPT1 [ EBI - ARRAY_EXPRESS ]   LIPT1 [ SEEK ]   LIPT1 [ MEM ]
Gene Expression Viewer (FireBrowse)LIPT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51601
GTEX Portal (Tissue expression)LIPT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y234   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y234  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y234
Splice isoforms : SwissVarQ9Y234
Catalytic activity : Enzyme2.3.1.- [ Enzyme-Expasy ]   2.3.1.-2.3.1.- [ IntEnz-EBI ]   2.3.1.- [ BRENDA ]   2.3.1.- [ KEGG ]   
PhosPhoSitePlusQ9Y234
Domaine pattern : Prosite (Expaxy)BPL_LPL_CATALYTIC (PS51733)   
Domains : Interpro (EBI)BPL_LipA_LipB    LipoylTrfase_LipoateP_Ligase   
Domain families : Pfam (Sanger)BPL_LplA_LipB (PF03099)   
Domain families : Pfam (NCBI)pfam03099   
Conserved Domain (NCBI)LIPT1
DMDM Disease mutations51601
Blocks (Seattle)LIPT1
SuperfamilyQ9Y234
Human Protein AtlasENSG00000144182
Peptide AtlasQ9Y234
HPRD17282
IPIIPI00006375   IPI00915912   IPI00917129   IPI00917243   IPI00917415   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y234
IntAct (EBI)Q9Y234
FunCoupENSG00000144182
BioGRIDLIPT1
STRING (EMBL)LIPT1
ZODIACLIPT1
Ontologies - Pathways
QuickGOQ9Y234
Ontology : AmiGOmitochondrion  cellular protein modification process  lipid metabolic process  protein lipoylation  transferase activity, transferring acyl groups  
Ontology : EGO-EBImitochondrion  cellular protein modification process  lipid metabolic process  protein lipoylation  transferase activity, transferring acyl groups  
Pathways : KEGGLipoic acid metabolism   
NDEx NetworkLIPT1
Atlas of Cancer Signalling NetworkLIPT1
Wikipedia pathwaysLIPT1
Orthology - Evolution
OrthoDB51601
GeneTree (enSembl)ENSG00000144182
Phylogenetic Trees/Animal Genes : TreeFamLIPT1
HOVERGENQ9Y234
HOGENOMQ9Y234
Homologs : HomoloGeneLIPT1
Homology/Alignments : Family Browser (UCSC)LIPT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLIPT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LIPT1
dbVarLIPT1
ClinVarLIPT1
1000_GenomesLIPT1 
Exome Variant ServerLIPT1
ExAC (Exome Aggregation Consortium)LIPT1 (select the gene name)
Genetic variants : HAPMAP51601
Genomic Variants (DGV)LIPT1 [DGVbeta]
DECIPHER (Syndromes)2:99771537-99779613  ENSG00000144182
CONAN: Copy Number AnalysisLIPT1 
Mutations
ICGC Data PortalLIPT1 
TCGA Data PortalLIPT1 
Broad Tumor PortalLIPT1
OASIS PortalLIPT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLIPT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLIPT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch LIPT1
DgiDB (Drug Gene Interaction Database)LIPT1
DoCM (Curated mutations)LIPT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LIPT1 (select a term)
intoGenLIPT1
Cancer3DLIPT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610284    616299   
Orphanet19814    22843   
MedgenLIPT1
Genetic Testing Registry LIPT1
NextProtQ9Y234 [Medical]
TSGene51601
GENETestsLIPT1
Huge Navigator LIPT1 [HugePedia]
snp3D : Map Gene to Disease51601
BioCentury BCIQLIPT1
ClinGenLIPT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51601
Chemical/Pharm GKB GenePA134940073
Clinical trialLIPT1
Miscellaneous
canSAR (ICR)LIPT1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLIPT1
EVEXLIPT1
GoPubMedLIPT1
iHOPLIPT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:14:33 CET 2017

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