Aliases for LIPT1 Gene
Aliases for LIPT1 Gene
External Ids for LIPT1 Gene
- HGNC: 29569
- Entrez Gene: 51601
- Ensembl: ENSG00000144182
- OMIM: 610284
- UniProtKB: Q9Y234
Previous GeneCards Identifiers for LIPT1 Gene
- GC02P098224
- GC02P099375
- GC00U914350
- GC02P099393
- GC02P099229
- GC02P099138
- GC02P099139
- GC02P099771
- GC02P093537
Summaries for LIPT1 Gene
-
The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011]
GeneCards Summary for LIPT1 Gene
LIPT1 (Lipoyltransferase 1) is a Protein Coding gene. Diseases associated with LIPT1 include Lipoyltransferase 1 Deficiency and Leigh Syndrome With Leukodystrophy. Among its related pathways are Glyoxylate metabolism and glycine degradation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups.
UniProtKB/Swiss-Prot for LIPT1 Gene
-
Catalyzes the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes.
Additional gene information for LIPT1 Gene
- Monarch Initiative
- Search for LIPT1 at DataMed
- Search for LIPT1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LIPT1 Gene
Genomics for LIPT1 Gene
GeneHancer (GH) Regulatory Elements for LIPT1 Gene
Promoters and enhancers for LIPT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around LIPT1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for LIPT1 Gene
Genomic Locations for LIPT1 Gene
- chr2:99,154,955-99,163,157
- (GRCh38/hg38)
- Size:
- 8,203 bases
- Orientation:
- Plus strand
- chr2:99,771,418-99,779,620
- (GRCh37/hg19)
Genomic View for LIPT1 Gene
Genes around LIPT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q11.2 by Ensembl
- 2q11.2 by Entrez Gene
- 2q11.2 by HGNC
LIPT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for LIPT1 Gene
Proteins for LIPT1 Gene
-
Protein details for LIPT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y234-LIPT_HUMAN
- Recommended name:
- Lipoyltransferase 1, mitochondrial
- Protein Accession:
- Q9Y234
- Q4ZFZ1
Protein attributes for LIPT1 Gene
- Size:
- 373 amino acids
- Molecular mass:
- 42479 Da
- Quaternary structure:
- No Data Available
Protein Expression for LIPT1 Gene
Post-translational modifications for LIPT1 Gene
- Ubiquitination at posLast=131131, isoforms=150, and isoforms=264
Other Protein References for LIPT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Domains & Families for LIPT1 Gene
Gene Families for LIPT1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for LIPT1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for LIPT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y234- Family:
-
- Belongs to the LplA family.
Function for LIPT1 Gene
Molecular function for LIPT1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Lipoyl-AMP + protein = protein N(6)-(lipoyl)lysine + AMP.
- UniProtKB/Swiss-Prot Function:
- Catalyzes the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes.
Enzyme Numbers (IUBMB) for LIPT1 Gene
Phenotypes From GWAS Catalog for LIPT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016746 | transferase activity, transferring acyl groups | TAS | -- |
| GO:0016979 | lipoate-protein ligase activity | IBA | -- |
Phenotypes for LIPT1 Gene
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Localization for LIPT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for LIPT1 Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 3 |
| nucleus | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005759 | mitochondrial matrix | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for LIPT1 Gene
Pathways & Interactions for LIPT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glyoxylate metabolism and glycine degradation |
.01
|
|
| 2 | Metabolism |
.37
|
|
| 3 | Viral mRNA Translation | ||
Pathways by source for LIPT1 Gene
2 BioSystems pathways for LIPT1 Gene
3 Reactome pathways for LIPT1 Gene
2 KEGG pathways for LIPT1 Gene
UniProtKB/Swiss-Prot Q9Y234-LIPT_HUMAN
- Pathway: Protein modification; protein lipoylation via exogenous pathway; protein N(6)-(lipoyl)lysine from lipoate: step 2/2.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006464 | cellular protein modification process | TAS | 10103005 |
| GO:0006629 | lipid metabolic process | TAS | 10103005 |
| GO:0009249 | protein lipoylation | IBA,IEA | -- |
| GO:0034641 | cellular nitrogen compound metabolic process | TAS | -- |
No data available for SIGNOR curated interactions for LIPT1 Gene
Drugs & Compounds for LIPT1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (S)-lipoic acid |
|
1077-27-6 | ||||
| Lipoyl-AMP |
|
|
Transcripts for LIPT1 Gene
mRNA/cDNA for LIPT1 Gene
- (6) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (317) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
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| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||
| SP4: | - | ||||||||||||||||||||
| SP5: | - |
Expression for LIPT1 Gene
mRNA differential expression in normal tissues according to GTEx for LIPT1 Gene
This gene is overexpressed in Testis (x4.2).
This gene is overexpressed in CD8 Tcells (68.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LIPT1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of LIPT1 Gene:
LIPT1SOURCE GeneReport for Unigene cluster for LIPT1 Gene:
Hs.719172mRNA Expression by UniProt/SwissProt for LIPT1 Gene:
Q9Y234-LIPT_HUMAN
Tissue specificity:
Highly expressed in skeletal muscle and heart, moderately in kidney and pancreas, and detected at lower levels in liver, brain, placenta and lung.
Evidence on tissue expression from TISSUES for LIPT1 Gene
- Bone marrow(4.1)
- Liver(4.1)
- Lung(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for LIPT1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
Organs:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cranial nerve
- eye
- eyelid
- face
- head
- meninges
- neck
Thorax:
- lung
Abdomen:
- liver
General:
- hair
- peripheral nervous system
- skin
- spinal cord
Primer Products
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No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for LIPT1 Gene
Orthologs for LIPT1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LIPT1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | LIPT1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | LIPT1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Lipt1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Lipt1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | LIPT1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LIPT1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | LIPT1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lipt1 33 |
|
||
| Str.12049 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | lipt1 33 34 |
|
||
| Dr.6188 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7358 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG8446 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012186 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C45G3.3 33 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AIM22 34 |
|
OneToOne | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | aim22 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU05421 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.8499 33 |
|
- Species where no ortholog for LIPT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for LIPT1 Gene
Pseudogenes.org Pseudogenes for LIPT1 Gene
No data available for Paralogs for LIPT1 Gene
Variants for LIPT1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs137891647 | pathogenic, Lipoyltransferase 1 deficiency | 99,162,832(+) | C/G | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs137973334 | pathogenic, Lipoyltransferase 1 deficiency, Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299] | 99,162,249(+) | C/G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs767568897 | pathogenic, Lipoyltransferase 1 deficiency, Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299] | 99,162,169(+) | C/G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs786205156 | pathogenic, Lipoyltransferase 1 deficiency, Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299] | 99,162,492(+) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs863224892 | pathogenic, Lipoyltransferase 1 deficiency | 99,162,763(+) | G/A | coding_sequence_variant, non_coding_transcript_variant, stop_gained |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3591732 | CNV | gain | 21293372 |
Residual Variation Intolerance Score:
37.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.12;
38.62% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for LIPT1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LIPT1 Gene
Disorders for LIPT1 Gene
(3) MalaCards diseases for LIPT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lipoyltransferase 1 deficiency |
|
|
| leigh syndrome with leukodystrophy |
|
|
| glycine encephalopathy |
|
|
Search LIPT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
LIPT_HUMAN- Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299]: A 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. {ECO:0000269 PubMed:24256811, ECO:0000269 PubMed:24341803}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for LIPT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for LIPT1 Gene
Publications for LIPT1 Gene
- Molecular cloning, structural characterization and chromosomal localization of human lipoyltransferase gene. (PMID: 10103005) Fujiwara K … Motokawa Y (European journal of biochemistry 1999) 2 3 4 58
- Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. (PMID: 24256811) Tort F … Ribes A (Human molecular genetics 2014) 3 4 58
- Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. (PMID: 24341803) Soreze Y … de Lonlay P (Orphanet journal of rare diseases 2013) 3 4 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
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Sources for LIPT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
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- (112) RVIS
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- (114) diseasecard
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- (116) Orphanet
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- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew