Lipoyltransferase 1, mitochondrial

Details

Name
Lipoyltransferase 1, mitochondrial
Synonyms
  • 2.3.1.-
  • Lipoate biosynthesis protein
  • Lipoate-protein ligase
  • Lipoyl ligase
Gene Name
LIPT1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0009893|Lipoyltransferase 1, mitochondrial
MLIPFSMKNCFQLLCNCQVPAAGFKKTVKNGLILQSISNDVYQNLAVEDWIHDHMNLEGK
PILFFWQNSPSVVIGRHQNPWQECNLNLMREEGIKLARRRSGGGTVYHDMGNINLTFFTT
KKKYDRMENLKLIVRALNAVQPQLDVQATKRFDLLLDGQFKISGTASKIGRTTAYHHCTL
LCSTDGTFLSSLLKSPYQGIRSNATASIPSLVKNLLEKDPTLTCEVLMNAVATEYAAYHQ
IDNHIHLINPTDETLFPGINSKAKELQTWEWIYGKTPKFSINTSFHVLYEQSHLEIKVFI
DIKNGRIEICNIEAPDHWLPLEIRDKLNSSLIGSKFCPTETTMLTNILLRTCPQDHKLNS
KWNILCEKIKGIM
Number of residues
373
Molecular Weight
42478.8
Theoretical pI
8.48
GO Classification
Functions
transferase activity, transferring acyl groups
Processes
cellular protein modification process / lipid metabolic process / protein lipoylation
Components
mitochondrion
General Function
Transferase activity, transferring acyl groups
Specific Function
Catalyzes the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Mitochondrion
Gene sequence
>lcl|BSEQ0009894|Lipoyltransferase 1, mitochondrial (LIPT1)
ATGCTGATCCCATTTTCAATGAAGAATTGCTTCCAGTTACTTTGTAACTGCCAGGTCCCA
GCAGCTGGCTTTAAAAAAACAGTAAAAAATGGGCTCATTTTACAGTCAATTTCCAATGAT
GTCTATCAAAATCTGGCTGTGGAAGACTGGATCCATGACCATATGAATCTAGAAGGCAAA
CCAATTCTATTCTTTTGGCAGAATTCTCCCTCTGTTGTAATTGGTAGGCATCAAAATCCT
TGGCAGGAATGTAACCTGAATCTAATGAGAGAAGAAGGTATAAAACTGGCTCGGAGAAGA
AGTGGAGGAGGAACAGTCTACCATGATATGGGTAATATCAATTTGACTTTCTTTACAACC
AAAAAAAAGTATGATAGAATGGAAAATCTGAAATTAATTGTGAGAGCTCTGAATGCTGTC
CAACCCCAGCTGGATGTGCAGGCTACCAAAAGATTTGACCTTTTACTTGATGGACAGTTT
AAAATCTCAGGAACAGCTTCTAAGATCGGCCGGACTACTGCCTATCACCATTGCACTTTA
TTATGTAGTACTGATGGGACGTTCTTGTCTTCTTTGCTAAAGAGCCCTTACCAAGGGATC
AGGAGCAATGCCACTGCTAGCATACCTTCCTTAGTGAAAAATCTTTTGGAAAAGGATCCC
ACTCTGACCTGTGAAGTACTAATGAATGCTGTTGCTACAGAGTATGCTGCTTATCATCAA
ATTGATAATCACATTCACCTAATAAACCCAACGGATGAGACACTGTTTCCTGGAATAAAT
AGCAAAGCCAAAGAACTGCAAACTTGGGAGTGGATATATGGCAAAACTCCAAAGTTTAGT
ATAAATACTTCCTTTCATGTGTTATATGAACAGTCACACTTGGAAATTAAAGTATTCATA
GACATAAAGAATGGAAGAATTGAAATTTGTAATATTGAAGCACCTGATCATTGGTTGCCA
TTGGAAATACGTGACAAATTAAATTCAAGTCTTATTGGCAGTAAGTTTTGCCCAACTGAA
ACTACCATGCTAACAAATATATTACTTAGAACATGTCCACAAGACCACAAACTAAACAGT
AAATGGAATATTCTCTGTGAAAAAATTAAGGGAATAATGTGA
Chromosome Location
2
Locus
2q11.2
External Identifiers
ResourceLink
UniProtKB IDQ9Y234
UniProtKB Entry NameLIPT_HUMAN
GenBank Protein ID4586380
GenBank Gene IDAB017566
GenAtlas IDLIPT1
HGNC IDHGNC:29569
General References
  1. Fujiwara K, Suzuki M, Okumachi Y, Okamura-Ikeda K, Fujiwara T, Takahashi E, Motokawa Y: Molecular cloning, structural characterization and chromosomal localization of human lipoyltransferase gene. Eur J Biochem. 1999 Mar;260(3):761-7. [PubMed:10103005]
  2. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed:15815621]
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334]
  4. Soreze Y, Boutron A, Habarou F, Barnerias C, Nonnenmacher L, Delpech H, Mamoune A, Chretien D, Hubert L, Bole-Feysot C, Nitschke P, Correia I, Sardet C, Boddaert N, Hamel Y, Delahodde A, Ottolenghi C, de Lonlay P: Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet J Rare Dis. 2013 Dec 17;8:192. doi: 10.1186/1750-1172-8-192. [PubMed:24341803]
  5. Tort F, Ferrer-Cortes X, Thio M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, Garcia-Villoria J, Acquaviva C, Vianey-Saban C, Artuch R, Garcia-Cazorla A, Briones P, Ribes A: Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. Hum Mol Genet. 2014 Apr 1;23(7):1907-15. doi: 10.1093/hmg/ddt585. Epub 2013 Nov 20. [PubMed:24256811]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00166Lipoic acidapproved, investigational, nutraceuticalunknownDetails