Mitochondrial ornithine transporter 1
Details
- Name
- Mitochondrial ornithine transporter 1
- Synonyms
- ORC1
- ORNT1
- Solute carrier family 25 member 15
- Gene Name
- SLC25A15
- UniProtKB Entry
- Q9Y619Swiss-Prot
- Organism
- Humans
- NCBI Taxonomy ID
- 9606
- Amino acid sequence
>lcl|BSEQ0010197|Mitochondrial ornithine transporter 1 MKSNPAIQAAIDLTAGAAGGTACVLTGQPFDTMKVKMQTFPDLYRGLTDCCLKTYSQVGF RGFYKGTSPALIANIAENSVLFMCYGFCQQVVRKVAGLDKQAKLSDLQNAAAGSFASAFA ALVLCPTELVKCRLQTMYEMETSGKIAKSQNTVWSVIKSILRKDGPLGFYHGLSSTLLRE VPGYFFFFGGYELSRSFFASGRSKDELGPVPLMLSGGVGGICLWLAVYPVDCIKSRIQVL SMSGKQAGFIRTFINVVKNEGITALYSGLKPTMIRAFPANGALFLAYEYSRKLMMNQLEA Y
- Number of residues
- 301
- Molecular Weight
- 32735.96
- Theoretical pI
- 9.43
- GO Classification
- FunctionsL-ornithine transmembrane transporter activityProcessesurea cycleComponentsmitochondrial inner membrane
- General Function
- Mitochondrial ornithine-citrulline antiporter (Probable) (PubMed:12807890, PubMed:22262851). Catalyzes the exchange between cytosolic ornithine and mitochondrial citrulline plus an H(+), the proton compensates the positive charge of ornithine thus leading to an electroneutral transport. Plays a crucial role in the urea cycle, by connecting the cytosolic and the intramitochondrial reactions of the urea cycle (Probable) (PubMed:12807890, PubMed:22262851). Lysine and arginine are also transported by the antiport mechanism (Probable) (PubMed:12807890). In addition, catalyzes an electroneutral exchange of ornithine or lysine for H(+), a reaction driven by the pH gradient across the inner membrane (By similarity)
- Specific Function
- Antiporter activity
- Pfam Domain Function
- Mito_carr (PF00153)
- Signal Regions
- Not Available
- Transmembrane Regions
- 5-25 68-88 110-130 168-188 207-227 237-257
- Cellular Location
- Mitochondrion inner membrane
- Gene sequence
>lcl|BSEQ0010198|Mitochondrial ornithine transporter 1 (SLC25A15) ATGAAATCCAATCCTGCTATCCAGGCTGCCATTGACCTCACAGCGGGGGCTGCAGGAGGT ACAGCATGTGTACTGACCGGGCAGCCCTTTGACACAATGAAAGTGAAGATGCAGACGTTC CCTGACCTGTACCGGGGCCTCACCGACTGCTGCCTGAAGACTTACTCCCAGGTGGGCTTC CGTGGCTTCTACAAGGGTACCAGTCCAGCACTAATCGCCAACATCGCTGAGAACTCAGTC CTCTTCATGTGCTACGGCTTCTGCCAGCAGGTGGTGCGGAAAGTGGCTGGATTGGACAAG CAGGCAAAGCTGAGTGATCTGCAGAATGCAGCCGCCGGTTCCTTCGCCTCTGCCTTTGCT GCACTGGTGCTCTGCCCCACGGAGCTCGTGAAGTGCCGGCTGCAGACCATGTATGAGATG GAGACATCAGGGAAGATAGCCAAGAGCCAGAATACAGTGTGGTCTGTCATCAAAAGTATT CTTAGGAAAGATGGCCCCTTGGGGTTCTACCATGGACTCTCAAGCACTTTACTTCGAGAA GTACCAGGCTATTTCTTCTTCTTCGGTGGCTATGAACTGAGCCGGTCCTTTTTTGCATCA GGGAGATCAAAAGATGAATTAGGCCCTGTACCTTTGATGTTAAGTGGTGGAGTTGGTGGG ATTTGCCTCTGGCTTGCGGTATACCCAGTGGATTGTATCAAATCCAGAATTCAAGTTCTT TCCATGTCTGGAAAACAGGCAGGATTTATCAGAACCTTTATAAATGTTGTGAAAAATGAA GGAATAACGGCCTTATATTCTGGACTGAAACCTACTATGATTCGAGCATTCCCTGCCAAT GGAGCACTCTTTTTGGCCTACGAATATAGCAGGAAGTTGATGATGAACCAGTTGGAAGCA TACTGA
- Chromosome Location
- 13
- Locus
- 13q14.11
- External Identifiers
Resource Link UniProtKB ID Q9Y619 UniProtKB Entry Name ORNT1_HUMAN GenBank Protein ID 5565862 GenBank Gene ID AF112968 GeneCard ID SLC25A15 GenAtlas ID SLC25A15 HGNC ID HGNC:10985 KEGG ID hsa:10166 NCBI Gene ID 10166 - General References
- Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D: Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet. 1999 Jun;22(2):151-8. [Article]
- Fiermonte G, Dolce V, David L, Santorelli FM, Dionisi-Vici C, Palmieri F, Walker JE: The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. J Biol Chem. 2003 Aug 29;278(35):32778-83. Epub 2003 Jun 13. [Article]
- Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X, Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S, Gu J: Large-scale cDNA transfection screening for genes related to cancer development and progression. Proc Natl Acad Sci U S A. 2004 Nov 2;101(44):15724-9. Epub 2004 Oct 21. [Article]
- Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME, Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J, Ross MT: The DNA sequence and analysis of human chromosome 13. Nature. 2004 Apr 1;428(6982):522-8. [Article]
- 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. [Article]
- Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [Article]
- Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [Article]
- Tsujino S, Kanazawa N, Ohashi T, Eto Y, Saito T, Kira J, Yamada T: Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Ann Neurol. 2000 May;47(5):625-31. [Article]
- Salvi S, Dionisi-Vici C, Bertini E, Verardo M, Santorelli FM: Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Hum Mutat. 2001 Nov;18(5):460. [Article]
- Salvi S, Santorelli FM, Bertini E, Boldrini R, Meli C, Donati A, Burlina AB, Rizzo C, Di Capua M, Fariello G, Dionisi-Vici C: Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Neurology. 2001 Sep 11;57(5):911-4. [Article]
- Miyamoto T, Kanazawa N, Hayakawa C, Tsujino S: A novel mutation, P126R, in a Japanese patient with HHH syndrome. Pediatr Neurol. 2002 Jan;26(1):65-7. [Article]
- Fecarotta S, Parenti G, Vajro P, Zuppaldi A, Della Casa R, Carbone MT, Correra A, Torre G, Riva S, Dionisi-Vici C, Santorelli FM, Andria G: HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. J Inherit Metab Dis. 2006 Feb;29(1):186-9. [Article]
- Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarria L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM: Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. Hum Mutat. 2009 May;30(5):741-8. doi: 10.1002/humu.20930. [Article]
Associated Data
- Bio-Entities
Bio-Entity Type Mitochondrial ornithine transporter 1 (Humans) protein primary- Drug Relations
Drug Drug group Pharmacological action? Type Actions Details Ornithine approved, nutraceutical unknown target Details