| Name | NADH-ubiquinone oxidoreductase chain 4L |
|---|
| Synonyms | - 1.6.5.3
- MTND4L
- NADH dehydrogenase subunit 4L
- NADH4L
- ND4L
|
|---|
| Gene Name | MT-ND4L |
|---|
| Organism | Human |
|---|
| Amino acid sequence | >lcl|BSEQ0010230|NADH-ubiquinone oxidoreductase chain 4L
MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVP
IAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC |
|---|
| Number of residues | 98 |
|---|
| Molecular Weight | 10741.005 |
|---|
| Theoretical pI | 6.2 |
|---|
| GO Classification | Functions - NADH dehydrogenase (ubiquinone) activity
Processes - mitochondrial electron transport, NADH to ubiquinone
- small molecule metabolic process
- cellular metabolic process
- respiratory electron transport chain
Components - mitochondrial inner membrane
- integral component of membrane
- mitochondrial respiratory chain complex I
|
|---|
| General Function | Nadh dehydrogenase (ubiquinone) activity |
|---|
| Specific Function | Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). |
|---|
| Pfam Domain Function | |
|---|
| Transmembrane Regions | 1-21
29-49
58-78 |
|---|
| GenBank Protein ID | 337197 |
|---|
| UniProtKB ID | P03901 |
|---|
| UniProtKB Entry Name | NU4LM_HUMAN |
|---|
| Cellular Location | Mitochondrion membrane |
|---|
| Gene sequence | >lcl|BSEQ0010231|NADH-ubiquinone oxidoreductase chain 4L (MT-ND4L)
ATGCCCCTCATTTACATAAATATTATACTAGCATTTACCATCTCACTTCTAGGAATACTA
GTATATCGCTCACACCTCATATCCTCCCTACTATGCCTAGAAGGAATAATACTATCGCTG
TTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATTGTGCCT
ATTGCCATACTAGTCTTTGCCGCCTGCGAAGCAGCGGTGGGCCTAGCCCTACTAGTCTCA
ATCTCCAACACATATGGCCTAGACTACGTACATAACCTAAACCTACTCCAATGCTAA |
|---|
| GenBank Gene ID | J01415 |
|---|
| GeneCard ID | Not Available |
|---|
| GenAtlas ID | MT-ND4L |
|---|
| HGNC ID | HGNC:7460 |
|---|
| Chromosome Location | Not Available |
|---|
| Locus | - |
|---|
| References | - Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG: Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457-65. 7219534
- Horai S, Hayasaka K, Kondo R, Tsugane K, Takahata N: Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci U S A. 1995 Jan 17;92(2):532-6. 7530363
- Arnason U, Xu X, Gullberg A: Comparison between the complete mitochondrial DNA sequences of Homo and the common chimpanzee based on nonchimeric sequences. J Mol Evol. 1996 Feb;42(2):145-52. 8919866
- Moilanen JS, Finnila S, Majamaa K: Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. Mol Biol Evol. 2003 Dec;20(12):2132-42. Epub 2003 Aug 29. 12949126
- Ingman M, Kaessmann H, Paabo S, Gyllensten U: Mitochondrial genome variation and the origin of modern humans. Nature. 2000 Dec 7;408(6813):708-13. 11130070
- Ingman M, Gyllensten U: Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res. 2003 Jul;13(7):1600-6. 12840039
- Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ: Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Legal Med. 2004 Jun;118(3):137-46. Epub 2004 Feb 4. 14760490
- Chomyn A, Mariottini P, Cleeter MW, Ragan CI, Matsuno-Yagi A, Hatefi Y, Doolittle RF, Attardi G: Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. Nature. 1985 Apr 18-24;314(6012):592-7. 3921850
- Marzuki S, Noer AS, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E: Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet. 1991 Dec;88(2):139-45. 1757091
- Brown MD, Torroni A, Reckord CL, Wallace DC: Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum Mutat. 1995;6(4):311-25. 8680405
- Polyak K, Li Y, Zhu H, Lengauer C, Willson JK, Markowitz SD, Trush MA, Kinzler KW, Vogelstein B: Somatic mutations of the mitochondrial genome in human colorectal tumours. Nat Genet. 1998 Nov;20(3):291-3. 9806551
|
|---|
