| Identification |
|---|
| HMDB Protein ID
| HMDBP00132 |
| Secondary Accession Numbers
| |
| Name
| NADH-ubiquinone oxidoreductase chain 4L |
| Synonyms
|
- NADH dehydrogenase subunit 4L
|
| Gene Name
| MT-ND4L |
| Protein Type
| Unknown |
| Biological Properties |
|---|
| General Function
| Involved in oxidoreductase activity, acting on NADH or NADPH |
| 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).
|
| Pathways
|
- Oxidative phosphorylation
- Parkinson disease
|
| Reactions
|
| NADH + Coenzyme Q10 → NAD + QH(2) |
details
|
| QH2 + Acceptor → Ubiquinone-2 + Reduced acceptor |
details
|
|
| GO Classification
|
| Biological Process |
| small molecule metabolic process |
| mitochondrial electron transport, NADH to ubiquinone |
| Cellular Component |
| mitochondrial respiratory chain complex I |
| integral to membrane |
| Function |
| catalytic activity |
| oxidoreductase activity |
| oxidoreductase activity, acting on nadh or nadph |
| Molecular Function |
| NADH dehydrogenase (ubiquinone) activity |
| Process |
| metabolic process |
| generation of precursor metabolites and energy |
| electron transport chain |
| respiratory electron transport chain |
| atp synthesis coupled electron transport |
| cellular metabolic process |
| oxidation reduction |
|
| Cellular Location
|
- Mitochondrion membrane
- Multi-pass membrane protein
|
| Gene Properties |
|---|
| Chromosome Location
| Not Available |
| Locus
| Not Available |
| SNPs
| MT-ND4L |
| Gene Sequence
|
>297 bp
ATGCCCCTCATTTACATAAATATTATACTAGCATTTACCATCTCACTTCTAGGAATACTA
GTATATCGCTCACACCTCATATCCTCCCTACTATGCCTAGAAGGAATAATACTATCGCTG
TTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATTGTGCCT
ATTGCCATACTAGTCTTTGCCGCCTGCGAAGCAGCGGTGGGCCTAGCCCTACTAGTCTCA
ATCTCCAACACATATGGCCTAGACTACGTACATAACCTAAACCTACTCCAATGCTAA
|
| Protein Properties |
|---|
| Number of Residues
| 98 |
| Molecular Weight
| 10741.005 |
| Theoretical pI
| 6.209 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>NADH-ubiquinone oxidoreductase chain 4L
MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVP
IAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC
|
| External Links |
|---|
| GenBank ID Protein
| Not Available |
| UniProtKB/Swiss-Prot ID
| P03901 |
| UniProtKB/Swiss-Prot Entry Name
| NU4LM_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| J01415 |
| GeneCard ID
| MT-ND4L |
| GenAtlas ID
| MT-ND4L |
| HGNC ID
| HGNC:7460 |
| References |
|---|
| General 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. [PubMed: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. [PubMed:7530363 ]
- 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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed:1757091 ]
- 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. [PubMed:8919866 ]
- 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. [PubMed: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. [PubMed:9806551 ]
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