| Entry |
|
| Gene name |
NDUFS1, CI-75Kd, CI-75k, PRO1304
|
| Definition |
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (EC:1.6.5.3 1.6.99.3)
|
| Orthology |
|
| Organism |
|
| Pathway |
| Oxidative phosphorylation | | Metabolic pathways | | Alzheimer's disease | | Parkinson's disease | | Huntington's disease |
|
| Module |
| NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria |
|
| Disease |
| Mitochondrial respiratory chain deficiencies (MRCD) |
|
| Class |
Metabolism; Energy metabolism; Oxidative phosphorylation [PATH: hsa00190]
Human Diseases; Neurodegenerative diseases; Alzheimer's disease [PATH: hsa05010]
Human Diseases; Neurodegenerative diseases; Parkinson's disease [PATH: hsa05012]
Human Diseases; Neurodegenerative diseases; Huntington's disease [PATH: hsa05016]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: UniProt: |
| Position |
2q33-q34
|
| AA seq |
691 aa  
MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQVVAACAMPV
MKGWNILTNSEKSKKAREGVMEFLLANHPLDCPICDQGGECDLQDQSMMFGNDRSRFLEG
KRAVEDKNIGPLVKTIMTRCIQCTRCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMS
ELSGNIIDICPVGALTSKPYAFTARPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPR
MHEDINEEWISDKTRFAYDGLKRQRLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGK
DVAAIAGGLVDAEALVALKDLLNRVDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIAGVEE
ADVVLLVGTNPRFEAPLFNARIRKSWLHNDLKVALIGSPVDLTYTYDHLGDSPKILQDIA
SGSHPFSQVLKEAKKPMVVLGSSALQRNDGAAILAAVSSIAQKIRMTSGVTGDWKVMNIL
HRIASQVAALDLGYKPGVEAIRKNPPKVLFLLGADGGCITRQDLPKDCFIIYQGHHGDVG
APIADVILPGAAYTEKSATYVNTEGRAQQTKVAVTPPGLAREDWKIIRALSEIAGMTLPY
DTLDQVRNRLEEVSPNLVRYDDIEGANYFQQANELSKLVNQQLLADPLVPPQLTIKDFYM
TDSISRASQTMAKCVKAVTEGAQAVEEPSIC |
| NT seq |
2076 nt  +upstreamnt +downstreamnt
atgttaaggatacctgtaagaaaggccttagtaggcctttctaagtctcctaaaggatgt
gttcgaacaactgccacagcagcaagcaacttgattgaagtatttgttgatggtcagtct
gtcatggtggaaccgggaacgaccgtcctccaagttgtagctgcttgtgccatgccagta
atgaagggttggaatatcctaacaaactcagaaaaatccaaaaaagccagggaaggtgtg
atggagttcttattagcaaatcacccattggactgtcctatttgtgaccagggaggtgaa
tgtgatctgcaggaccagtccatgatgtttggaaatgataggagccgatttttagagggg
aagcgtgctgtggaagacaagaacattgggccattggtaaagaccatcatgacaagatgt
atacagtgtactcgctgcatcaggtttgcaagtgagattgcaggagtagatgatttggga
acaacaggcagaggaaatgatatgcaagttggcacatacattgaaaagatgttcatgtct
gaactgtctgggaatatcattgatatctgccctgtaggtgccctaacctctaagccctat
gcctttactgcccggccttgggaaacaagaaagacagaatccattgatgtaatggatgcg
gttggaagtaatattgtggttagcacaagaactggagaagtgatgaggattttgccacgt
atgcatgaggacatcaatgaagagtggatctctgataaaaccagatttgcctatgatggg
ctaaaacgtcaaagacttaccgagccaatggtcagaaatgaaaaagggcttttaacctat
acttcttgggaggatgcgctctctcgcgtagctggaatgttgcagagttttcaaggcaaa
gatgtggcagcaattgcaggtggcttggtggatgctgaagccctggtagctctcaaagat
ttgcttaatagagtggactctgacaccttatgcactgaagaggtcttccccactgcagga
gctggcacagatttgcgttccaattatcttcttaatactacaattgctggtgtggaagag
gcagatgttgttcttctggttggtacaaacccacgttttgaggcaccactgtttaatgct
agaattcgaaagagctggctgcataatgacttaaaagtggcccttataggcagtccagtg
gacctcacttacacatatgaccacctgggagactcccccaaaattcttcaagacattgct
tcgggaagccatccatttagccaggtcctaaaggaagctaaaaaaccaatggtggtttta
ggcagttctgcactccaaagaaatgatggagcagcaattcttgcagctgtttctagcatt
gcacaaaagattcggatgactagtggtgttactggtgattggaaagttatgaatatcctt
cataggattgcaagtcaagtagctgctttggaccttggctataagcctggggtggaagca
attcggaagaaccctcccaaggtgctgtttctcctgggagcagatggaggttgtatcaca
cgacaggatttgccaaaggattgtttcattatttatcaaggacatcatggtgatgttggg
gctcccatagctgatgttattctcccaggagctgcttacacagagaagtctgctacatat
gtcaacactgagggtagagctcagcagactaaggtagcagtgacacctcctggcttggca
agagaagactggaaaattataagagcactctctgagattgctggaatgactcttccatat
gatactctggatcaagtaaggaacagattggaagaagtctctcctaatcttgttcgatat
gatgatattgaaggggctaattacttccagcaagcaaatgagctctcaaagctagtgaac
cagcagcttcttgctgacccacttgttccacctcagctaactataaaagacttctacatg
acagattcaattagcagagcctcacagacaatggccaaatgtgtcaaagctgtcacagag
ggtgcccaggcagtagaggaaccatccatatgctga |