Official symbol | NDUFB9 |
Gene id | 4715 |
Organism | Homo sapiens |
Official full symbol | NADH:ubiquinone oxidoreductase subunit B9 |
Gene type | protein-coding |
Also known as | B22, CI-B22, LYRM3, MC1DN24, UQOR22 |
Summary | The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. |
Genomic regions | Chromosome 8 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
NDUFB9-201 | ENST00000276689.8 | 691 | 179aa | Protein coding | CCDS6352 | Q9Y6M9 | NM_005005.3 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
NDUFB9-202 | ENST00000517367.1 | 636 | 168aa | Protein coding | CCDS83324 | E9PH64 | - | TSL:3, GENCODE basic, |
NDUFB9-208 | ENST00000606244.2 | 1565 | 138aa | Protein coding | - | A0A3B3IT57 | - | TSL:NA, GENCODE basic, |
NDUFB9-204 | ENST00000518008.5 | 789 | 178aa | Protein coding | - | E7EWZ0 | - | TSL:2, GENCODE basic, |
NDUFB9-210 | ENST00000677021.1 | 3541 | 179aa | Nonsense mediated decay | CCDS6352 | - | - | - |
NDUFB9-213 | ENST00000677822.1 | 2865 | 162aa | Nonsense mediated decay | - | - | - | - |
NDUFB9-206 | ENST00000522532.6 | 2794 | 221aa | Nonsense mediated decay | - | E9PF49 | - | TSL:2, |
NDUFB9-209 | ENST00000676713.1 | 2743 | 47aa | Nonsense mediated decay | - | - | - | - |
NDUFB9-214 | ENST00000677950.1 | 1423 | 47aa | Nonsense mediated decay | - | - | - | - |
NDUFB9-211 | ENST00000677095.1 | 3828 | No protein | Processed transcript | - | - | - | - |
NDUFB9-215 | ENST00000678753.1 | 1673 | No protein | Processed transcript | - | - | - | - |
NDUFB9-203 | ENST00000517830.1 | 320 | No protein | Processed transcript | - | - | - | TSL:3, |
NDUFB9-207 | ENST00000524241.2 | 4555 | No protein | Retained intron | - | - | - | TSL:2, |
NDUFB9-216 | ENST00000678801.1 | 3429 | No protein | Retained intron | - | - | - | - |
NDUFB9-212 | ENST00000677782.1 | 3288 | No protein | Retained intron | - | - | - | - |
NDUFB9-205 | ENST00000518657.6 | 2496 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | NDUFB9 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene NDUFB9 had been KO in hela cell line. |
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