Q8N183 · NDUF2_HUMAN
- ProteinNADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
- GeneNDUFAF2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids169 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974).
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 (PubMed:16200211, PubMed:27626371).
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 (PubMed:16200211, PubMed:27626371).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrion | |
Molecular Function | protein-containing complex binding | |
Biological Process | mitochondrial respiratory chain complex I assembly | |
Biological Process | negative regulation of insulin secretion involved in cellular response to glucose stimulus |
Keywords
- Molecular function
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameNADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8N183
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 10 (MC1DN10)
- Note
- DescriptionA form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN10 transmission pattern is consistent with autosomal recessive inheritance.
- See alsoMIM:618233
Natural variants in MC1DN10
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_081422 | 3-169 | missing | in MC1DN10 | |
VAR_081423 | 38-169 | missing | in MC1DN10; patient cells homozygous for the variant do not express detectable amounts of protein; complex I assembly is altered and activity is severely reduced in patient cells compared to control | |
VAR_081424 | 47-169 | missing | in MC1DN10 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_081422 | 3-169 | in MC1DN10 | |||
Sequence: Missing | ||||||
Natural variant | VAR_081423 | 38-169 | in MC1DN10; patient cells homozygous for the variant do not express detectable amounts of protein; complex I assembly is altered and activity is severely reduced in patient cells compared to control | |||
Sequence: Missing | ||||||
Natural variant | VAR_081424 | 47-169 | in MC1DN10 | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 221 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, transit peptide, modified residue (large scale data), modified residue.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000020054 | ?-169 | UniProt | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 | |||
Sequence: MGWSQDLFRALWRSLSREVKEHVGTDQFGNKYYYIPQYKNWRGQTIREKRIVEAANKKEVDYEAGDIPTEWEAWIRRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEELLPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQPGSWMPRDGKSHNQ | |||||||
Transit peptide | 1-? | UniProt | Mitochondrion | ||||
Modified residue (large scale data) | 116 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 134 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 134 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 137 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue (large scale data) | 149 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts.
Induction
By MYC. Direct transcriptional target of MYC.
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8N183 | CYB5B O43169 | 3 | EBI-2682365, EBI-1058710 | |
BINARY | Q8N183 | LAT O43561-2 | 3 | EBI-2682365, EBI-8070286 | |
BINARY | Q8N183 | LPAR3 Q9UBY5 | 3 | EBI-2682365, EBI-12033434 | |
BINARY | Q8N183 | SEC22B O75396 | 3 | EBI-2682365, EBI-1058865 | |
BINARY | Q8N183 | SMIM1 B2RUZ4 | 3 | EBI-2682365, EBI-12188413 | |
BINARY | Q8N183 | SPG21 Q9NZD8 | 3 | EBI-2682365, EBI-742688 | |
BINARY | Q8N183 | STX8 Q9UNK0 | 3 | EBI-2682365, EBI-727240 | |
BINARY | Q8N183 | TMEM201 Q5SNT2-2 | 3 | EBI-2682365, EBI-11994282 | |
BINARY | Q8N183 | TMEM97 Q5BJF2 | 3 | EBI-2682365, EBI-12111910 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 116-169 | Disordered | ||||
Sequence: TSEELLPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQPGSWMPRDGKSHNQ | ||||||
Compositional bias | 146-169 | Polar residues | ||||
Sequence: APSSTGKTFQPGSWMPRDGKSHNQ |
Sequence similarities
Belongs to the complex I NDUFA12 subunit family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length169
- Mass (Da)19,856
- Last updated2002-10-01 v1
- Checksum3D72AE8B5942E0FA
Computationally mapped potential isoform sequences
There are 5 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
D6RA56 | D6RA56_HUMAN | NDUFAF2 | 60 | ||
H0YA50 | H0YA50_HUMAN | NDUFAF2 | 51 | ||
A0A7I2YQX2 | A0A7I2YQX2_HUMAN | NDUFAF2 | 177 | ||
A0A7I2V3X5 | A0A7I2V3X5_HUMAN | NDUFAF2 | 67 | ||
A0A7I2V4Z7 | A0A7I2V4Z7_HUMAN | NDUFAF2 | 71 |
Features
Showing features for compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 146-169 | Polar residues | ||||
Sequence: APSSTGKTFQPGSWMPRDGKSHNQ |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB183433 EMBL· GenBank· DDBJ | BAD91205.1 EMBL· GenBank· DDBJ | mRNA | ||
AK291296 EMBL· GenBank· DDBJ | BAF83985.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471123 EMBL· GenBank· DDBJ | EAW55008.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC001753 EMBL· GenBank· DDBJ | AAH01753.2 EMBL· GenBank· DDBJ | mRNA | ||
BC033965 EMBL· GenBank· DDBJ | AAH33965.1 EMBL· GenBank· DDBJ | mRNA |