NDUFB3
entrez
4709
canonical
uniprot
O43676
canonical
ensembl
ENSG00000119013
resolver
ensp
ENSP00000237889
resolver
ensp
ENSP00000401834
resolver
ensp
ENSP00000407336
resolver
ensp
ENSP00000410600
resolver
ensp
ENSP00000507925
resolver
ensp
ENSP00000508132
resolver
ensp
ENSP00000508208
resolver
ensp
ENSP00000548989
resolver
ensp
ENSP00000548990
resolver
ensp
ENSP00000548991
resolver
ensp
ENSP00000598355
resolver
ensp
ENSP00000598356
resolver
ensp
ENSP00000598357
resolver
ensp
ENSP00000598358
resolver
ensp
ENSP00000598359
resolver
ensp
ENSP00000598360
resolver
ensp
ENSP00000598361
resolver
ensp
ENSP00000598362
resolver
ensp
ENSP00000598363
resolver
ensp
ENSP00000624042
resolver
ensp
ENSP00000624043
resolver
enst
ENST00000237889
resolver
enst
ENST00000433898
resolver
enst
ENST00000450023
resolver
enst
ENST00000454214
resolver
enst
ENST00000682325
resolver
enst
ENST00000684175
resolver
enst
ENST00000684420
resolver
enst
ENST00000878930
resolver
enst
ENST00000878931
resolver
enst
ENST00000878932
resolver
enst
ENST00000928296
resolver
enst
ENST00000928297
resolver
enst
ENST00000928298
resolver
enst
ENST00000928299
resolver
enst
ENST00000928300
resolver
enst
ENST00000928301
resolver
enst
ENST00000928302
resolver
enst
ENST00000928303
resolver
enst
ENST00000928304
resolver
enst
ENST00000953983
resolver
enst
ENST00000953984
resolver
genesymbol
NDUFB3
resolver
hgnc
HGNC:7698
resolver
uniprot
Q6IB80
resolver
uniprot_entry
NDUB3_HUMAN
resolver
uniprot_sec
Q6IB80
resolver
amino_acid_sequence
MAHEHGHEHGHHKMELPDYRQWKIEGTPLETIQKKLAAKGLRDPWGRNEAWRYMGGFAKSVSFSDVFFKGFKWGFAAFVVAVGAEYYLESLNKDKKHH
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 25 (MC1DN25) [MIM:618246]: A 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. MC1DN25 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:22499348, ECO:0000269|PubMed:27091925}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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. {ECO:0000269|PubMed:27626371}.
uniprot
proteins
mass_dalton
11402
uniprot
proteins
mutagenesis
MUTAGEN 5..9; /note="HGHEH->RGHER: Abolished histidine methylation by METTL9."; /evidence="ECO:0000269|PubMed:33563959
uniprot
proteins
post_translational_modification
PTM: Methylation at His residues by METTL9 enhances complex I-mediated mitochondrial respiration. {ECO:0000269|PubMed:33563959}.
uniprot
proteins
protein_family
Complex I NDUFB3 subunit family
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22499348
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27091925
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
33563959
uniprot
proteins
pubmed
9425316
uniprot
proteins
pubmed
9878551
uniprot
proteins
sequence_length
98
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Single-pass membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 66..88; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins