NDUFB11
entrez
54539
canonical
uniprot
Q9NX14
canonical
ensembl
ENSG00000147123
resolver
ensp
ENSP00000367042
resolver
ensp
ENSP00000509334
resolver
genesymbol
NDUFB11
resolver
hgnc
HGNC:20372
resolver
uniprot
Q5JRR3
resolver
uniprot
Q5JRR4
resolver
uniprot
Q6IAB6
resolver
uniprot
Q8WZ96
resolver
uniprot
Q9BXX9
resolver
uniprot_entry
NDUBB_HUMAN
resolver
uniprot_sec
Q5JRR3
resolver
uniprot_sec
Q5JRR4
resolver
uniprot_sec
Q6IAB6
resolver
uniprot_sec
Q8WZ96
resolver
uniprot_sec
Q9BXX9
resolver
amino_acid_sequence
MAAGLFGLSARRLLAAAATRGLPAARVRWESSFSRTVVAPSAVAGKRPPEPTTPWQEDPEPEDENLYEKNPDSHGYDKDPVLDVWNMRLVFFFGVSIILVLGSTFVAYLPDYRMKEWSRREAERLVKYREANGLPIMESNCFDPSKIQLPEDE
uniprot
proteins
disease_involvement
DISEASE: Linear skin defects with multiple congenital anomalies 3 (LSDMCA3) [MIM:300952]: A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA3 clinical features include linear skin defects on face and neck at birth, lacrimal duct atresia, myopia, nystagmus, strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum agenesis, and dilation of lateral ventricles. {ECO:0000269|PubMed:25772934}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial complex I deficiency, nuclear type 30 (MC1DN30) [MIM:301021]: 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. {ECO:0000269|PubMed:26741492}. Note=The disease may be 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
17317
uniprot
proteins
protein_family
Complex I NDUFB11 subunit family
uniprot
proteins
pubmed
10544803
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25772934
uniprot
proteins
pubmed
25921236
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
31206022
uniprot
proteins
sequence_length
153
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:31206022, ECO:0000305|PubMed:12611891}; Single-pass membrane protein {ECO:0000305}. Note=The interaction with BCAP31 mediates mitochondria localization. {ECO:0000269|PubMed:31206022}.
uniprot
proteins
transmembrane_region
TRANSMEM 89..109; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins