NUBPL
entrez
80224
canonical
uniprot
Q8TB37
canonical
ensembl
ENSG00000151413
resolver
ensp
ENSP00000281081
resolver
ensp
ENSP00000449918
resolver
ensp
ENSP00000790554
resolver
genesymbol
NUBPL
resolver
genesymbol_syn
C14orf127
resolver
hgnc
HGNC:20278
resolver
uniprot
B3KSK2
resolver
uniprot
B4DHZ1
resolver
uniprot
B4DWB0
resolver
uniprot
C9J751
resolver
uniprot
Q86TZ4
resolver
uniprot
Q9H9M2
resolver
uniprot
X5D2R5
resolver
uniprot_entry
B3KSK2_HUMAN
resolver
uniprot_entry
B4DWB0_HUMAN
resolver
uniprot_entry
NUBPL_HUMAN
resolver
uniprot_entry
X5D2R5_HUMAN
resolver
uniprot_sec
B4DHZ1
resolver
uniprot_sec
C9J751
resolver
uniprot_sec
Q86TZ4
resolver
uniprot_sec
Q9H9M2
resolver
amino_acid_sequence
MGIWQRLLLFGGVSLRAGGGATAPLGGSRAMVCGRQLSGAGSETLKQRRTQIMSRGLPKQKPIEGVKQVIVVASGKGGVGKSTTAVNLALALAANDSSKAIGLLDVDVYGPSVPKMMNLKGNPELSQSNLMRPLLNYGIACMSMGFLVEESEPVVWRGLMVMSAIEKLLRQVDWGQLDYLVVDMPPGTGDVQLSVSQNIPITGAVIVSTPQDIALMDAHKGAEMFRRVHVPVLGLVQNMSVFQCPKCKHKTHIFGADGARKLAQTLGLEVLGDIPLHLNIREASDTGQPIVFSQPESDEAKAYLRIAVEVVRRLPSPSE
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21) [MIM:618242]: 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. MC1DN21 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:20818383, ECO:0000269|PubMed:23553477}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Iron-sulfur cluster transfer protein involved in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:19752196). May deliver one or more Fe-S clusters to complex I subunits (PubMed:19752196). {ECO:0000269|PubMed:19752196}.
uniprot
proteins
mass_dalton
34083
uniprot
proteins
mutagenesis
MUTAGEN 244; /note="C->A: Defect in complex I assembly; when associated with A-247."; /evidence="ECO:0000269|PubMed:19752196"; MUTAGEN 247; /note="C->A: Defect in complex I assembly; when associated with A-244."; /evidence="ECO:0000269|PubMed:19752196
uniprot
proteins
protein_family
Mrp/NBP35 ATP-binding proteins family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19752196
uniprot
proteins
pubmed
20818383
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22072591
uniprot
proteins
pubmed
23553477
uniprot
proteins
sequence_length
319
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19752196}.
uniprot
proteins