NDUFAF1
entrez
51103
canonical
uniprot
Q9Y375
canonical
ensembl
ENSG00000137806
resolver
ensp
ENSP00000260361
resolver
ensp
ENSP00000453944
resolver
ensp
ENSP00000523361
resolver
ensp
ENSP00000523362
resolver
ensp
ENSP00000523363
resolver
ensp
ENSP00000523365
resolver
ensp
ENSP00000523368
resolver
ensp
ENSP00000523369
resolver
ensp
ENSP00000523371
resolver
ensp
ENSP00000523372
resolver
ensp
ENSP00000598330
resolver
ensp
ENSP00000598331
resolver
ensp
ENSP00000664051
resolver
ensp
ENSP00000664055
resolver
ensp
ENSP00000664056
resolver
enst
ENST00000260361
resolver
enst
ENST00000560978
resolver
enst
ENST00000853302
resolver
enst
ENST00000853303
resolver
enst
ENST00000853304
resolver
enst
ENST00000853306
resolver
enst
ENST00000853309
resolver
enst
ENST00000853310
resolver
enst
ENST00000853312
resolver
enst
ENST00000853313
resolver
enst
ENST00000928271
resolver
enst
ENST00000928272
resolver
genesymbol
NDUFAF1
resolver
genesymbol_syn
CIA30
resolver
hgnc
HGNC:18828
resolver
uniprot
Q9BVZ5
resolver
uniprot_entry
CIA30_HUMAN
resolver
uniprot_sec
Q9BVZ5
resolver
amino_acid_sequence
MALVHKLLRGTYFLRKFSKPTSALYPFLGIRFAEYSSSLQKPVASPGKASSQRKTEGDLQGDHQKEVALDITSSEEKPDVSFDKAIRDEAIYHFRLLKDEIVDHWRGPEGHPLHEVLLEQAKVVWQFRGKEDLDKWTVTSDKTIGGRSEVFLKMGKNNQSALLYGTLSSEAPQDGESTRSGYCAMISRIPRGAFERKMSYDWSQFNTLYLRVRGDGRPWMVNIKEDTDFFQRTNQMYSYFMFTRGGPYWQEVKIPFSKFFFSNRGRIRDVQHELPLDKISSIGFTLADKVDGPFFLEIDFIGVFTDPAHTEEFAYENSPELNPRLFK
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 11 (MC1DN11) [MIM:618234]: 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. MC1DN11 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:17557076, ECO:0000269|PubMed:21931170}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As part of the MCIA complex, involved in the assembly of the mitochondrial complex I. {ECO:0000269|PubMed:16218961, ECO:0000269|PubMed:17557076, ECO:0000269|PubMed:32320651}.
uniprot
proteins
mass_dalton
37764
uniprot
proteins
protein_family
CIA30 family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11935339
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16218961
uniprot
proteins
pubmed
17344420
uniprot
proteins
pubmed
17557076
uniprot
proteins
pubmed
20816094
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21931170
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
32320651
uniprot
proteins
pubmed
33753518
uniprot
proteins
sequence_length
327
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16218961, ECO:0000269|PubMed:17557076}. Mitochondrion matrix {ECO:0000305|PubMed:17557076}. Note=Peripherally associated with the matrix face of the mitochondrial inner membrane. {ECO:0000305|PubMed:17557076}.
uniprot
proteins