RTN4IP1
entrez
84816
canonical
uniprot
Q8WWV3
canonical
ensembl
ENSG00000130347
resolver
ensp
ENSP00000358059
resolver
ensp
ENSP00000725402
resolver
genesymbol
RTN4IP1
resolver
genesymbol_syn
NIMP
resolver
hgnc
HGNC:18647
resolver
uniprot
Q8N9B3
resolver
uniprot
Q8WZ66
resolver
uniprot
Q9BRA4
resolver
uniprot_entry
RT4I1_HUMAN
resolver
uniprot_sec
Q8N9B3
resolver
uniprot_sec
Q8WZ66
resolver
uniprot_sec
Q9BRA4
resolver
amino_acid_sequence
MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMPAWVIDKYGKNEVLRFTQNMMMPIIHYPNEVIVKVHAASVNPIDVNMRSGYGATALNMKRDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVVVSGNEVSHKPKSLTHTQAASLPYVALTAWSAINKVGGLNDKNCTGKRVLILGASGGVGTFAIQVMKAWDAHVTAVCSQDASELVRKLGADDVIDYKSGSVEEQLKSLKPFDFILDNVGGSTETWAPDFLKKWSGATYVTLVTPFLLNMDRLGIADGMLQTGVTVGSKALKHFWKGVHYRWAFFMASGPCLDDIAELVDAGKIRPVIEQTFPFSKVPEAFLKVERGHARGKTVINVV
uniprot
proteins
disease_involvement
DISEASE: Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures (OPA10) [MIM:616732]: An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA10 patients may also manifest mild ataxia, mild intellectual disability and, rarely, generalized seizures. {ECO:0000269|PubMed:26593267, ECO:0000269|PubMed:28638143, ECO:0000269|PubMed:29181510, ECO:0000269|PubMed:31077085, ECO:0000269|PubMed:32392611, ECO:0000269|PubMed:33037779, ECO:0000269|PubMed:33136666, ECO:0000269|PubMed:33315831, ECO:0000269|PubMed:35439212, ECO:0000269|PubMed:36231115, ECO:0000269|PubMed:37884807, ECO:0000269|PubMed:38224077}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.6.5.-
uniprot
proteins
function
FUNCTION: NAD(P)H oxidoreductase involved in the ubiquinone biosynthetic pathway (PubMed:37884807). Required for the O-methyltransferase activity of COQ3 (PubMed:37884807). Able to catalyze the oxidoreduction of 3-demethylubiquinone into 3-demethylubiquinol in vitro (PubMed:37884807). However, it is unclear if 3-demethylubiquinone constitutes a substrate in vivo (PubMed:37884807). May also play a role in the regulation of retinal ganglion cell (RGC) neurite outgrowth, and hence in the development of the inner retina and optic nerve (By similarity). Appears to be a potent inhibitor of regeneration following spinal cord injury (By similarity). {ECO:0000250|UniProtKB:Q924D0, ECO:0000269|PubMed:37884807}.
uniprot
proteins
mass_dalton
43590
uniprot
proteins
mutagenesis
MUTAGEN 215; /note="G->A: Abolished NAD(P)H oxidoreductase activity."; /evidence="ECO:0000269|PubMed:37884807
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis. {ECO:0000269|PubMed:37884807}.
uniprot
proteins
protein_family
Quinone oxidoreductase subfamily
uniprot
proteins
protein_family
Zinc-containing alcohol dehydrogenase family
uniprot
proteins
pubmed
12067236
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26593267
uniprot
proteins
pubmed
28638143
uniprot
proteins
pubmed
29181510
uniprot
proteins
pubmed
31077085
uniprot
proteins
pubmed
32392611
uniprot
proteins
pubmed
33037779
uniprot
proteins
pubmed
33136666
uniprot
proteins
pubmed
33315831
uniprot
proteins
pubmed
35439212
uniprot
proteins
pubmed
36231115
uniprot
proteins
pubmed
37884807
uniprot
proteins
pubmed
38224077
uniprot
proteins
sequence_length
396
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:37884807}. Mitochondrion outer membrane {ECO:0000269|PubMed:12067236, ECO:0000269|PubMed:26593267}. Note=Mainly localizes to the mitochondrial matrix (PubMed:37884807). Also colocalizes with the endoplasmic reticulum HSPA5 at spots corresponding to contacts with mitochondria (PubMed:26593267). {ECO:0000269|PubMed:26593267, ECO:0000269|PubMed:37884807}.
uniprot
proteins