RTN4IP1 (reticulon 4 interacting protein 1)

Gene

• Entrez ID: 84816
• Gene name: Reticulon 4 interacting protein 1
• Gene symbol: RTN4IP1
• Synonyms: NIMP, OPA10
• Chromosome: 6
• Chromosome location: 6q21
• Summary: This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this ge

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200457692	T>A,C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs372054380	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1582392486	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1322207	hsa-miR-10a	CLIP-seq
MIRT1322208	hsa-miR-10b	CLIP-seq
MIRT1322209	hsa-miR-1227	CLIP-seq
MIRT1322210	hsa-miR-1252	CLIP-seq
MIRT1322211	hsa-miR-1262	CLIP-seq
MIRT1322212	hsa-miR-1293	CLIP-seq
MIRT1322213	hsa-miR-199a-5p	CLIP-seq
MIRT1322214	hsa-miR-199b-5p	CLIP-seq
MIRT1322215	hsa-miR-219-5p	CLIP-seq
MIRT1322216	hsa-miR-3122	CLIP-seq
MIRT1322217	hsa-miR-3160-3p	CLIP-seq
MIRT1322218	hsa-miR-3165	CLIP-seq
MIRT1322219	hsa-miR-339-5p	CLIP-seq
MIRT1322220	hsa-miR-3611	CLIP-seq
MIRT1322221	hsa-miR-3689a-3p	CLIP-seq
MIRT1322222	hsa-miR-3689c	CLIP-seq
MIRT1322223	hsa-miR-3913-5p	CLIP-seq
MIRT1322224	hsa-miR-4252	CLIP-seq
MIRT1322225	hsa-miR-4302	CLIP-seq
MIRT1322226	hsa-miR-4421	CLIP-seq
MIRT1322227	hsa-miR-4433	CLIP-seq
MIRT1322228	hsa-miR-4445	CLIP-seq
MIRT1322229	hsa-miR-4483	CLIP-seq
MIRT1322230	hsa-miR-4487	CLIP-seq
MIRT1322231	hsa-miR-4499	CLIP-seq
MIRT1322232	hsa-miR-4513	CLIP-seq
MIRT1322233	hsa-miR-4540	CLIP-seq
MIRT1322234	hsa-miR-4676-5p	CLIP-seq
MIRT1322235	hsa-miR-4679	CLIP-seq
MIRT1322236	hsa-miR-4701-3p	CLIP-seq
MIRT1322237	hsa-miR-4725-5p	CLIP-seq
MIRT1322238	hsa-miR-4782-3p	CLIP-seq
MIRT1322239	hsa-miR-4793-3p	CLIP-seq
MIRT1322240	hsa-miR-504	CLIP-seq
MIRT1322241	hsa-miR-508-3p	CLIP-seq
MIRT1322242	hsa-miR-508-5p	CLIP-seq
MIRT1322243	hsa-miR-518a-5p	CLIP-seq
MIRT1322244	hsa-miR-527	CLIP-seq
MIRT1322245	hsa-miR-558	CLIP-seq
MIRT1322246	hsa-miR-575	CLIP-seq
MIRT1322247	hsa-miR-593	CLIP-seq
MIRT1322248	hsa-miR-642b	CLIP-seq
MIRT1322249	hsa-miR-661	CLIP-seq
MIRT1322250	hsa-miR-665	CLIP-seq
MIRT1322251	hsa-miR-766	CLIP-seq
MIRT1322252	hsa-miR-876-3p	CLIP-seq
MIRT1322207	hsa-miR-10a	CLIP-seq
MIRT1322208	hsa-miR-10b	CLIP-seq
MIRT1322219	hsa-miR-339-5p	CLIP-seq
MIRT1322226	hsa-miR-4421	CLIP-seq
MIRT1322233	hsa-miR-4540	CLIP-seq
MIRT1322237	hsa-miR-4725-5p	CLIP-seq
MIRT1322240	hsa-miR-504	CLIP-seq
MIRT1322247	hsa-miR-593	CLIP-seq
MIRT2095635	hsa-miR-628-3p	CLIP-seq
MIRT1322248	hsa-miR-642b	CLIP-seq
MIRT1322209	hsa-miR-1227	CLIP-seq
MIRT1322211	hsa-miR-1262	CLIP-seq
MIRT2320090	hsa-miR-1587	CLIP-seq
MIRT1322215	hsa-miR-219-5p	CLIP-seq
MIRT1322217	hsa-miR-3160-3p	CLIP-seq
MIRT1322218	hsa-miR-3165	CLIP-seq
MIRT1322224	hsa-miR-4252	CLIP-seq
MIRT1322227	hsa-miR-4433	CLIP-seq
MIRT2320091	hsa-miR-4437	CLIP-seq
MIRT1322228	hsa-miR-4445	CLIP-seq
MIRT1322230	hsa-miR-4487	CLIP-seq
MIRT1322233	hsa-miR-4540	CLIP-seq
MIRT2320092	hsa-miR-4674	CLIP-seq
MIRT1322235	hsa-miR-4679	CLIP-seq
MIRT1322236	hsa-miR-4701-3p	CLIP-seq
MIRT2320093	hsa-miR-4720-3p	CLIP-seq
MIRT1322238	hsa-miR-4782-3p	CLIP-seq
MIRT1322239	hsa-miR-4793-3p	CLIP-seq
MIRT1322241	hsa-miR-508-3p	CLIP-seq
MIRT1322242	hsa-miR-508-5p	CLIP-seq
MIRT2320094	hsa-miR-548g	CLIP-seq
MIRT1322245	hsa-miR-558	CLIP-seq
MIRT1322248	hsa-miR-642b	CLIP-seq
MIRT1322249	hsa-miR-661	CLIP-seq
MIRT1322250	hsa-miR-665	CLIP-seq
MIRT1322251	hsa-miR-766	CLIP-seq
MIRT1322207	hsa-miR-10a	CLIP-seq
MIRT1322208	hsa-miR-10b	CLIP-seq
MIRT2615916	hsa-miR-1323	CLIP-seq
MIRT1322219	hsa-miR-339-5p	CLIP-seq
MIRT2615917	hsa-miR-3613-3p	CLIP-seq
MIRT1322226	hsa-miR-4421	CLIP-seq
MIRT2615918	hsa-miR-4661-5p	CLIP-seq
MIRT2615919	hsa-miR-4684-5p	CLIP-seq
MIRT1322237	hsa-miR-4725-5p	CLIP-seq
MIRT1322240	hsa-miR-504	CLIP-seq
MIRT2615920	hsa-miR-548a-3p	CLIP-seq
MIRT2615921	hsa-miR-548ae	CLIP-seq
MIRT2615922	hsa-miR-548aj	CLIP-seq
MIRT2615923	hsa-miR-548am	CLIP-seq
MIRT2615924	hsa-miR-548c-3p	CLIP-seq
MIRT2615925	hsa-miR-548e	CLIP-seq
MIRT2615926	hsa-miR-548f	CLIP-seq
MIRT2320094	hsa-miR-548g	CLIP-seq
MIRT2615927	hsa-miR-548o	CLIP-seq
MIRT2615928	hsa-miR-548x	CLIP-seq
MIRT1322247	hsa-miR-593	CLIP-seq
MIRT1322207	hsa-miR-10a	CLIP-seq
MIRT1322208	hsa-miR-10b	CLIP-seq
MIRT1322219	hsa-miR-339-5p	CLIP-seq
MIRT2615917	hsa-miR-3613-3p	CLIP-seq
MIRT1322226	hsa-miR-4421	CLIP-seq
MIRT1322237	hsa-miR-4725-5p	CLIP-seq
MIRT1322240	hsa-miR-504	CLIP-seq
MIRT1322247	hsa-miR-593	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	29892012, 31515488, 32296183
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005741	Component	Mitochondrial outer membrane	IDA	26593267
GO:0007399	Process	Nervous system development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0050773	Process	Regulation of dendrite development	ISS

Other IDs

• MIM: 610502
• HGNC: 18647
• e!Ensembl: ENSG00000130347

Protein

• UniProt ID: Q8WWV3
• Protein name: NAD(P)H oxidoreductase RTN4IP1, mitochondrial (EC 1.6.5.-) (NOGO-interacting mitochondrial protein) (Reticulon-4-interacting protein 1)
• Protein 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-demethylubiquin
• PDB: 2VN8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08240	ADH_N	71 → 168	Alcohol dehydrogenase GroES-like domain	Domain
  PF13602	ADH_zinc_N_2	247 → 393		Domain

• Sequence:

  MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMPAWVIDKYGKNEVLRFT
  QNMMMPIIHYPNEVIVKVHAASVNPIDVNMRSGYGATALNMKRDPLHVKIKGEEFPLTLG
  RDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVVVSGNEVSHKPKSLTHTQAAS
  LPYVALTAWSAINKVGGLNDKNCTGKRVLILGASGGVGTFAIQVMKAWDAHVTAVCSQDA
  SELVRKLGADDVIDYKSGSVEEQLKSLKPFDFILDNVGGSTETWAPDFLKKWSGATYVTL
  VTPFLLNMDRLGIADGMLQTGVTVGSKALKHFWKGVHYRWAFFMASGPCLDDIAELVDAG
  KIRPVIEQTFPFSKVPEAFLKVERGHARGKTVINVV

• Sequence length: 396

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Optic atrophy	Autosomal recessive isolated optic atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Optic atrophy with or without ataxia, mental retardation, and seizures	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES	rs372054380, rs200457692, rs1582392486	26593267, 29181510, 28638143