Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84816
Gene name	Reticulon 4 interacting protein 1
Gene symbol	RTN4IP1
Synonyms (NCBI Gene)	NIMPOPA10
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

Show/Hide all (3)

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

111

Show/Hide all (111)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	29892012, 31515488, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	26593267
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	37884807
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IDA	37884807
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008753	Function	NADPH dehydrogenase (quinone) activity	IDA	37884807
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0050773	Process	Regulation of dendrite development	ISS

MIM	HGNC	e!Ensembl
610502	18647	ENSG00000130347

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

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in mitochondria-enriched tissues (PubMed:12067236). Found in heart, muscle, kidney, liver, brain and placenta (PubMed:12067236). {ECO:0000269|PubMed:12067236}.

Sequence

MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMPAWVIDKYGKNEVLRFT
QNMMMPIIHYPNEVIVKVHAASVNPIDVNMRSGYGATALNMKRDPLHVKIKGEEFPLTLG
RDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVVVSGNEVSHKPKSLTHTQAAS
LPYVALTAWSAINKVGGLNDKNCTGKRVLILGASGGVGTFAIQVMKAWDAHVTAVCSQDA
SELVRKLGADDVIDYKSGSVEEQLKSLKPFDFILDNVGGSTETWAPDFLKKWSGATYVTL
VTPFLLNMDRLGIADGMLQTGVTVGSKALKHFWKGVHYRWAFFMASGPCLDDIAELVDAG
KIRPVIEQTFPFSKVPEAFLKVERGHARGKTVINVV

Sequence length

396

Interactions

View interactions

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Optic atrophy	Pathogenic	rs372054380	RCV004816354
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	Likely pathogenic; Pathogenic	rs763048901, rs2114691078, rs2114677062, rs755175825, rs145695118, rs372054380, rs200457692, rs1582392486, rs772984484	RCV005361808 RCV001591869 RCV002248446 RCV002248447 RCV002248448 RCV000203278 RCV000203281 RCV000995626 RCV001293459
RTN4IP1-related disorder	Likely pathogenic; Pathogenic	rs756747776	RCV003409999

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs111435523	RCV005907168
Cervical cancer	Likely benign	rs141805087	RCV005907194
Cholangiocarcinoma	Benign	rs9486411	RCV005909401
Chorea	Uncertain significance	rs1776724608	RCV001171498
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs9486411	RCV005909402
Clear cell carcinoma of kidney	Uncertain significance; Benign; Likely benign	rs138679791, rs111435523	RCV005898595 RCV005907169
Colon adenocarcinoma	Uncertain significance	rs752214513	RCV005911013
Familial cancer of breast	Benign; Likely benign	rs9486411, rs141805087	RCV005909392 RCV005907193
Familial pancreatic carcinoma	Uncertain significance; Benign	rs752214513, rs9486411	RCV005911014 RCV005909397
Global developmental delay	Uncertain significance	rs1776724608	RCV001171498
Hepatocellular carcinoma	Benign	rs9486411	RCV005909393
Lymphoma	Benign	rs9486411	RCV005909399
Macrocephaly	Uncertain significance	rs1776724608	RCV001171498
Malignant lymphoma, large B-cell, diffuse	Benign	rs9486411	RCV005909398
Melanoma	Uncertain significance	rs774705692	RCV005930636
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs9486411, rs111435523	RCV005909394 RCV005907167
Ovarian cancer	Benign	rs9486411	RCV005909395
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs146792329, rs145695118	RCV004815463 RCV004813729
See cases	Uncertain significance	rs756992664	RCV004584530
Short stature	Uncertain significance	rs1776724608	RCV001171498
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs111435523	RCV005907170
Uterine carcinosarcoma	Benign	rs9486411	RCV005909400
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs111435523	RCV005907171
Uveal melanoma	Benign	rs9486411	RCV005909396

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	33037779, 36231115
Atrophy	Associate	36231115
Blindness	Associate	33315831
Brain Diseases	Associate	29181510, 36231115
Breast Neoplasms	Associate	30961553, 36140725
Cerebellar Ataxia	Associate	33315831
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	33037779
Cone Rod Dystrophies	Associate	33315831
Deafness	Associate	29181510
Developmental Disabilities	Associate	33037779
Epilepsy	Associate	33037779
Intellectual Disability	Associate	33315831, 36231115
Intestinal Pseudo Obstruction	Associate	30961553
Lymphoma Large B Cell Diffuse	Associate	33663517
Neoplasms	Inhibit	23393170, 36140725
Neoplasms	Associate	30961553
Neurologic Manifestations	Associate	29181510, 33315831
Nystagmus Pathologic	Associate	33315831
Optic Atrophy	Associate	29181510, 33037779, 33315831, 36231115
Optic Nerve Diseases	Associate	29181510, 36231115
Respiratory Sounds	Associate	29181510
Seizures	Associate	29181510, 33315831, 36231115
Sleep Deprivation	Associate	29181510
Thyroid Cancer Papillary	Inhibit	23393170
Thyroid Neoplasms	Inhibit	23393170
Vision Disorders	Associate	33315831

RTN4IP1 (reticulon 4 interacting protein 1)