MultifacetedProtDB - Bologna Biocomputing Group

Summary of Q5TEU4

Gene: NDUFAF5, C20orf7
Protein: Arginine-hydroxylase NDUFAF5, mitochondrial

Protein family
Protein sequence
Protein function

Catalytic activity

EC number	EC number description
1.-.-.-	Oxidoreductases; ; ;
2.1.1.-	Transferases; Transferring one-carbon groups; Methyltransferases;

Publications

Structure

GO term

GO ontology	GO term	GO description
Biological Process	GO:0032259	methylation
Biological Process	GO:0032981	mitochondrial respiratory chain complex I assembly
Biological Process	GO:0030961	peptidyl-arginine hydroxylation
Molecular Function	GO:0008168	methyltransferase activity
Molecular Function	GO:0016491	oxidoreductase activity
Cellular Component	GO:0031314	extrinsic component of mitochondrial inner membrane
Cellular Component	GO:0005743	mitochondrial inner membrane
Cellular Component	GO:0005739	mitochondrion

InterPro / Pfam

InterPro	InterPro name
IPR013216	Methyltransferase type 11
IPR029063	S-adenosyl-L-methionine-dependent methyltransferase superfamily

Pfam	Pfam name
PF08241	Methyltransferase domain

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-6799198	Complex I biogenesis	Leaf	R-HSA-1430728	Metabolism

Subcellular location

Location	ECO term	Pubmed
Mitochondrion inner membrane	ECO:0000269	PubMed:18940309
Mitochondrion inner membrane	ECO:0000269	PubMed:27226634
Mitochondrion inner membrane	ECO:0000269	PubMed:35614220

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000114	Proximal tubulopathy
HP:0000252	Microcephaly
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000543	Optic disc pallor
HP:0000580	Pigmentary retinopathy
HP:0000602	Ophthalmoplegia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000712	Emotional lability
HP:0000817	Reduced eye contact
HP:0000819	Diabetes mellitus
HP:0000846	Adrenal insufficiency
HP:0000998	Hypertrichosis
HP:0001138	Optic neuropathy
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001266	Choreoathetosis
HP:0001274	Agenesis of corpus callosum
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy
HP:0001324	Muscle weakness
HP:0001332	Dystonia
HP:0001347	Hyperreflexia
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001629	Ventricular septal defect
HP:0001639	Hypertrophic cardiomyopathy
HP:0001903	Anemia
HP:0001941	Acidosis
HP:0001943	Hypoglycemia
HP:0002013	Vomiting
HP:0002073	Progressive cerebellar ataxia
HP:0002093	Respiratory insufficiency
HP:0002104	Apnea
HP:0002151	Increased serum lactate
HP:0002240	Hepatomegaly
HP:0002340	Caudate atrophy
HP:0002342	Intellectual disability, moderate
HP:0002352	Leukoencephalopathy
HP:0002415	Leukodystrophy
HP:0002421	Poor head control
HP:0002490	Increased CSF lactate
HP:0002510	Spastic tetraplegia
HP:0002650	Scoliosis
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
HP:0003128	Lactic acidosis
HP:0003542	Increased serum pyruvate
HP:0003737	Mitochondrial myopathy
HP:0007020	Progressive spastic paraplegia
HP:0007183	Focal T2 hyperintense basal ganglia lesion
HP:0007704	Paroxysmal involuntary eye movements
HP:0008316	Abnormal mitochondria in muscle tissue
HP:0008972	Decreased activity of mitochondrial respiratory chain
HP:0009112	Aplasia of the left hemidiaphragm
HP:0009830	Peripheral neuropathy
HP:0010864	Intellectual disability, severe
HP:0011923	Decreased activity of mitochondrial complex I
HP:0011968	Feeding difficulties
HP:0012748	Focal T2 hyperintense brainstem lesion
HP:0025116	Fetal distress
HP:0100022	Abnormality of movement

Tissue and cell type

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
leigh syndrome with leukodystrophy	MONDO:0016815	G31	chapter6, Diseases of the nervous system		Orphanet:255241
leber plus disease	MONDO:0020478	H47	chapter7, Diseases of the eye and adnexa		Orphanet:99718
mitochondrial complex 1 deficiency, nuclear type 16	MONDO:0032621	E70	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:618238
mitochondrial complex 1 deficiency, nuclear type 16	MONDO:0032621	E88	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:618238

Summary of Q5TEU4

Gene: NDUFAF5, C20orf7 Protein: Arginine-hydroxylase NDUFAF5, mitochondrial

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: NDUFAF5, C20orf7
Protein: Arginine-hydroxylase NDUFAF5, mitochondrial