NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11)

Gene

• Entrez ID: 54539
• Gene name: NADH:ubiquinone oxidoreductase subunit B11
• Gene symbol: NDUFB11
• Synonyms (NCBI Gene): CI-ESSS, ESSS, MC1DN30, NP17.3, Np15, P17.3
• Chromosome: X
• Chromosome location: Xp11.3
• Summary: The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205225	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs876657384	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057519073	C>T	Pathogenic	Missense variant, coding sequence variant
rs1556760664	A>T	Likely-pathogenic	Missense variant, coding sequence variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030059	hsa-miR-26b-5p	Microarray	19088304
MIRT037342	hsa-miR-877-5p	CLASH	23622248
MIRT1178949	hsa-miR-1909	CLIP-seq
MIRT1178950	hsa-miR-3157-5p	CLIP-seq
MIRT1178951	hsa-miR-4494	CLIP-seq
MIRT1178952	hsa-miR-4690-3p	CLIP-seq
MIRT1178953	hsa-miR-499a-5p	CLIP-seq
MIRT1178954	hsa-miR-1233	CLIP-seq
MIRT1178955	hsa-miR-1250	CLIP-seq
MIRT1178949	hsa-miR-1909	CLIP-seq
MIRT1178950	hsa-miR-3157-5p	CLIP-seq
MIRT1178956	hsa-miR-4286	CLIP-seq
MIRT1178957	hsa-miR-4323	CLIP-seq
MIRT1178951	hsa-miR-4494	CLIP-seq
MIRT1178952	hsa-miR-4690-3p	CLIP-seq
MIRT1178958	hsa-miR-4758-3p	CLIP-seq
MIRT1178953	hsa-miR-499a-5p	CLIP-seq
MIRT1178959	hsa-miR-526b	CLIP-seq
MIRT1178950	hsa-miR-3157-5p	CLIP-seq
MIRT1178952	hsa-miR-4690-3p	CLIP-seq
MIRT1178954	hsa-miR-1233	CLIP-seq
MIRT1178955	hsa-miR-1250	CLIP-seq
MIRT1178949	hsa-miR-1909	CLIP-seq
MIRT1178950	hsa-miR-3157-5p	CLIP-seq
MIRT1178956	hsa-miR-4286	CLIP-seq
MIRT1178957	hsa-miR-4323	CLIP-seq
MIRT1178952	hsa-miR-4690-3p	CLIP-seq
MIRT1178958	hsa-miR-4758-3p	CLIP-seq
MIRT1178959	hsa-miR-526b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 31206022, 32296183, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	31206022
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IBA
GO:0045271	Component	Respiratory chain complex I	IDA	12611891, 27626371

Other IDs

• MIM: 300403
• HGNC: 20372
• e!Ensembl: ENSG00000147123

Protein

• UniProt ID: Q9NX14
• Protein name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial (Complex I-ESSS) (CI-ESSS) (NADH-ubiquinone oxidoreductase ESSS subunit) (Neuronal protein 17.3) (Np17.3) (p17.3)
• Protein function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediat
• PDB: 5XTC, 5XTD, 5XTH, 5XTI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10183	ESSS	22 → 141	ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MAAGLFGLSARRLLAAAATRGLPAARVRWESSFSRTVVAPSAVAGKRPPEPTTPWQEDPE
  PEDENLYEKNPDSHGYDKDPVLDVWNMRLVFFFGVSIILVLGSTFVAYLPDYRMKEWSRR
  EAERLVKYREANGLPIMESNCFDPSKIQLPEDE

• Sequence length: 153

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Retrograde endocannabinoid signaling
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

Respiratory electron transport
Complex I biogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Histiocytoid cardiomyopathy	Pathogenic	rs786205225	RCV000240620	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Linear skin defects with multiple congenital anomalies 1	Pathogenic	rs786205225	RCV000763626	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Linear skin defects with multiple congenital anomalies 3	Pathogenic; Likely pathogenic	rs786205225, rs876657384, rs2520209894, rs1556760603, rs1057519073	RCV000170490 RCV000170491 RCV006257375 RCV003335968 RCV005044624	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial complex I deficiency, nuclear type 1	Pathogenic	rs786205225	RCV000763626	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 30	Likely pathogenic; Pathogenic	rs2520209863, rs2520209894, rs1057519073	RCV002468751 RCV005416136 RCV000412600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NDUFB11-related disorders	Likely pathogenic	rs1556760603	RCV003397012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2147053098	RCV001374959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	27488349	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sideroblastic	Sideroblastic anemia	Pubtator	27488349	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	37642954, 37986300	Associate	★☆☆☆☆ Found in Text Mining only
Atresia of nasolacrimal duct	Atresia Of Nasolacrimal Duct	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	36675256	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	27488349	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	37642954	Associate	★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of mandible	Mandibular aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of rectum	Congenital Anomaly Of Rectum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	38453051	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epispadias	Epispadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	BEFREE	25921236, 27102574		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	37642954	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	37642954	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3	Linear Skin Defects With Multiple Congenital Anomalies	GENOMICS_ENGLAND_DG	25772934		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3	Linear Skin Defects With Multiple Congenital Anomalies	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3	Linear Skin Defects With Multiple Congenital Anomalies	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Liver Diseases	Liver disease	Pubtator	37981173	Associate	★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	37642954	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmia with linear skin defects syndrome	Microphthalmia With Linear Skin Defects Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	25772934, 27102574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	ORPHANET_DG	25772934		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	GENOMICS_ENGLAND_DG	25772934		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	26741492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	36675256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30	Mitochondrial Complex Deficiency	UNIPROT_DG	26741492		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	28506826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36675256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	17262856		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	37642954	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23246602		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	17292333		★☆☆☆☆ Found in Text Mining only
Overriding aorta	Overriding aorta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovotestis	Ovotestis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	BEFREE	27102574		★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Prolapse	Tricuspid Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	37986300	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitritis	Vitritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	BEFREE	27488349		★☆☆☆☆ Found in Text Mining only