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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54539
Gene name	NADH:ubiquinone oxidoreductase subunit B11
Gene symbol	NDUFB11
Synonyms (NCBI Gene)	CI-ESSSESSSMC1DN30NP17.3Np15P17.3
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

Show/Hide all (4)

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

Show/Hide all (29)

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

Show/Hide all (12)

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

MIM	HGNC	e!Ensembl
300403	20372	ENSG00000147123

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

Interactions

View interactions

	KEGG		Reactome
	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		Respiratory electron transport Complex I biogenesis

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Histiocytoid cardiomyopathy	Pathogenic	rs786205225	RCV000240620
Linear skin defects with multiple congenital anomalies 1	Pathogenic	rs786205225	RCV000763626
Linear skin defects with multiple congenital anomalies 3	Pathogenic; Likely pathogenic	rs786205225, rs876657384, rs2520209894, rs1556760603, rs1057519073	RCV000170490 RCV000170491 RCV006257375 RCV003335968 RCV005044624
Mitochondrial complex I deficiency, nuclear type 1	Pathogenic	rs786205225	RCV000763626
Mitochondrial complex I deficiency, nuclear type 30	Likely pathogenic; Pathogenic	rs2520209863, rs2520209894, rs1057519073	RCV002468751 RCV005416136 RCV000412600
NDUFB11-related disorders	Likely pathogenic	rs1556760603	RCV003397012
Neurodevelopmental disorder	Likely pathogenic	rs2147053098	RCV001374959

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia	Associate	27488349
Anemia Sideroblastic	Associate	27488349
Atherosclerosis	Associate	37642954, 37986300
Cardiomyopathy Hypertrophic	Associate	36675256
Cerebral Arterial Diseases	Associate	37986300
Cockayne Syndrome	Associate	27488349
Cognition Disorders	Associate	37642954
Developmental Disabilities	Associate	38453051
Hyperplasia	Associate	37642954
Inflammation	Associate	37642954
Kidney Diseases	Associate	37642954
Kozlowski Tsuruta Taki syndrome	Associate	36675256
Liver Diseases	Associate	37981173
Memory Disorders	Associate	37642954
Mitochondrial complex I deficiency	Associate	36675256
Mitochondrial Diseases	Associate	36675256
Necrosis	Associate	37642954
Pain	Associate	37986300
Respiratory Insufficiency	Associate	27488349
Venous Thrombosis	Associate	37986300
Weight Loss	Associate	37642954
X linked sideroblastic anemia	Associate	27488349

NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11)