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Aliases for NDUFB11 Gene

Aliases for NDUFB11 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit B11 2 3 5
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 11, 17.3kDa 2 3
  • NADH-Ubiquinone Oxidoreductase ESSS Subunit 3 4
  • Complex I NP17.3 Subunit 2 3
  • Neuronal Protein 17.3 3 4
  • Complex I-ESSS 3 4
  • CI-ESSS 3 4
  • NP17.3 3 4
  • P17.3 3 4
  • NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 11, Mitochondrial 3
  • ESSS 3
  • Np15 3

External Ids for NDUFB11 Gene

Previous GeneCards Identifiers for NDUFB11 Gene

  • GC0XM046757
  • GC0XM046886
  • GC0XM047001
  • GC0XM044714

Summaries for NDUFB11 Gene

Entrez Gene Summary for NDUFB11 Gene

  • 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 transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]

GeneCards Summary for NDUFB11 Gene

NDUFB11 (NADH:Ubiquinone Oxidoreductase Subunit B11) is a Protein Coding gene. Diseases associated with NDUFB11 include Linear Skin Defects With Multiple Congenital Anomalies 3 and Mitochondrial Complex I Deficiency. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

UniProtKB/Swiss-Prot for NDUFB11 Gene

  • 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 immediate electron acceptor for the enzyme is believed to be ubiquinone.

Gene Wiki entry for NDUFB11 Gene

Additional gene information for NDUFB11 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFB11 Gene

Genomics for NDUFB11 Gene

Regulatory Elements for NDUFB11 Gene

Enhancers for NDUFB11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH047514 1.3 FANTOM5 ENCODE dbSUPER 5.1 -370.3 -370268 2 GTF2F1 TBP JUN RFX5 ZNF121 GATA3 POLR2A RCOR1 FOS NFE2L2 LINC01560 ZNF41 SNORA11C LOC100419232 INE1 UBA1 ZNF674 NDUFB11 CFP ARAF
GH0XH047520 0.2 dbSUPER 3.9 -375.7 -375669 0 ZNF41 LINC01560 LOC100419232 SNORA11C UBA1 INE1 NDUFB11 NUS1P1 ARAF
GH0XH047143 1.1 ENCODE 0.7 +0.2 202 3 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 FOS SP3 SP5 RGN INE1 RBM10 NDUFB11
GH0XH047157 0.3 FANTOM5 0.4 -12.1 -12102 0 LOC100421108 NDUFB11
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFB11 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFB11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000246384 403 3400 PKNOX1 ATF1 ARID4B SIN3A DMAP1 GLI4 YY1 ZNF121 ZNF766 GLIS2

Genomic Location for NDUFB11 Gene

Chromosome:
X
Start:
47,142,216 bp from pter
End:
47,145,504 bp from pter
Size:
3,289 bases
Orientation:
Minus strand

Genomic View for NDUFB11 Gene

Genes around NDUFB11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFB11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFB11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFB11 Gene

Proteins for NDUFB11 Gene

  • Protein details for NDUFB11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX14-NDUBB_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial
    Protein Accession:
    Q9NX14
    Secondary Accessions:
    • Q5JRR3
    • Q5JRR4
    • Q6IAB6
    • Q8WZ96
    • Q9BXX9

    Protein attributes for NDUFB11 Gene

    Size:
    153 amino acids
    Molecular mass:
    17317 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Alternative splice isoforms for NDUFB11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFB11 Gene

Post-translational modifications for NDUFB11 Gene

  • Ubiquitination at Lys46
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFB11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFB11 Gene

Domains & Families for NDUFB11 Gene

Gene Families for NDUFB11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for NDUFB11 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFB11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NX14

UniProtKB/Swiss-Prot:

NDUBB_HUMAN :
  • Belongs to the complex I NDUFB11 subunit family.
Family:
  • Belongs to the complex I NDUFB11 subunit family.
genes like me logo Genes that share domains with NDUFB11: view

Function for NDUFB11 Gene

Molecular function for NDUFB11 Gene

UniProtKB/Swiss-Prot 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 immediate electron acceptor for the enzyme is believed to be ubiquinone.

Gene Ontology (GO) - Molecular Function for NDUFB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with NDUFB11: view
genes like me logo Genes that share phenotypes with NDUFB11: view

Human Phenotype Ontology for NDUFB11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for NDUFB11 Gene

miRTarBase miRNAs that target NDUFB11

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NDUFB11
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFB11 Gene

Localization for NDUFB11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFB11 Gene

Mitochondrion inner membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFB11 gene
Compartment Confidence
mitochondrion 5
extracellular 2
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I IDA 12611891
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NDUFB11: view

Pathways & Interactions for NDUFB11 Gene

genes like me logo Genes that share pathways with NDUFB11: view

Gene Ontology (GO) - Biological Process for NDUFB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFB11: view

No data available for SIGNOR curated interactions for NDUFB11 Gene

Drugs & Compounds for NDUFB11 Gene

(5) Drugs for NDUFB11 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0
NADH Nutra 0

(3) Additional Compounds for NDUFB11 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
genes like me logo Genes that share compounds with NDUFB11: view

Transcripts for NDUFB11 Gene

mRNA/cDNA for NDUFB11 Gene

Unigene Clusters for NDUFB11 Gene

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NDUFB11
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFB11 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3
SP1: -
SP2:

Relevant External Links for NDUFB11 Gene

GeneLoc Exon Structure for
NDUFB11
ECgene alternative splicing isoforms for
NDUFB11

Expression for NDUFB11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFB11 Gene

Protein differential expression in normal tissues from HIPED for NDUFB11 Gene

This gene is overexpressed in Heart (11.4) and Bone (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFB11 Gene



Protein tissue co-expression partners for NDUFB11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFB11 Gene:

NDUFB11

SOURCE GeneReport for Unigene cluster for NDUFB11 Gene:

Hs.521969

mRNA Expression by UniProt/SwissProt for NDUFB11 Gene:

Q9NX14-NDUBB_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for NDUFB11 Gene

  • Nervous system(4.7)
  • Eye(4.4)
  • Liver(4.3)
  • Muscle(2.4)
  • Heart(2.3)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFB11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • scalp
  • skull
Thorax:
  • aorta
  • chest wall
  • diaphragm
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • anus
  • ovary
  • penis
  • rectum
  • testicle
  • urethra
  • uterus
  • vagina
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with NDUFB11: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NDUFB11 Gene

Orthologs for NDUFB11 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFB11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFB11 33 34
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia NDUFB11 34 33
  • 89.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFB11 34 33
  • 87.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufb11 16 34 33
  • 82.12 (n)
1700029P11Rik 34
  • 64 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ndufb11 33
  • 81.68 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFB11 34
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ndufb11 33 34
  • 54.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta NP15.6 34
  • 26 (a)
OneToOne
Species where no ortholog for NDUFB11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFB11 Gene

ENSEMBL:
Gene Tree for NDUFB11 (if available)
TreeFam:
Gene Tree for NDUFB11 (if available)

Paralogs for NDUFB11 Gene

Pseudogenes.org Pseudogenes for NDUFB11 Gene

genes like me logo Genes that share paralogs with NDUFB11: view

No data available for Paralogs for NDUFB11 Gene

Variants for NDUFB11 Gene

Sequence variations from dbSNP and Humsavar for NDUFB11 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_076277 Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
rs1057519073 Pathogenic 47,142,418(-) GCCGC(A/G)AAGCT reference, missense
rs786205225 Pathogenic 47,142,690(-) ACATG(C/T)GACTT reference, stop-gained
rs876657384 Pathogenic 47,142,407(-) GAGAG(-/G)CTTGT reference, frameshift-variant
rs1002499036 -- 47,143,116(+) ATAGC(C/T)CCCTA intron-variant

Variation tolerance for NDUFB11 Gene

Residual Variation Intolerance Score: 75.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFB11 Gene

Human Gene Mutation Database (HGMD)
NDUFB11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFB11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NDUFB11 Gene

Disorders for NDUFB11 Gene

MalaCards: The human disease database

(9) MalaCards diseases for NDUFB11 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
linear skin defects with multiple congenital anomalies 3
  • linear skin defects with cardiomyopathy and other congenital anomalies
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
linear skin defects with multiple congenital anomalies 1
  • microphthalmia with linear skin defects syndrome
endometrial stromal nodule
corpus callosum agenesis
  • agenesis of the corpus callosum
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUBB_HUMAN
  • Cardiomyopathy, infantile histiocytoid (CMIH) [MIM:500000]: A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome. {ECO:0000305 PubMed:25921236}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Linear skin defects with multiple congenital anomalies 3 (LSDMCA3) [MIM:300952]: A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA3 clinical features include linear skin defects on face and neck at birth, lacrimal duct atresia, myopia, nystagmus, strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum agenesis, and dilation of lateral ventricles. {ECO:0000269 PubMed:25772934}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269 PubMed:26741492}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDUFB11

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFB11
genes like me logo Genes that share disorders with NDUFB11: view

No data available for Genatlas for NDUFB11 Gene

Publications for NDUFB11 Gene

  1. Cloning and tissue expressional characterization of a full-length cDNA encoding human neuronal protein P17.3. (PMID: 10544803) Cui Y … Zhao S (Biochemical genetics 1999) 2 3 4 60
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 60
  3. Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. (PMID: 25772934) van Rahden VA … Kutsche K (American journal of human genetics 2015) 3 4 60
  4. Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy. (PMID: 25921236) Shehata BM … Gibson G (American journal of medical genetics. Part A 2015) 3 4 60
  5. The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy. (PMID: 17292333) Petruzzella V … Santorelli FM (Biochemical and biophysical research communications 2007) 3 22 60

Products for NDUFB11 Gene

Sources for NDUFB11 Gene

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