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Aliases for NDUFB11 Gene

Aliases for NDUFB11 Gene

  • 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
  • LSDMCA3 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

  • NDUFB11 is a component of mitochondrial complex I. Complex I catalyzes the first step in the electron transport chain, the transfer of 2 electrons from NADH to ubiquinone, coupled to the translocation of 4 protons across the membrane (Carroll et al., 2002 [PubMed 12381726]).[supplied by OMIM, Feb 2009]

GeneCards Summary for NDUFB11 Gene

NDUFB11 (NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 11, 17.3kDa) is a Protein Coding gene. Diseases associated with NDUFB11 include linear skin defects with multiple congenital anomalies 3 and endometrial stromal tumor. Among its related pathways are Metabolism and Alzheimers disease.

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

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

Genomics for NDUFB11 Gene

Regulatory Elements for NDUFB11 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for NDUFB11 Gene at MOPED

Post-translational modifications for NDUFB11 Gene

  • Ubiquitination at Lys 46
  • 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

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

Phenotypes for NDUFB11 Gene

GenomeRNAi human phenotypes for NDUFB11:
genes like me logo Genes that share phenotypes with NDUFB11: view

Animal Model Products

CRISPR Products

miRNA for NDUFB11 Gene

miRTarBase miRNAs that target NDUFB11

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFB11

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for NDUFB11 Gene COMPARTMENTS Subcellular localization image for NDUFB11 gene
Compartment Confidence
mitochondrion 5
cytoskeleton 2
nucleus 2
plasma membrane 2
cytosol 1
extracellular 1
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NDUFB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I IDA 12611891
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:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
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 Agonist, Activator 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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFB11

Flow Cytometry Products

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 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, MOPED, and MaxQB for NDUFB11 Gene



SOURCE GeneReport for Unigene cluster for NDUFB11 Gene Hs.521969

mRNA Expression by UniProt/SwissProt for NDUFB11 Gene

Q9NX14-NDUBB_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expression patterns with NDUFB11: view

Protein tissue co-expression partners for NDUFB11 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia NDUFB11 35
  • 89.54 (n)
  • 84.97 (a)
NDUFB11 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFB11 35
  • 87.92 (n)
  • 86.96 (a)
NDUFB11 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufb11 35
  • 82.12 (n)
  • 77.48 (a)
Ndufb11 16
1700029P11Rik 36
  • 64 (a)
OneToMany
Ndufb11 36
  • 77 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia NDUFB11 35
  • 99.56 (n)
  • 98.69 (a)
NDUFB11 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufb11 35
  • 81.68 (n)
  • 78.81 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFB11 36
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ndufb11 35
  • 54.32 (n)
  • 46.67 (a)
ndufb11 36
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta NP15.6 36
  • 26 (a)
OneToOne
Species with no ortholog for NDUFB11:
  • 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 MAF
rs73630256 -- 47,142,212(+) ACTAG(C/T)GAGTC downstream-variant-500B
rs186453710 -- 47,141,770(+) GGGAG(A/G)TGGAG downstream-variant-500B
rs199837826 -- 47,142,364(+) GTTGG(A/C)TTCCA missense, reference
rs200464397 -- 47,142,712(+) AAAAC(A/G)GGGTC reference, synonymous-codon

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

HapMap Linkage Disequilibrium report
NDUFB11
Human Gene Mutation Database (HGMD)
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

(8) MalaCards diseases for NDUFB11 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
linear skin defects with multiple congenital anomalies 3
  • linear skin defects with cardiomyopathy and other congenital anomalies
endometrial stromal tumor
  • endometrial stromal neoplasm
linear skin defects with multiple congenital anomalies 1
  • microphthalmia, syndromic 7
endometrial stromal nodule
linear skin defects with multiple congenital anomalies
  • aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies
- elite association

UniProtKB/Swiss-Prot

NDUBB_HUMAN
  • 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.

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. cAMP-dependent protein kinase regulates the mitochondrial import of the nuclear encoded NDUFS4 subunit of complex I. (PMID: 18291624) De Rasmo D. … Papa S. (Cell. Signal. 2008) 23 67
  2. The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy. (PMID: 17292333) Petruzzella V. … Santorelli F.M. (Biochem. Biophys. Res. Commun. 2007) 23 67
  3. Expression of Ndufb11 encoding the neuronal protein 15.6 during neurite outgrowth and development. (PMID: 16962385) Gurok U. … Horstkorte R. (Gene Expr. Patterns 2007) 23 67
  4. Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits. (PMID: 12381726) Carroll J. … Hirst J. (J. Biol. Chem. 2002) 2 67
  5. Cloning and tissue expressional characterization of a full-length cDNA encoding human neuronal protein P17.3. (PMID: 10544803) Cui Y. … Zhao S. (Biochem. Genet. 1999) 2 67

Products for NDUFB11 Gene

Sources for NDUFB11 Gene

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