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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
  • 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:Ubiquinone Oxidoreductase Subunit B11) is a Protein Coding gene. Diseases associated with NDUFB11 include linear skin defects with multiple congenital anomalies 3 and linear skin defects with multiple congenital anomalies 1. 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

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

Promoters for NDUFB11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFB11 on UCSC Golden Path with GeneCards custom track

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

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.

Phenotypes for NDUFB11 Gene

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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
extracellular 2
nucleus 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for NDUFB11 Gene

Pathways & Interactions for NDUFB11 Gene

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

Gene Ontology (GO) - Biological Process for NDUFB11 Gene

None

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

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
rs10530 -- 47,142,697(+) ATGTT(C/G/T)CAGAC reference, missense, stop-gained
rs73630256 -- 47,142,212(+) ACTAG(C/T)GAGTC downstream-variant-500B
rs142555630 -- 47,143,203(+) TCTAT(A/G)TTTAC intron-variant
rs143960444 -- 47,142,350(+) CTGGG(A/G)TCGAA reference, synonymous-codon
rs149913048 -- 47,142,116(+) CAGCA(A/G)TATAC downstream-variant-500B

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
linear skin defects with multiple congenital anomalies 1
  • microphthalmia
endometrial stromal nodule
linear skin defects with multiple congenital anomalies
  • linear skin defects with multiple congenital anomalies 2
myxoid leiomyosarcoma
  • leiomyosarcoma, myxoid
- elite association - COSMIC cancer census association via MalaCards

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. 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 3 4 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) 3 23
  3. 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 3
  4. Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome. (PMID: 25772934) van Rahden V.A. … Kutsche K. (Am. J. Hum. Genet. 2015) 3
  5. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3

Products for NDUFB11 Gene

Sources for NDUFB11 Gene

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