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Aliases for NDUFA11 Gene

Aliases for NDUFA11 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A11 2 3 5
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 11, 14.7kDa 2 3
  • NADH-Ubiquinone Oxidoreductase Subunit B14.7 3 4
  • Complex I B14.7 Subunit 2 3
  • CI-B14.7 3 4
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 11 3
  • Complex I-B14.7 4
  • B14.7 3

External Ids for NDUFA11 Gene

Previous GeneCards Identifiers for NDUFA11 Gene

  • GC19M005962
  • GC19M005832
  • GC19M005845
  • GC19M005651

Summaries for NDUFA11 Gene

Entrez Gene Summary for NDUFA11 Gene

  • This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

GeneCards Summary for NDUFA11 Gene

NDUFA11 (NADH:Ubiquinone Oxidoreductase Subunit A11) is a Protein Coding gene. Diseases associated with NDUFA11 include Mitochondrial Complex I Deficiency and Leigh Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. An important paralog of this gene is ENSG00000267740.

UniProtKB/Swiss-Prot for NDUFA11 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 (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA11 Gene

Genomics for NDUFA11 Gene

Regulatory Elements for NDUFA11 Gene

Enhancers for NDUFA11 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
GH19G005956 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.8 -59.2 -59240 13.9 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 SIN3A ARID4B DMAP1 FEZF1 VMAC CAPS NDUFA11 FUT5 ACSBG2 ENSG00000267571 GPR108 FUT3 FUT6 SLC25A41
GH19G005945 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.1 -47.0 -47045 10.3 FOXA2 PKNOX1 MLX SIN3A ARID4B DMAP1 YY1 SLC30A9 ZNF766 ZNF143 NDUFA11 CAPS FUT5 VMAC ACSBG2 FUT3 FUT6 SAFB2 GC19P005968 ENSG00000267571
GH19G005826 1.7 Ensembl ENCODE dbSUPER 15.5 +75.9 75875 3.7 CREB3L1 MLX AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC VMAC ENSG00000267571 NDUFA11 GPR108 SAFB SNRPEP4 DUS3L PRR22 CATSPERD FUT5
GH19G005941 1 ENCODE dbSUPER 23.7 -39.4 -39366 3.9 ZBTB21 ZNF384 HIC1 ZFHX2 ZBTB48 PATZ1 FOS ZNF600 PRDM10 EGR2 NDUFA11 CAPS VMAC FUT5 GC19P005968 ENSG00000267571
GH19G005880 1 ENCODE 19.5 +23.3 23318 1.3 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 SP5 ZHX2 PPARG KAT8 CAPS NDUFA11 GC19M005878 FUT5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFA11 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFA11 Gene

Chromosome:
19
Start:
5,891,276 bp from pter
End:
5,904,013 bp from pter
Size:
12,738 bases
Orientation:
Minus strand

Genomic View for NDUFA11 Gene

Genes around NDUFA11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA11 Gene

Proteins for NDUFA11 Gene

  • Protein details for NDUFA11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86Y39-NDUAB_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11
    Protein Accession:
    Q86Y39
    Secondary Accessions:
    • C9JT23
    • Q6ZS66

    Protein attributes for NDUFA11 Gene

    Size:
    141 amino acids
    Molecular mass:
    14852 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.
    SequenceCaution:
    • Sequence=BAC87088.1; Type=Miscellaneous discrepancy; Note=Erroneous CDS prediction.; Evidence={ECO:0000305};

    Alternative splice isoforms for NDUFA11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFA11 Gene

Post-translational modifications for NDUFA11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFA11 Gene

No data available for DME Specific Peptides for NDUFA11 Gene

Domains & Families for NDUFA11 Gene

Protein Domains for NDUFA11 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86Y39

UniProtKB/Swiss-Prot:

NDUAB_HUMAN :
  • Belongs to the complex I NDUFA11 subunit family.
Family:
  • Belongs to the complex I NDUFA11 subunit family.
genes like me logo Genes that share domains with NDUFA11: view

Function for NDUFA11 Gene

Molecular function for NDUFA11 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 (By similarity).
genes like me logo Genes that share phenotypes with NDUFA11: view

Human Phenotype Ontology for NDUFA11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA11 Gene

Localization for NDUFA11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA11 Gene

Mitochondrion inner membrane; Multi-pass membrane protein; Matrix side.

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 NDUFA11 gene
Compartment Confidence
mitochondrion 5
peroxisome 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NDUFA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
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 NDUFA11: view

Pathways & Interactions for NDUFA11 Gene

genes like me logo Genes that share pathways with NDUFA11: view

Gene Ontology (GO) - Biological Process for NDUFA11 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 NDUFA11: view

No data available for SIGNOR curated interactions for NDUFA11 Gene

Drugs & Compounds for NDUFA11 Gene

(5) Drugs for NDUFA11 Gene - From: DrugBank and 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
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(3) Additional Compounds for NDUFA11 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 NDUFA11: view

Transcripts for NDUFA11 Gene

Unigene Clusters for NDUFA11 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA11 Gene

No ASD Table

Relevant External Links for NDUFA11 Gene

GeneLoc Exon Structure for
NDUFA11
ECgene alternative splicing isoforms for
NDUFA11

Expression for NDUFA11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFA11 Gene

Protein differential expression in normal tissues from HIPED for NDUFA11 Gene

This gene is overexpressed in Heart (10.8) and Frontal cortex (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFA11 Gene



Protein tissue co-expression partners for NDUFA11 Gene

NURSA nuclear receptor signaling pathways regulating expression of NDUFA11 Gene:

NDUFA11

SOURCE GeneReport for Unigene cluster for NDUFA11 Gene:

Hs.406062

Evidence on tissue expression from TISSUES for NDUFA11 Gene

  • Heart(4.6)
  • Blood(4.2)
  • Nervous system(2.6)
  • Muscle(2.4)
  • Adrenal gland(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFA11: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFA11 Gene

Orthologs for NDUFA11 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFA11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFA11 34 35
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia NDUFA11 34
  • 80.85 (n)
-- 35
  • 56 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NDUFA11 34 35
  • 79.2 (n)
rat
(Rattus norvegicus)
Mammalia Ndufa11 34
  • 73.29 (n)
mouse
(Mus musculus)
Mammalia Ndufa11 34 16 35
  • 72.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 47 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 44 (a)
OneToMany
chicken
(Gallus gallus)
Aves NDUFA11 34
  • 58.65 (n)
-- 35
  • 39 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa11 34
  • 52.78 (n)
zebrafish
(Danio rerio)
Actinopterygii ndufa11 34 35
  • 54.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9350 35
  • 23 (a)
OneToMany
Species where no ortholog for NDUFA11 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFA11 Gene

ENSEMBL:
Gene Tree for NDUFA11 (if available)
TreeFam:
Gene Tree for NDUFA11 (if available)

Paralogs for NDUFA11 Gene

Paralogs for NDUFA11 Gene

genes like me logo Genes that share paralogs with NDUFA11: view

Variants for NDUFA11 Gene

Sequence variations from dbSNP and Humsavar for NDUFA11 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs863224079 Pathogenic 5,894,856(-) CCCAC(A/G)GCGCA intron-variant, splice-acceptor-variant
rs1057517914 Likely pathogenic 5,896,452(-) ACGCA(A/G)TGAGT splice-donor-variant
rs199842745 Likely pathogenic 5,896,455(+) CACTG(A/C/T)GTGCT nc-transcript-variant, reference, missense
rs1056987 Likely benign 5,903,925(-) TGGGG(A/G)TGCAC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs575960075 Likely benign 5,892,990(+) CCCCT(C/G)CCCCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NDUFA11 Gene

Variant ID Type Subtype PubMed ID
nsv1062851 CNV gain 25217958

Variation tolerance for NDUFA11 Gene

Gene Damage Index Score: 5.29; 70.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFA11 Gene

Human Gene Mutation Database (HGMD)
NDUFA11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA11 Gene

Disorders for NDUFA11 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFA11 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUAB_HUMAN
  • 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:18306244}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDUFA11

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFA11
genes like me logo Genes that share disorders with NDUFA11: view

No data available for Genatlas for NDUFA11 Gene

Publications for NDUFA11 Gene

  1. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. (PMID: 18306244) Berger I. … Elpeleg O. (Ann. Neurol. 2008) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PMID: 12611891) Murray J. … Capaldi R.A. (J. Biol. Chem. 2003) 3 4 64
  4. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K. … Vandekerckhove J. (Nat. Biotechnol. 2003) 3 4 64
  5. 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 64

Products for NDUFA11 Gene

Sources for NDUFA11 Gene

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