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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 Leber Hereditary Optic Neuropathy. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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.

Additional gene information for NDUFA11 Gene

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

GeneHancer (GH) Regulatory Elements for NDUFA11 Gene

Promoters and enhancers for NDUFA11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J005902 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -0.1 -149 3.6 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC VMAC ENSG00000267314 ENSG00000267740 NDUFA11 KHSRP CAPS SAFB DUS3L SNRPEP4 ENSG00000267571
GH19J005956 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23.8 -59.2 -59239 13.9 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 VMAC ENSG00000267571 CAPS DUS3L NDUFA11 GPR108 SAFB FUT5 ACSBG2 KHSRP
GH19J005945 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.1 -47.0 -47044 10.3 PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 ZNF766 SP5 NFYC NDUFA11 CAPS FUT5 VMAC ACSBG2 FUT3 FUT6 SAFB2 GC19P005968 RANBP3
GH19J005976 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.9 -74.5 -74496 3.5 HDGF MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 RANBP3 LOC100128568 CAPS DUS3L ENSG00000267571 NDUFA11 VMAC SAFB GPR108 FUT5
GH19J005826 Enhancer 1.5 Ensembl ENCODE dbSUPER 15.5 +75.9 75875 3.7 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 MEF2D SSRP1 DUS3L ENSG00000267571 VMAC SAFB KHSRP RANBP3 GPR108 SAFB2 SNRPEP4 NDUFA11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFA11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NDUFA11 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • C/EBPalpha
  • Pax-4a
  • FAC1
  • MIF-1

Genomic Locations for NDUFA11 Gene

Genomic Locations for NDUFA11 Gene
chr19:5,891,276-5,904,013
(GRCh38/hg38)
Size:
12,738 bases
Orientation:
Minus strand
chr19:5,891,287-5,904,024
(GRCh37/hg19)
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};

    Three dimensional structures from OCA and Proteopedia for NDUFA11 Gene

    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

Gene Families for NDUFA11 Gene

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

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.

Phenotypes From GWAS Catalog for NDUFA11 Gene

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

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

Subcellular locations from the

Human Protein Atlas (HPA)

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
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NAD Pharma Full agonist, Agonist, Activator 0

(3) Additional Compounds for NDUFA11 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
genes like me logo Genes that share compounds with NDUFA11: view

Transcripts for NDUFA11 Gene

mRNA/cDNA for NDUFA11 Gene

Unigene Clusters for NDUFA11 Gene

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

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, 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
Regions:
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

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 33
  • 99.76 (n)
OneToMany
dog
(Canis familiaris)
Mammalia NDUFA11 33
  • 80.85 (n)
-- 34
  • 56 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NDUFA11 34 33
  • 79.2 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ndufa11 33
  • 73.29 (n)
mouse
(Mus musculus)
Mammalia Ndufa11 34 33
  • 72.81 (n)
OneToMany
Ndufa11b 16
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 47 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 44 (a)
OneToMany
chicken
(Gallus gallus)
Aves NDUFA11 33
  • 58.65 (n)
-- 34
  • 39 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa11 33
  • 52.78 (n)
zebrafish
(Danio rerio)
Actinopterygii ndufa11 34 33
  • 54.64 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9350 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFA11: view image

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 Variation AA Info Type
rs1034445665 uncertain-significance, Mitochondrial complex I deficiency 5,896,533(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1056987 likely-benign, Mitochondrial complex I deficiency 5,903,925(-) T/C 5_prime_UTR_variant, non_coding_transcript_variant
rs115530541 uncertain-significance, Mitochondrial complex I deficiency 5,903,942(-) A/G 5_prime_UTR_variant, non_coding_transcript_variant
rs138889960 likely-benign, uncertain-significance, not specified, Mitochondrial complex I deficiency 5,896,957(-) C/G/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs191571307 uncertain-significance, Mitochondrial complex I deficiency 5,894,683(-) G/C 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant

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)

Additional Variant Information 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

(3) MalaCards diseases for NDUFA11 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • nadh:q(1) oxidoreductase deficiency
leber hereditary optic neuropathy
  • leber optic atrophy
leigh syndrome
  • ls
- 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.

Additional Disease Information for 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. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 58
  2. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. (PMID: 18306244) Berger I … Elpeleg O (Annals of neurology 2008) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PMID: 12611891) Murray J … Capaldi RA (The Journal of biological chemistry 2003) 3 4 58
  5. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K … Vandekerckhove J (Nature biotechnology 2003) 3 4 58

Products for NDUFA11 Gene

Sources for NDUFA11 Gene

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