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Aliases for NDUFAB1 Gene

Aliases for NDUFAB1 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit AB1 2 3 5
  • NADH Dehydrogenase (Ubiquinone) 1, Alpha/Beta Subcomplex, 1, 8kDa 2 3
  • NADH-Ubiquinone Oxidoreductase 9.6 KDa Subunit 3 4
  • Acyl Carrier Protein, Mitochondrial 2 3
  • Complex I SDAP Subunit 2 3
  • CI-SDAP 3 4
  • ACP 3 4
  • NADH Dehydrogenase (Ubiquinone) 1, Alpha/Beta Subcomplex, 1 (8kD, SDAP) 2
  • NADH:Ubiquinone Oxidoreductase SDAP Subunit 3
  • Mitochondrial Acyl Carrier Protein 3
  • FASN2A 3
  • ACP1 3
  • SDAP 3

External Ids for NDUFAB1 Gene

Previous GeneCards Identifiers for NDUFAB1 Gene

  • GC16M023000
  • GC16M023680
  • GC16M023519
  • GC16M023558
  • GC16M023499
  • GC16M021682

Summaries for NDUFAB1 Gene

GeneCards Summary for NDUFAB1 Gene

NDUFAB1 (NADH:Ubiquinone Oxidoreductase Subunit AB1) is a Protein Coding gene. Diseases associated with NDUFAB1 include Cerebral Palsy, Ataxic, Autosomal Recessive and Prostate Adenoid Cystic Carcinoma. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Mitochondrial Fatty Acid Beta-Oxidation. GO annotations related to this gene include calcium ion binding and fatty acid binding.

UniProtKB/Swiss-Prot for NDUFAB1 Gene

  • Carrier of the growing fatty acid chain in fatty acid biosynthesis. Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFAB1 Gene

Genomics for NDUFAB1 Gene

Regulatory Elements for NDUFAB1 Gene

Enhancers for NDUFAB1 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
GH16G023536 1.6 Ensembl ENCODE dbSUPER 11.2 +57.1 57073 4.8 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 FOS SP5 DCTN5 PALB2 ENSG00000260482 COG7 NDUFAB1 GGA2 SUB1P4 GC16M023544
GH16G023527 1.5 Ensembl ENCODE dbSUPER 10.8 +67.9 67870 2.3 FOXA2 PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 TCF12 SLC30A9 FOS DCTN5 NDUFAB1 UBFD1 GGA2 SUB1P4
GH16G023508 1.4 ENCODE dbSUPER 11.4 +86.5 86545 2.6 HDGF PKNOX1 FOXA2 MLX ARNT CREB3L1 AGO1 ZFP64 WRNIP1 ARID4B DCTN5 ENSG00000260751 COG7 NDUFAB1 PALB2 ENSG00000260905 UBFD1 GGA2 LOC100419017 PIR42085
GH16G023556 1.2 ENCODE 11.9 +38.7 38710 3.2 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NDUFAB1 UBFD1 GGA2 EARS2
GH16G023518 1.2 Ensembl ENCODE dbSUPER 10.6 +77.4 77400 1.9 PKNOX1 KLF1 USF1 NFIB ZNF121 POLR2A NFYB EED ETV6 IKZF2 DCTN5 NDUFAB1 GGA2 PIR42085
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFAB1 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFAB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084569 256 1401 HNRNPUL1 MLX CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for NDUFAB1 Gene

Chromosome:
16
Start:
23,581,002 bp from pter
End:
23,596,356 bp from pter
Size:
15,355 bases
Orientation:
Minus strand

Genomic View for NDUFAB1 Gene

Genes around NDUFAB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFAB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFAB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAB1 Gene

Proteins for NDUFAB1 Gene

  • Protein details for NDUFAB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14561-ACPM_HUMAN
    Recommended name:
    Acyl carrier protein, mitochondrial
    Protein Accession:
    O14561
    Secondary Accessions:
    • B2R4M1
    • Q9UNV1

    Protein attributes for NDUFAB1 Gene

    Size:
    156 amino acids
    Molecular mass:
    17417 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits (PubMed:12611891). Interacts with ETFRF1 (PubMed:27499296).
    SequenceCaution:
    • Sequence=AAC05814.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NDUFAB1 Gene

neXtProt entry for NDUFAB1 Gene

Post-translational modifications for NDUFAB1 Gene

  • Ubiquitination at posLast=8888 and posLast=9797
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFAB1 Gene

No data available for DME Specific Peptides for NDUFAB1 Gene

Domains & Families for NDUFAB1 Gene

Protein Domains for NDUFAB1 Gene

Suggested Antigen Peptide Sequences for NDUFAB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14561

UniProtKB/Swiss-Prot:

ACPM_HUMAN :
  • Belongs to the acyl carrier protein (ACP) family.
Family:
  • Belongs to the acyl carrier protein (ACP) family.
genes like me logo Genes that share domains with NDUFAB1: view

Function for NDUFAB1 Gene

Molecular function for NDUFAB1 Gene

GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),8kDa,component alpha/beta 1,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),inner mitochondrial membrane
UniProtKB/Swiss-Prot Function:
Carrier of the growing fatty acid chain in fatty acid biosynthesis. Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain.

Gene Ontology (GO) - Molecular Function for NDUFAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000035 acyl binding IBA --
GO:0000036 ACP phosphopantetheine attachment site binding involved in fatty acid biosynthetic process IBA,NAS 10234612
GO:0005504 fatty acid binding ISS --
GO:0005509 calcium ion binding NAS 10234612
GO:0005515 protein binding IPI 27499296
genes like me logo Genes that share ontologies with NDUFAB1: view
genes like me logo Genes that share phenotypes with NDUFAB1: view

Animal Model Products

CRISPR Products

miRNA for NDUFAB1 Gene

miRTarBase miRNAs that target NDUFAB1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFAB1 Gene

Localization for NDUFAB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFAB1 Gene

Mitochondrion.

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 NDUFAB1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 4
lysosome 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NDUFAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005759 mitochondrial matrix ISS --
genes like me logo Genes that share ontologies with NDUFAB1: view

Pathways & Interactions for NDUFAB1 Gene

genes like me logo Genes that share pathways with NDUFAB1: view

Gene Ontology (GO) - Biological Process for NDUFAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS,NAS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process NAS,IEA 10234612
GO:0006635 fatty acid beta-oxidation TAS --
genes like me logo Genes that share ontologies with NDUFAB1: view

No data available for SIGNOR curated interactions for NDUFAB1 Gene

Drugs & Compounds for NDUFAB1 Gene

(7) Drugs for NDUFAB1 Gene - From: DrugBank, HMDB, and Novoseek

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

(11) Additional Compounds for NDUFAB1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Pantetheine 4'-phosphate
  • 4'-Phosphopantetheine
  • 4'-Phosphopantotheine
  • D-Pantetheine 4'-phosphate
  • Pantetheine 4'-phosphate
  • Pantotheine-4'-phosphate
2226-71-3
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 NDUFAB1: view

Transcripts for NDUFAB1 Gene

Unigene Clusters for NDUFAB1 Gene

NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAB1 Gene

No ASD Table

Relevant External Links for NDUFAB1 Gene

GeneLoc Exon Structure for
NDUFAB1
ECgene alternative splicing isoforms for
NDUFAB1

Expression for NDUFAB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFAB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDUFAB1 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.7) and Heart - Atrial Appendage (x4.2).

Protein differential expression in normal tissues from HIPED for NDUFAB1 Gene

This gene is overexpressed in Brain (7.8) and Hair follicle (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFAB1 Gene



Protein tissue co-expression partners for NDUFAB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFAB1 Gene:

NDUFAB1

SOURCE GeneReport for Unigene cluster for NDUFAB1 Gene:

Hs.189716

Evidence on tissue expression from TISSUES for NDUFAB1 Gene

  • Liver(4.5)
  • Nervous system(4.5)
  • Skin(4.4)
  • Pancreas(3)
  • Kidney(2.9)
  • Muscle(2.8)
  • Blood(2.6)
  • Heart(2.6)
  • Lung(2.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with NDUFAB1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFAB1 Gene

Orthologs for NDUFAB1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NDUFAB1 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFAB1 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFAB1 34 35
  • 99.57 (n)
cow
(Bos Taurus)
Mammalia NDUFAB1 34 35
  • 89.32 (n)
dog
(Canis familiaris)
Mammalia NDUFAB1 34
  • 87.45 (n)
-- 35
  • 87 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ndufab1 34 35
  • 86.32 (n)
Ndufab1-ps 16
rat
(Rattus norvegicus)
Mammalia Ndufab1 34
  • 85.9 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFAB1 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFAB1 34 35
  • 71.43 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFAB1 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufab1 34
  • 67.57 (n)
Str.5864 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3234 34
zebrafish
(Danio rerio)
Actinopterygii ndufab1b 34 35
  • 64.64 (n)
ndufab1a 35
  • 57 (a)
OneToMany
wufd99d01 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10001 34
fruit fly
(Drosophila melanogaster)
Insecta mtacp1 36 35
  • 72 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010464 34
  • 64.18 (n)
worm
(Caenorhabditis elegans)
Secernentea Y56A3A.19 34 35
  • 55.38 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACP1 35 37
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5076 35
  • 49 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4686 34
Species where no ortholog for NDUFAB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for NDUFAB1 Gene

ENSEMBL:
Gene Tree for NDUFAB1 (if available)
TreeFam:
Gene Tree for NDUFAB1 (if available)

Paralogs for NDUFAB1 Gene

Pseudogenes.org Pseudogenes for NDUFAB1 Gene

genes like me logo Genes that share paralogs with NDUFAB1: view

No data available for Paralogs for NDUFAB1 Gene

Variants for NDUFAB1 Gene

Sequence variations from dbSNP and Humsavar for NDUFAB1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000091514 -- 23,589,439(+) CCTTT(C/T)GTATT intron-variant
rs1000267490 -- 23,582,130(+) TTGAG(G/T)GGCAG intron-variant
rs1000343721 -- 23,587,873(+) GATGA(A/G)GGAGC intron-variant
rs1000540966 -- 23,594,132(+) CGTCT(C/T)GGCCT intron-variant
rs1000572591 -- 23,593,857(+) ATTTA(-/TTT)ATTTA intron-variant

Variation tolerance for NDUFAB1 Gene

Residual Variation Intolerance Score: 53.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFAB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFAB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NDUFAB1 Gene

Disorders for NDUFAB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFAB1 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebral palsy, ataxic, autosomal recessive
  • ataxic cerebral palsy
prostate adenoid cystic carcinoma
  • adenoid cystic carcinoma of prostate
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFAB1

Genetic Association Database (GAD)
NDUFAB1
Human Genome Epidemiology (HuGE) Navigator
NDUFAB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFAB1
genes like me logo Genes that share disorders with NDUFAB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFAB1 Gene

Publications for NDUFAB1 Gene

  1. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. (PMID: 9878551) Loeffen J.L.C.M. … Smeitink J.A.M. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 64
  2. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Down-regulation of mitochondrial acyl carrier protein in mammalian cells compromises protein lipoylation and respiratory complex I and results in cell death. (PMID: 19221180) Feng D. … Smith S. (J. Biol. Chem. 2009) 3 22 64
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 46 64

Products for NDUFAB1 Gene

Sources for NDUFAB1 Gene

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