Aliases for NDUFAB1 Gene

Aliases for NDUFAB1 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit AB1 2 3 5
  • Acyl Carrier Protein, Mitochondrial 2 3 4
  • ACP 2 3 4
  • NADH Dehydrogenase (Ubiquinone) 1, Alpha/Beta Subcomplex, 1, 8kDa 2 3
  • NADH-Ubiquinone Oxidoreductase 9.6 KDa Subunit 3 4
  • Complex I SDAP Subunit 2 3
  • CI-SDAP 3 4
  • FASN2A 2 3
  • ACP1 2 3
  • SDAP 2 3
  • NADH Dehydrogenase (Ubiquinone) 1, Alpha/Beta Subcomplex, 1 (8kD, SDAP) 2
  • NADH:Ubiquinone Oxidoreductase SDAP Subunit 3
  • Mitochondrial Acyl Carrier Protein 3
  • NDUFAB1 5

External Ids for NDUFAB1 Gene

Previous GeneCards Identifiers for NDUFAB1 Gene

  • GC16M023000
  • GC16M023680
  • GC16M023519
  • GC16M023558
  • GC16M023499
  • GC16M023592
  • 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 Prostate Adenoid Cystic Carcinoma and Acute Gonococcal Prostatitis. Among its related pathways are GABAergic synapse and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include calcium ion binding and fatty acid binding. An important paralog of this gene is ZNF593.

UniProtKB/Swiss-Prot Summary for NDUFAB1 Gene

  • Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity). 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 (PubMed:27626371).

Additional gene information for NDUFAB1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFAB1 Gene

Genomics for NDUFAB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NDUFAB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFAB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFAB1

Top Transcription factor binding sites by QIAGEN in the NDUFAB1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • FOXO1
  • FOXO1a
  • HNF-4alpha1
  • POU2F1
  • POU2F1a
  • SRF
  • SRF (504 AA)

Genomic Locations for NDUFAB1 Gene

Genomic Locations for NDUFAB1 Gene
chr16:23,581,012-23,596,329
(GRCh38/hg38)
Size:
15,318 bases
Orientation:
Minus strand
chr16:23,592,323-23,607,677
(GRCh37/hg19)
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). Identified in a complex composed of MALSU1, MIEF1 upstream open reading frame protein and NDUFAB1; within the trimeric complex, MIEF1 upstream open reading frame protein functions as a bridging scaffold that interacts with MALSU1 on one side, and with NDUFAB1 on the other side. The complex interacts with the mitochondrial large ribosomal subunit (PubMed:28892042, PubMed:30215512).
    SequenceCaution:
    • Sequence=AAC05814.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • In contrast to other accessory subunits of complex I, NDUFAB1 is the only subunit that is essential for cell viability in HEK293T cells. Since knockout cells lack assembled complex I and die in galactose media, this suggests that the essential role of NDUFAB1 is independent of complex I.

    Three dimensional structures from OCA and Proteopedia for NDUFAB1 Gene

neXtProt entry for NDUFAB1 Gene

Post-translational modifications for NDUFAB1 Gene

  • Ubiquitination at Lys88 and Lys97
  • 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

Gene Families for NDUFAB1 Gene

Protein Domains for NDUFAB1 Gene

InterPro:
Blocks:
  • Phosphopantetheine attachment site
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFAB1 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase 9.6 kDa subunit (ACPM_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity). 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 (PubMed:27626371).
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

Phenotypes From GWAS Catalog for NDUFAB1 Gene

Gene Ontology (GO) - Molecular Function for NDUFAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000035 acyl binding IBA 21873635
GO:0000036 acyl carrier activity 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFAB1

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 4
plasma membrane 2
extracellular 2
cytosol 2
lysosome 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IBA,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 --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process NAS 10234612
GO:0009249 protein lipoylation IMP 21846720
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Iron Approved, Experimental Pharma 1560
FAD Approved Pharma 0
NAD Experimental Pharma Agonist, Full agonist, Activator 0
Pantetheine 4'-phosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 NDUFAB1: view

Transcripts for NDUFAB1 Gene

mRNA/cDNA for NDUFAB1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFAB1

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

No ASD Table

Relevant External Links for NDUFAB1 Gene

GeneLoc Exon Structure for
NDUFAB1

Expression for NDUFAB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for NDUFAB1 Gene



Protein tissue co-expression partners for NDUFAB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFAB1

SOURCE GeneReport for Unigene cluster for NDUFAB1 Gene:

Hs.189716

Evidence on tissue expression from TISSUES for NDUFAB1 Gene

  • Liver(4.6)
  • Nervous system(4.6)
  • Skin(4.5)
  • Pancreas(3.4)
  • Muscle(3.1)
  • Kidney(3.1)
  • Heart(3)
  • Blood(2.8)
  • Lung(2.6)
  • Spleen(2.5)
  • Intestine(2.4)
  • Stomach(2.3)
  • Lymph node(2.2)
  • Eye(2.2)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with NDUFAB1: view

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 31
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia NDUFAB1 30 31
  • 99.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NDUFAB1 30 31
  • 89.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NDUFAB1 30
  • 87.45 (n)
-- 31
  • 87 (a)
OneToMany
-- 31
  • 80 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Ndufab1 30 17 31
  • 86.32 (n)
OneToOne
Ndufab1-ps 17
Rat
(Rattus norvegicus)
Mammalia Ndufab1 30
  • 85.9 (n)
Oppossum
(Monodelphis domestica)
Mammalia NDUFAB1 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NDUFAB1 30 31
  • 71.43 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NDUFAB1 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ndufab1 30
  • 67.57 (n)
Str.5864 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3234 30
Zebrafish
(Danio rerio)
Actinopterygii ndufab1b 30 31
  • 64.64 (n)
OneToMany
ndufab1a 31
  • 57 (a)
OneToMany
wufd99d01 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10001 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010464 30
  • 64.18 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta mtacp1 31 32
  • 43 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y56A3A.19 30 31
  • 55.38 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACP1 31 33
  • 34 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5076 31
  • 49 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4686 30
Species where no ortholog for NDUFAB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFAB1: view image

Paralogs for NDUFAB1 Gene

Paralogs for NDUFAB1 Gene

Pseudogenes.org Pseudogenes for NDUFAB1 Gene

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

Variants for NDUFAB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFAB1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
718238 Benign: not provided 23,587,263(-) C/T SYNONYMOUS_VARIANT
721858 Benign: not provided 23,596,251(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFAB1 Gene

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)

Additional Variant Information 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

(6) MalaCards diseases for NDUFAB1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
prostate adenoid cystic carcinoma
  • adenoid cystic carcinoma of prostate
acute gonococcal prostatitis
  • gonococcal prostatitis
adamantinous craniopharyngioma
  • adamantinous rathke's pouch tumor
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • coxa vara
papillary craniopharyngioma
  • craniopharyngioma, papillary
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFAB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 JL … Smeitink JA (Biochemical and biophysical research communications 1998) 2 3 4
  2. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4
  3. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 4
  4. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for NDUFAB1 Gene

Sources for NDUFAB1 Gene