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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NDUFAB1 Gene

protein-coding   GIFtS: 59
GCID: GC16M023592

NADH Dehydrogenase (Ubiquinone) 1, Alpha/Beta Subcomplex,...

(Previous names: NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex,...)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NADH Dehydrogenase (Ubiquinone) 1, Alpha/Beta Subcomplex, 1, 8kDa1 2     NADH Dehydrogenase (Ubiquinone) 1, Alpha/Beta Subcomplex, 1 (8kD, SDAP)1
Complex I SDAP Subunit1 2     FASN2A2
ACP2 3     SDAP2
CI-SDAP2 3     Acyl Carrier Protein, Mitochondrial2
NADH-Ubiquinone Oxidoreductase 9.6 KDa Subunit2 3     Mitochondrial Acyl Carrier Protein2
Acyl Carrier Protein1     NADH:Ubiquinone Oxidoreductase SDAP Subunit2
mitochondrial1     

External Ids:    HGNC: 76941   Entrez Gene: 47062   Ensembl: ENSG000000047797   OMIM: 6038365   UniProtKB: O145613   

Export aliases for NDUFAB1 gene to outside databases

Previous GC identifers: GC16M023000 GC16M023680 GC16M023519 GC16M023558 GC16M023499 GC16M021682


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for NDUFAB1 Gene: 
NDUFAB1 (NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa) is a protein-coding gene. Diseases associated with NDUFAB1 include hcl-v, and bowen-conradi syndrome, and among its related super-pathways are Electron Transport Chain and Metabolic pathways. GO annotations related to this gene include fatty acid binding and calcium ion binding.

UniProtKB/Swiss-Prot: ACPM_HUMAN, O14561
Function: Carrier of the growing fatty acid chain in fatty acid biosynthesis in mitochondria. 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 (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDUFAB1 gene promoter:
         SRF   AP-1   SRF (504 AA)   ATF-2   HNF-4alpha1   POU2F1   POU2F1a   FOXO1a   c-Jun   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFAB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFAB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFAB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.2   Ensembl cytogenetic band:  16p12.2   HGNC cytogenetic band: 16p12.3

NDUFAB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFAB1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M023592:  view genomic region     (about GC identifiers)

Start:
23,592,323 bp from pter      End:
23,607,677 bp from pter
Size:
15,355 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACPM_HUMAN, O14561 (See protein sequence)
Recommended Name: Acyl carrier protein, mitochondrial precursor  
Size: 156 amino acids; 17417 Da
Subunit: Mammalian complex I is composed of 45 different subunits
Subcellular location: Mitochondrion
Sequence caution: Sequence=AAC05814.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for NDUFAB1:
2DNW (3D)    
Secondary accessions: B2R4M1 Q9UNV1

Explore the universe of human proteins at neXtProt for NDUFAB1: NX_O14561

Explore proteomics data for NDUFAB1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14561

  • NDUFAB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NDUFAB1 Protein Expression
    REFSEQ proteins: NP_004994.1  
    ENSEMBL proteins: 
     ENSP00000007516   ENSP00000454891   ENSP00000454812   ENSP00000458770   ENSP00000461693  
    Reactome Protein details: O14561
    Human Recombinant Protein Products for NDUFAB1: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551
    GO:0005759mitochondrial matrix ISS--
    GO:0031966mitochondrial membrane NAS10234612

    NDUFAB1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    comI: Mitochondrial respiratory chain complex / Complex I

    3 InterPro protein domains:
     IPR006162 PPantetheine_attach_site
     IPR003231 Acyl_carrier
     IPR009081 Acyl_carrier_prot-like

    Graphical View of Domain Structure for InterPro Entry O14561

    ProtoNet protein and cluster: O14561

    1 Blocks protein domain: IPB006162 Phosphopantetheine attachment site

    UniProtKB/Swiss-Prot: ACPM_HUMAN, O14561
    Similarity: Contains 1 acyl carrier domain


    NDUFAB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACPM_HUMAN, O14561
    Function: Carrier of the growing fatty acid chain in fatty acid biosynthesis in mitochondria. 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 (By similarity)

         Genatlas biochemistry entry for NDUFAB1:
    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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000036ACP phosphopantetheine attachment site binding involved in fatty acid biosynthetic process NAS10234612
    GO:0005504fatty acid binding ISS--
    GO:0005509calcium ion binding NAS10234612
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
         
    NDUFAB1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NDUFAB1:
     Decreased viability 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NDUFAB1 About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Parkinson's disease0.61
    Respiratory electron transport0.81
    Oxidative phosphorylation0.51
    Electron Transport Chain0.75
    Huntington's disease0.47
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Alzheimer's disease0.46
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3palmitate biosynthesis I (animals)
    palmitate biosynthesis I (animals)0.43
    fatty acid biosynthesis initiation II0.43
    4acyl carrier protein metabolism
    acyl carrier protein metabolism
    5Metformin Pathway, Pharmacodynamic
    Metformin Pathway, Pharmacodynamic

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for NDUFAB1
        Electron Transport Chain
    Oxidative phosphorylation
    fatty acid biosynthesis initiation II
    palmitate biosynthesis I (animals)
    acyl carrier protein metabolism

    4        Reactome Pathways for NDUFAB1
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport

    1 PharmGKB Pathway for NDUFAB1
        Metformin Pathway, Pharmacodynamic

    5/6         Kegg Pathways  (Kegg details for NDUFAB1) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease


    NDUFAB1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFAB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/81 Interacting proteins for NDUFAB1 (O145613 ENSP000000075164) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ORC4O439293, ENSP000002641694I2D: score=4 STRING: ENSP00000264169
    DENRO435833, ENSP000002805574I2D: score=2 STRING: ENSP00000280557
    ZNHIT1O432573I2D: score=2 
    NDUFC1ENSP000003777704STRING: ENSP00000377770 STRING: ENSP00000265500
    CYC1ENSP000003171594STRING: ENSP00000317159
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9878551
    GO:0006633fatty acid biosynthetic process NAS10234612
    GO:0009249protein lipoylation IMP--
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--

    NDUFAB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NDUFAB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NDUFAB1 (ACPM)

    9 HMDB Compounds for NDUFAB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    IronArmco iron (see all 19)7439-89-6--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Pantetheine 4'-phosphate4'-Phosphopantetheine (see all 8)2226-71-3--
    QH2CoQH2 (see all 5)56275-39-9--
    SulfideSulfide (see all 4)18496-25-8--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    1 DrugBank Compound for NDUFAB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    9 Novoseek inferred chemical compound relationships for NDUFAB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    4'-phosphopantetheine 92.4 9 9070424 (2), 16342318 (1), 9485401 (1), 17825260 (1) (see all 5)
    succinate 52.2 3 7805150 (1), 2151077 (1), 1838890 (1)
    lactate 44.2 4 7805150 (1), 19086824 (1), 9192707 (1), 11281253 (1)
    acyl-coa 42 1 14624579 (1)
    aspartate 28.3 2 11281253 (1), 15125998 (1)
    fatty acid 27.2 2 10671542 (1), 19221180 (1)
    alanine 21.7 2 11281253 (1), 15125998 (1)
    glycogen 19.3 1 9342637 (1)
    iron 0 1 9342637 (1)

    Search CenterWatch for drugs/clinical trials and news about NDUFAB1 / ACPM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for NDUFAB1 gene: 
    NM_005003.2  

    Unigene Cluster for NDUFAB1:

    NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa
    Hs.189716  [show with all ESTs]
    Unigene Representative Sequence: BQ646109
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000007516(uc002dlw.3) ENST00000562133 ENST00000484769 ENST00000570319
    ENST00000567761
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF087660.1 AK311877.1 BC058920.1 EF036489.1 EF036490.1 

    10 DOTS entries:

    DT.417703  DT.91764811  DT.95160156  DT.91764814  DT.40269861  DT.91764813  DT.91810965  DT.95160155 
    DT.91747255  DT.97822119 

    24/413 AceView cDNA sequences (see all 413):

    BU501860 BM911499 AW573186 AA618021 BE302312 AA831482 AI598144 BM764353 
    N26481 BF057580 BM272330 BQ932819 AA310175 AA878640 BU730586 AV682466 
    BU790266 AI285263 AW512267 AI708646 BU949300 BM929497 BM916488 AI815674 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NDUFAB1 expression in normal human tissues (normalized intensities)      NDUFAB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGACGAAT
    NDUFAB1 Expression
    About this image


    NDUFAB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             brain/midbrain   
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   
     
     Thymus (Hematopoietic System)
             Thymus
     
     Kidney (Urinary System)
             renal vesicle e12.5   

    See NDUFAB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFAB1

    SOURCE GeneReport for Unigene cluster: Hs.189716
        SABiosciences Expression via Pathway-Focused PCR Array including NDUFAB1: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for NDUFAB1 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufab11 , 5 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, more1, 5 86.32(n)1
    85.9(a)1
      7 (65.38 cM)5
    703161  NM_028177.31  NP_082453.21 
     1220854035 
    chicken
    (Gallus gallus)
    Aves NDUFAB11 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, more 70.37(n)
    72.92(a)
      416571  XM_414872.3  XP_414872.3 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFAB16
    Acyl carrier protein
    78(a)
    1 ↔ 1
    GL343883.1(133296-134100)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.32342 Xenopus laevis transcribed sequence with weak similarity more 78.33(n)    AW645237.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd99d012 Transcribed sequence with weak similarity to protein more 76.08(n)    BI896660.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mtacp13 NADH dehydrogenase (ubiquinone) 72(a)   3 61F6   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y56A3A.196
    F37C12.36
    Protein F37C12.3
    46(a)
    34(a)
    many → 1
    many → 1
    III(11915146-11915714)
    III(7180730-7182073)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ACP1(YKL192C)4 Mitochondrial matrix acyl carrier protein, involved more   --   11(80537-80160) 853642  NP_012729.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NDUFAB1 gene

    NDUFAB1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NDUFAB1
    PGOHUM00000243665


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/416 SNPs in NDUFAB1 are shown (see all 416)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1125780471,2
    C,F--23591857(+) GTTATT/CTACAT 1 -- int13Minor allele frequency- C:0.03NA WA 240
    rs786331631,2
    C,F--23591944(+) GTTTGA/TTGTGT 1 -- int12Minor allele frequency- T:0.03NA 122
    rs1467510211,2
    --23591972(+) CTTCCA/CGGAGG 1 -- int10--------
    rs1404463241,2
    --23591983(+) AAAGAC/GAGCCT 1 -- int10--------
    rs1456357771,2
    --23592067(+) TGATAC/TCAGCT 1 -- int10--------
    rs1381797511,2
    --23592140(+) TTTCCA/CTGAAT 1 -- int10--------
    rs1133514561,2
    F--23592308(+) CATCAC/TTGAAA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1119139511,2
    C--23592334(+) AAAATG/TTTGGT 1 -- spd10--------
    rs1136214991,2
    C,F--23592394(+) TCCATC/TAGAAT 1 -- ut311Minor allele frequency- T:0.50CSA 2
    rs32113361,2
    C--23592429(-) CACATT/GTTGGC 1 -- ut311Minor allele frequency- G:0.00NA 2

    HapMap Linkage Disequilibrium report for NDUFAB1 (23592323 - 23607677 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NDUFAB1: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFAB1
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFAB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603836    OMIM disorders: --

    8 diseases for NDUFAB1:    About MalaCards
    hcl-v    bowen-conradi syndrome    mastitis    huntington's disease
    cystic fibrosis    parkinson's disease    pneumonia    alzheimer's disease


    NDUFAB1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for NDUFAB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 7805150 (1)

    Genetic Association Database (GAD): NDUFAB1
    Human Genome Epidemiology (HuGE) Navigator: NDUFAB1 (5 documents)

    Export disorders for NDUFAB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NDUFAB1 gene, integrated from 9 sources (see all 48):
    (articles sorted by number of sources associating them with NDUFAB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. (PubMed id 9878551)1, 2, 3 Loeffen J.L....Smeitink J.A. (1998)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (2009)
    4. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PubMed id 18977241)1, 4 Starr J.M....Deary I.J. (2008)
    5. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. (PubMed id 17554300)1, 4  . (2007)
    6. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PubMed id 17601350)1, 4 Harris S.E....Deary I.J. (2007)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (2003)
    9. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)1, 2 Loftus B.J.... Adams M.D. (1999)
    10. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. (PubMed id 9763677)1, 3 Emahazion T....Brookes A.J. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4706 HGNC: 7694 AceView: NDUFAB1 Ensembl:ENSG00000004779 euGenes: HUgn4706
    ECgene: NDUFAB1 Kegg: 4706 H-InvDB: NDUFAB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NDUFAB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NDUFAB1 gene:
    Search GeneIP for patents involving NDUFAB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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