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NDUFAF1 Gene

protein-coding   GIFtS: 55
GCID: GC15M041681

NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 11 2     NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 12
CIA302 3 5     NADH-Ubiquinone Oxidoreductase 1 Alpha Subcomplex, Assembly Factor 12
CGI652 5     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 13
Complex I Intermediate-Associated Protein 30, Mitochondrial2     

External Ids:    HGNC: 188281   Entrez Gene: 511032   Ensembl: ENSG000001378067   OMIM: 6069345   UniProtKB: Q9Y3753   

Export aliases for NDUFAF1 gene to outside databases

Previous GC identifers: GC15M039395 GC15M039466 GC15M018531


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NDUFAF1 Gene:
This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the
transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory
chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is
required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency.
Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is
located on the long arm of chromosome 19. (provided by RefSeq, Dec 2011)

GeneCards Summary for NDUFAF1 Gene:
NDUFAF1 (NADH dehydrogenase (ubiquinone) complex I, assembly factor 1) is a protein-coding gene. Diseases associated with NDUFAF1 include fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency, and mitochondrial complex i deficiency. GO annotations related to this gene include unfolded protein binding.

UniProtKB/Swiss-Prot: CIA30_HUMAN, Q9Y375
Function: Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex
(complex I) (By similarity)

Gene Wiki entry for NDUFAF1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFAF1 gene promoter:
         NF-1   HOXA3   p53   NF-kappaB   SRY   Nkx6-1   E2F-1   E2F   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFAF1 promoter sequence
   Search Chromatin IP Primers for NDUFAF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFAF1


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

Entrez Gene cytogenetic band: 15q11.2-q21.3   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q11.2-q21.3

NDUFAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFAF1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M041681:  view genomic region     (about GC identifiers)

Start:
41,679,551 bp from pter      End:
41,694,717 bp from pter
Size:
15,167 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CIA30_HUMAN, Q9Y375 (See protein sequence)
Recommended Name: Complex I intermediate-associated protein 30, mitochondrial precursor  
Size: 327 amino acids; 37764 Da
Subunit: Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B,
CIA30, ECSIT, and ACAD9 (By similarity)
Caution: There is a putative pseudogene of CIA30 on chromosome 19 (19p12)
Secondary accessions: Q9BVZ5

Explore the universe of human proteins at neXtProt for NDUFAF1: NX_Q9Y375

Explore proteomics data for NDUFAF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NDUFAF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057097.2  
    ENSEMBL proteins: 
     ENSP00000260361   ENSP00000453027   ENSP00000453944   ENSP00000454083  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    2 InterPro protein domains:
     IPR013857 NADH-UbQ_OxRdtase-assoc_prot30
     IPR008979 Galactose-bd-like

    Graphical View of Domain Structure for InterPro Entry Q9Y375

    ProtoNet protein and cluster: Q9Y375

    1 Blocks protein domain: IPB013857 NADH:ubiquinone oxidoreductase complex I intermediate-associated protein 30

    UniProtKB/Swiss-Prot: CIA30_HUMAN, Q9Y375
    Similarity: Belongs to the CIA30 family


    NDUFAF1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CIA30_HUMAN, Q9Y375
    Function: Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex
    (complex I) (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17344420
    GO:0051082unfolded protein binding NAS11935339
         
    NDUFAF1 for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target NDUFAF1:
    hsa-mir-30a-5p (MIRT028594)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CIA30_HUMAN, Q9Y375: Mitochondrion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol4

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion ----
    GO:0005747mitochondrial respiratory chain complex I NAS11935339

    NDUFAF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NDUFAF1
    Interactions:

        GeneGlobe Interaction Network for NDUFAF1

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

    Selected Interacting proteins for NDUFAF1 (Q9Y3751, 2, 3 ENSP000002603614) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000183311P074373I2D: score=1 
    ENSG00000224156P074373I2D: score=1 
    ENSG00000227739P074373I2D: score=1 
    ENSG00000229684P074373I2D: score=1 
    ENSG00000232421P074373I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS11935339
    GO:0006461protein complex assembly NAS11935339

    NDUFAF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NDUFAF1 (CIA30)

    1 HMDB Compound for NDUFAF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NDUFAF1 gene: 
    NM_016013.3  

    Unigene Cluster for NDUFAF1:

    NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
    Hs.106529  [show with all ESTs]
    Unigene Representative Sequence: NR_045620
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260361(uc001znx.3) ENST00000559127(uc010bcf.3) ENST00000560978
    ENST00000558719
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NDUFAF1
      QuantiFast Probe-based Assays in human, mouse, rat NDUFAF1

    Additional mRNA sequence: 

    AF151823.1 AK309889.1 AK310983.1 BC000780.2 NR_045620.1 

    5 DOTS entries:

    DT.451641  DT.100776969  DT.95274754  DT.121032650  DT.95274752 

    Selected AceView cDNA sequences (see all 116):

    BC000780 CB151225 AA384857 AI831035 CA308521 AW051746 AI911511 CR616483 
    BU619981 CB145521 AI246173 BQ049747 T36017 BI828658 AI566877 NM_016013 
    CR605439 BQ006851 BM974922 AI245488 AI701646 BM790903 AI139880 CB529332 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NDUFAF1 expression in normal human tissues (normalized intensities)      NDUFAF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTTCCGCT
    NDUFAF1 Expression
    About this image


    NDUFAF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    NDUFAF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFAF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.106529

    UniProtKB/Swiss-Prot: CIA30_HUMAN, Q9Y375
    Tissue specificity: Ubiquitous

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for NDUFAF1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufaf11 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 82.36(n)1
    77.98(a)1
      2 (59.97 cM)5
    697021  NM_027175.31  NP_081451.31 
     1196554465 
    chicken
    (Gallus gallus)
    Aves NDUFAF11 NADH dehydrogenase (ubiquinone) complex I, assembly more 62.88(n)
    55.85(a)
      423214  XM_004941618.1  XP_004941675.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFAF16
    NADH dehydrogenase (ubiquinone) complex I, assembl...
    55(a)
    1 ↔ 1
    1(41731000-41737326)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.167292 Transcribed sequence with weak similarity to protein more 74.76(n)    BX745544.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk33c032 Transcribed sequence with weak similarity to protein more 70.81(n)    57083275 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG75981 CG7598 53.4(n)
    44.39(a)
      43503  NM_143461.3  NP_651718.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nuaf-11 nuaf-1 47.11(n)
    38.78(a)
      183640  NM_073960.3  NP_506361.1 


    ENSEMBL Gene Tree for NDUFAF1 (if available)
    TreeFam Gene Tree for NDUFAF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NDUFAF1 gene

    NDUFAF1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NDUFAF1
    PGOHUM00000234435


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NDUFAF1 (see all 384)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1864050521,2
    --21744025(+) GCCTGA/GCCAGC 2 -- ds50010--------
    rs1913068941,2
    C--21744078(+) CAGGCA/GCGGTG 2 -- ds50010--------
    rs1470624251,2
    C--21744159(+) CCAGCC/TTGACC 2 -- ds50010--------
    rs287035701,2
    C,F--21744344(+) ACAGAG/ACAGAA 2 -- ds50013Minor allele frequency- A:0.14NA WA 240
    rs1817294411,2
    --21744404(+) ATTGGA/TTGGAT 2 -- ut31 nc-transcript-variant0--------
    rs2011526781,2
    C--21744425(+) AAATAC/TTTTAT 2 -- ut31 nc-transcript-variant0--------
    rs2009694981,2
    C--21744438(-) TGATAG/TAGACA 2 -- ut31 nc-transcript-variant0--------
    rs2013603551,2
    --21744450(+) TGTAGA/CTGCTA 2 -- ut31 nc-transcript-variant0--------
    rs1489295171,2
    C,F--21744518(+) GTTAAG/ACTCTG 3 /L /F mis12Minor allele frequency- A:0.00NA EU 5723
    rs2003948881,2
    C--21744521(+) AAGCTC/TTGGAG 3 K E mis10--------

    HapMap Linkage Disequilibrium report for NDUFAF1 (41679551 - 41694717 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NDUFAF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv524476CNV Loss19592680

    Human Gene Mutation Database (HGMD): NDUFAF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFAF1
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFAF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606934   
    OMIM disorders: 252010  
    5 diseases for NDUFAF1:    About MalaCards
    fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency    mitochondrial complex i deficiency    hypertrophic cardiomyopathy    inflammatory bowel disease
    malaria


    NDUFAF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NDUFAF1
    Human Genome Epidemiology (HuGE) Navigator: NDUFAF1 (2 documents)

    Export disorders for NDUFAF1 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)
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    PubMed articles for NDUFAF1 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with NDUFAF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CIA30 complex I assembly factor: a candidate for human complex I deficiency? (PubMed id 11935339)1, 2, 3 Janssen R.... van den Heuvel L. (Hum. Genet. 2002)
    2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.-H.... Lin W.-C. (Genome Res. 2000)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    5. 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. (Genome Res. 2004)
    6. Human mitochondrial complex I assembly is mediated by NDUFAF1. (PubMed id 16218961)1, 9 Vogel R.O....Nijtmans L.G. (FEBS J. 2005)
    7. Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients. (PubMed id 17383918)1, 9 Vogel R.O....Nijtmans L.G. (Mol. Genet. Metab. 2007)
    8. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. (PubMed id 17557076)1, 9 Dunning C.J....Ryan M.T. (EMBO J. 2007)
    9. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51103 HGNC: 18828 AceView: NDUFAF1 Ensembl:ENSG00000137806 euGenes: HUgn51103
    ECgene: NDUFAF1 H-InvDB: NDUFAF1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NDUFAF1 Pharmacogenomics, SNPs, Pathways

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