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NDUFAF7 Gene

protein-coding   GIFtS: 38
GCID: GC02P037460

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

(Previous name: chromosome 2 open reading frame 56)
(Previous symbol: C2orf56)
  Search for NDUFAF7
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 71 2     Chromosome 2 Open Reading Frame 561
C2orf561 2 3     MidA2
Mitochondrial Dysfunction Protein A Homolog1 2     NADH Dehydrogenase [Ubiquinone] Complex I, Assembly Factor 72
Protein MidA Homolog, Mitochondrial2 3     

External Ids:    HGNC: 288161   Entrez Gene: 554712   Ensembl: ENSG000000035097   UniProtKB: Q7L5923   

Export aliases for NDUFAF7 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NDUFAF7 Gene:
NDUFAF7 (NADH dehydrogenase (ubiquinone) complex I, assembly factor 7) is a protein-coding gene. GO annotations related to this gene include methyltransferase activity and enzyme binding.

UniProtKB/Swiss-Prot: NDUF7_HUMAN, Q7L592
Function: Involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex
I)




(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 at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for NDUFAF7
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFAF7 promoter sequence
   Search Chromatin IP Primers for NDUFAF7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFAF7


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

Entrez Gene cytogenetic band: 2p22.2   Ensembl cytogenetic band:  2p22.2   HGNC cytogenetic band: 2p22.2

NDUFAF7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFAF7 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P037460:  view genomic region     (about GC identifiers)

Start:
37,458,774 bp from pter      End:
37,480,546 bp from pter
Size:
21,773 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NDUF7_HUMAN, Q7L592 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] complex I, assembly factor 7 precursor  
Size: 441 amino acids; 49238 Da
Subunit: Homodimer. Interacts with NDUFS2
Sequence caution: Sequence=AAF71091.1; Type=Erroneous initiation; Sequence=AAH12374.2; Type=Erroneous initiation;
Secondary accessions: Q7Z399 Q9P1G3
Alternative splicing: 2 isoforms:  Q7L592-1   Q7L592-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NDUFAF7: NX_Q7L592

Explore proteomics data for NDUFAF7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys191
  • Modification sites at PhosphoSitePlus

  • See NDUFAF7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001077415.1  NP_653337.1  

    ENSEMBL proteins: 
     ENSP00000416594   ENSP00000002125   ENSP00000337431   ENSP00000399207   ENSP00000410181  
     ENSP00000394436   ENSP00000402959   ENSP00000412942  

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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

    1 InterPro protein domain:
     IPR003788 MidA

    Graphical View of Domain Structure for InterPro Entry Q7L592

    ProtoNet protein and cluster: Q7L592

    UniProtKB/Swiss-Prot: NDUF7_HUMAN, Q7L592
    Similarity: Belongs to the NDUFAF7 family


    Find genes that share domains with NDUFAF7           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDUF7_HUMAN, Q7L592
    Function: Involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex
    I)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168methyltransferase activity NAS--
    GO:0019899enzyme binding IPI--
         
    Find genes that share ontologies with NDUFAF7           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NDUFAF7:
     Decreased viability of wild-ty 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NDUFAF7
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    hsa-let-7b-5p (MIRT032361), hsa-let-7a-5p (MIRT052600)

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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
    NDUF7_HUMAN, Q7L592: Mitochondrion

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005739mitochondrion IDA--

    Find genes that share ontologies with NDUFAF7           About GenesLikeMe


    (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 NDUFAF7
    Interactions:

        Search GeneGlobe Interaction Network for NDUFAF7

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032259methylation NAS--
    GO:0032981mitochondrial respiratory chain complex I assembly IMP--

    Find genes that share ontologies with NDUFAF7           About GenesLikeMe



    (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 NDUFAF7 (NDUF7)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NDUFAF7 gene (3 alternative transcripts): 
    NM_018607.5  NM_001083946.1  NM_144736.4  

    Unigene Cluster for NDUFAF7:

    NADH dehydrogenase (ubiquinone) complex I, assembly factor 7
    Hs.433466  [show with all ESTs]
    Unigene Representative Sequence: NM_144736
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000455230 ENST00000474154 ENST00000002125(uc010ynj.1 uc002rqa.4 uc002rqc.4 uc010ynk.2 uc010ynl.2 uc010fah.3)
    ENST00000336237 ENST00000431821 ENST00000416653 ENST00000469831 ENST00000483999
    ENST00000439218 ENST00000432075 ENST00000474257 ENST00000419278 ENST00000441905

    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NDUFAF7
      QuantiFast Probe-based Assays in human, mouse, rat NDUFAF7

    Additional mRNA sequence: 

    AK294240.1 AK299015.1 AK302150.1 AK303555.1 BC004548.2 BC012374.1 BC035265.1 BX538031.1 

    16 DOTS entries:

    DT.75104705  DT.454714  DT.101979845  DT.91972257  DT.121001712  DT.100659718  DT.95174174  DT.121001654 
    DT.40195782  DT.91972836  DT.40113527  DT.121001666  DT.121001685  DT.121001735  DT.91785675  DT.99942189 

    Selected AceView cDNA sequences (see all 97):

    AI140452 BG150544 BC004548 CB141479 BX099075 BQ774894 CF529477 AA905755 
    NM_144736 BF197727 BQ951079 BC035265 CR609871 BX538031 BG163985 AI963116 
    NM_018607 BQ016091 BM552005 AA278509 BC012374 BE901416 BC065206 BE901693 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF7 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10
    SP1:                    -     -     -                                                           -     -                                       
    SP2:                                                                    -                       -     -                                       
    SP3:                    -     -     -                                                           -     -     -                                 
    SP4:                                                                    -                       -     -                                       
    SP5:                    -     -     -           -     -     -     -     -     -                                                               


    ECgene alternative splicing isoforms for NDUFAF7

    (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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    NDUFAF7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NDUFAF7 Expression
    About this image

    NDUFAF7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFAF7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.433466
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NDUFAF7 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufaf71 , 5 RIKEN cDNA 2410091C18 gene5
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex more1
    85.05(n)1
    85.05(a)1
      17 (49.67 cM)5
    736941  NM_028611.31  NP_082887.21 
     789371355 
    chicken
    (Gallus gallus)
    Aves C2ORF561 chromosome 3 open reading frame, human C2orf56 69.13(n)
    69.13(a)
      421477  XM_419525.4  XP_419525.2 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFAF76
    NADH dehydrogenase (ubiquinone) complex I, assembl...
    63(a)
    1 ↔ 1
    1(235262830-235276544)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.69812 Xenopus laevis transcribed sequence with weak similarity more 73.41(n)    BQ731971.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ndufaf71 NADH dehydrogenase (ubiquinone) complex I, assembly more 61.05(n)
    64.03(a)
      767796  NM_001076763.1  NP_001070231.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG177261 CG17726 50.72(n)
    49.73(a)
      41349  NM_141797.4  NP_650054.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK1128.11 ZK1128.1 50.48(n)
    42.82(a)
      259527  NM_066845.4  NP_499246.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G287001 AT3G28700 52.42(n)
    41.86(a)
      822500  NM_113790.3  NP_189511.2 
    rice
    (Oryza sativa)
    Liliopsida Os.267112 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 70.66(n)    AK072399.1 


    ENSEMBL Gene Tree for NDUFAF7 (if available)
    TreeFam Gene Tree for NDUFAF7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NDUFAF7 gene

    Find genes that share paralogs with NDUFAF7           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for NDUFAF7
    PGOHUM00000249488


    (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 NDUFAF7 (see all 433)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1884640481,2
    --37460758(+) AGACTC/GTGTCT 2 -- int10--------
    rs1996817331,2
    --37460783(+) AAAAA-/AGTGAGC 2 -- int10--------
    rs99738521,2
    C,F--37460784(+) aaaaaA/Gtgagc 2 -- int1 trp35Minor allele frequency- G:0.22NA WA CSA 9
    rs2006913531,2
    C--37460784(+) AAAAA-/GTGAGC 2 -- int10--------
    rs595594711,2
    C--37460817(+) GGCAGA/G/TCATAT 2 -- int14WA NA EA 360
    rs748261151,2
    F--37460823(+) CATATA/GTACAT 2 -- int12Minor allele frequency- G:0.08CSA WA 120
    rs1930430521,2
    --37460937(+) AAATGG/TAGAGG 2 -- int10--------
    rs1848224181,2
    --37460941(+) GTAGAG/TGCTCT 2 -- int10--------
    rs800047641,2
    C,F--37461008(+) TATTAT/CACCTT 2 -- int11Minor allele frequency- C:0.02NA 120
    rs1390944521,2
    --37461123(+) CATTGC/GTATTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for NDUFAF7 (37458774 - 37480546 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NDUFAF7: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NDUFAF7
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFAF7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (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 NDUFAF7 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with NDUFAF7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MidA is a putative methyltransferase that is required for mitochondrial complex I function. (PubMed id 20406883)1, 2 Carilla-Latorre S.... Escalante R. (J. Cell Sci. 2010)
    2. NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I. (PubMed id 24089531)1 Rhein V.F....Walker J.E. (J. Biol. Chem. 2013)
    3. A three-dimensional topology of complex I inferred from evolutionary correlations. (PubMed id 22857522)1 Kensche P.R....Huynen M.A. (BMC Struct. Biol. 2012)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    8. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    10. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)

    (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: 55471 HGNC: 28816 AceView: PRO1853 Ensembl:ENSG00000003509 euGenes: HUgn55471
    ECgene: NDUFAF7 H-InvDB: NDUFAF7

    (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 NDUFAF7 Pharmacogenomics, SNPs, Pathways

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