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    Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 [ Mus musculus (house mouse) ]

    Gene ID: 76947, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Ndufaf6provided by MGI
    Official Full Name
    NADH:ubiquinone oxidoreductase complex assembly factor 6provided by MGI
    Primary source
    MGI:MGI:1924197
    See related
    Ensembl:ENSMUSG00000050323 AllianceGenome:MGI:1924197
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2310030N02Rik
    Summary
    Predicted to be involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Human ortholog(s) of this gene implicated in Fanconi renotubular syndrome 5 and nuclear type mitochondrial complex I deficiency 17. Orthologous to human NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 4.2), kidney adult (RPKM 4.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 A1; 4 4.91 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (11048991..11076393, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (11048991..11076237, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_09579 Neighboring gene predicted gene, 46843 Neighboring gene STARR-seq mESC enhancer starr_09580 Neighboring gene STARR-seq mESC enhancer starr_09583 Neighboring gene predicted gene, 35429 Neighboring gene STARR-seq mESC enhancer starr_09584 Neighboring gene STARR-positive B cell enhancer ABC_E9233 Neighboring gene STARR-seq mESC enhancer starr_09587 Neighboring gene predicted gene 11827 Neighboring gene SMT3 suppressor of mif two 3 homolog 2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Yin Yang 1 Orchestrates a Metabolic Program Required for Both Neural Crest Development and Melanoma Formation. Varum S, et al. Cell Stem Cell, 2019 Apr 4. PMID 30951662
    2. Yin Yang 1 sustains biosynthetic demands during brain development in a stage-specific manner. Zurkirchen L, et al. Nat Commun, 2019 May 16. PMID 31097699, Free PMC Article
    3. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article
    4. New roles for the de-ubiquitylating enzyme OTUD4 in an RNA-protein network and RNA granules. Das R, et al. J Cell Sci, 2019 Jun 17. PMID 31138677, Free PMC Article
    5. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 
    • Endonuclease-mediated (4) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
    Names
    UPF0551 protein C8orf38 homolog, mitochondrial

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001085493.2 → NP_001078962.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 precursor

      See identical proteins and their annotated locations for NP_001078962.1

      Status: VALIDATED

      Source sequence(s)
      AL732497
      Consensus CDS
      CCDS38691.1
      UniProtKB/Swiss-Prot
      A2AIL4
      Related
      ENSMUSP00000062039.9, ENSMUST00000058183.9
      Conserved Domains (1) summary
      pfam00494
      Location:65 → 311
      SQS_PSY; Squalene/phytoene synthase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      11048991..11076393 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538355.4 → XP_006538418.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X1

      Conserved Domains (1) summary
      pfam00494
      Location:65 → 291
      SQS_PSY; Squalene/phytoene synthase

    2. XM_030253903.2 → XP_030109763.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X4

      Conserved Domains (1) summary
      pfam00494
      Location:65 → 272
      SQS_PSY; Squalene/phytoene synthase

    3. XM_006538356.4 → XP_006538419.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X2

      Conserved Domains (1) summary
      pfam00494
      Location:65 → 291
      SQS_PSY; Squalene/phytoene synthase

    4. XM_006538360.5 → XP_006538423.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X10

      Conserved Domains (1) summary
      pfam00494
      Location:1 → 199
      SQS_PSY; Squalene/phytoene synthase

    5. XM_030253906.2 → XP_030109766.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X12

      Conserved Domains (1) summary
      cl00210
      Location:1 → 180
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    6. XM_036164541.1 → XP_036020434.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X9

      Conserved Domains (1) summary
      cl00210
      Location:32 → 205
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    7. XM_006538359.3 → XP_006538422.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X7

      See identical proteins and their annotated locations for XP_006538422.1

      Conserved Domains (1) summary
      cl00210
      Location:32 → 223
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    8. XM_030253905.2 → XP_030109765.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X8

      Conserved Domains (1) summary
      pfam00494
      Location:32 → 223
      SQS_PSY; Squalene/phytoene synthase

    9. XM_006538358.4 → XP_006538421.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X6

      Conserved Domains (1) summary
      pfam00494
      Location:32 → 242
      SQS_PSY; Squalene/phytoene synthase

    10. XM_030253907.2 → XP_030109767.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X13

      Conserved Domains (1) summary
      cl00210
      Location:1 → 161
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    11. XM_036164543.1 → XP_036020436.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X15

      Conserved Domains (1) summary
      cl00210
      Location:1 → 159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    12. XM_030253904.2 → XP_030109764.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X5

      Conserved Domains (1) summary
      pfam00494
      Location:65 → 270
      SQS_PSY; Squalene/phytoene synthase

    13. XM_006538357.5 → XP_006538420.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X3

      Conserved Domains (1) summary
      pfam00494
      Location:65 → 289
      SQS_PSY; Squalene/phytoene synthase

    14. XM_036164542.1 → XP_036020435.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X11

      Conserved Domains (1) summary
      cl00210
      Location:32 → 202
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    15. XM_011250130.4 → XP_011248432.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X14

      Conserved Domains (1) summary
      cl00210
      Location:65 → 138
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    RNA

    1. XR_001784217.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2AIL4.1 GenPept UniProtKB/Swiss-Prot:A2AIL4

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