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

    Gene ID: 76947, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 4.2), kidney adult (RPKM 4.2) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Ndufaf6 in Genome Data Viewer
    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

    Expression

    • 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

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001085493.2NP_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:65311
      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_006538355.4XP_006538418.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X1

      Conserved Domains (1) summary
      pfam00494
      Location:65291
      SQS_PSY; Squalene/phytoene synthase
    2. XM_030253903.2XP_030109763.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X4

      Conserved Domains (1) summary
      pfam00494
      Location:65272
      SQS_PSY; Squalene/phytoene synthase
    3. XM_006538356.4XP_006538419.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X2

      Conserved Domains (1) summary
      pfam00494
      Location:65291
      SQS_PSY; Squalene/phytoene synthase
    4. XM_006538360.5XP_006538423.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X10

      Conserved Domains (1) summary
      pfam00494
      Location:1199
      SQS_PSY; Squalene/phytoene synthase
    5. XM_030253906.2XP_030109766.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X12

      Conserved Domains (1) summary
      cl00210
      Location:1180
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
    6. XM_036164541.1XP_036020434.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X9

      Conserved Domains (1) summary
      cl00210
      Location:32205
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
    7. XM_006538359.3XP_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:32223
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
    8. XM_030253905.2XP_030109765.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X8

      Conserved Domains (1) summary
      pfam00494
      Location:32223
      SQS_PSY; Squalene/phytoene synthase
    9. XM_006538358.4XP_006538421.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X6

      Conserved Domains (1) summary
      pfam00494
      Location:32242
      SQS_PSY; Squalene/phytoene synthase
    10. XM_030253907.2XP_030109767.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X13

      Conserved Domains (1) summary
      cl00210
      Location:1161
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
    11. XM_036164543.1XP_036020436.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X15

      Conserved Domains (1) summary
      cl00210
      Location:1159
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
    12. XM_030253904.2XP_030109764.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X5

      Conserved Domains (1) summary
      pfam00494
      Location:65270
      SQS_PSY; Squalene/phytoene synthase
    13. XM_006538357.5XP_006538420.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X3

      Conserved Domains (1) summary
      pfam00494
      Location:65289
      SQS_PSY; Squalene/phytoene synthase
    14. XM_036164542.1XP_036020435.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X11

      Conserved Domains (1) summary
      cl00210
      Location:32202
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
    15. XM_011250130.4XP_011248432.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X14

      Conserved Domains (1) summary
      cl00210
      Location:65138
      Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

    RNA

    1. XR_001784217.3 RNA Sequence