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

Gene ID: 76947, updated on 5-Mar-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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