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    Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 296086, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ndufaf1provided by RGD
    Official Full Name
    NADH:ubiquinone oxidoreductase complex assembly factor 1provided by RGD
    Primary source
    RGD:1306202
    See related
    EnsemblRapid:ENSRNOG00000005006 AllianceGenome:RGD:1306202
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Cia30
    Summary
    Predicted to enable unfolded protein binding activity. Predicted to be involved in chaperone-mediated protein complex assembly; mitochondrial electron transport, NADH to ubiquinone; and mitochondrial respiratory chain complex I assembly. Predicted to be located in cytosol. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in nuclear type mitochondrial complex I deficiency 11. Orthologous to human NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Heart (RPKM 139.0), Muscle (RPKM 120.8) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Ndufaf1 in Genome Data Viewer
    Location:
    3q35
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (127089893..127104357, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (106639025..106650549, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (111458227..111469239, complement)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene OIP5 antisense RNA 1 Neighboring gene Opa interacting protein 5 Neighboring gene nucleolar and spindle associated protein 1 Neighboring gene 40S ribosomal protein S20 pseudogene Neighboring gene Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) Neighboring gene inositol-trisphosphate 3-kinase A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Human mitochondrial complex I assembly is mediated by NDUFAF1. Vogel RO, et al. FEBS J, 2005 Oct. PMID 16218961
    2. Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. Vogel RO, et al. Genes Dev, 2007 Mar 1. PMID 17344420, Free PMC Article
    3. Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Mootha VK, et al. Cell, 2003 Nov 26. PMID 14651853
    4. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chaperone-mediated protein complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial electron transport, NADH to ubiquinone IBA
    Inferred from Biological aspect of Ancestor
    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 cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    complex I intermediate-associated protein 30, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1
    NADH dehydrogenase (ubiquinone) complex I, assembly factor 1

    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_001106500.1 → NP_001099970.1  complex I intermediate-associated protein 30, mitochondrial

      See identical proteins and their annotated locations for NP_001099970.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473949
      UniProtKB/TrEMBL
      A6HPG9, F1LWG4
      Related
      ENSRNOP00000006874.6, ENSRNOT00000006874.8
      Conserved Domains (1) summary
      pfam08547
      Location:126 → 299
      CIA30; Complex I intermediate-associated protein 30 (CIA30)

    2. NM_001430027.1 → NP_001416956.1  complex I intermediate-associated protein 30, mitochondrial

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A6HPG9, F1LWG4

    3. NM_001430029.1 → NP_001416958.1  complex I intermediate-associated protein 30, mitochondrial

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A6HPG9, F1LWG4

    4. NM_001430031.1 → NP_001416960.1  complex I intermediate-associated protein 30, mitochondrial

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A6HPG9, F1LWG4

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086021.1 Reference GRCr8

      Range
      127089893..127104357 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006234737.4 → XP_006234799.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam08547
      Location:126 → 299
      CIA30; Complex I intermediate-associated protein 30 (CIA30)

    2. XM_006234738.5 → XP_006234800.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam08547
      Location:126 → 299
      CIA30; Complex I intermediate-associated protein 30 (CIA30)

    3. XM_006234739.5 → XP_006234801.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam08547
      Location:126 → 299
      CIA30; Complex I intermediate-associated protein 30 (CIA30)

    4. XM_006234740.5 → XP_006234802.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006234802.1

      UniProtKB/TrEMBL
      A6HPG9, F1LWG4
      Conserved Domains (1) summary
      pfam08547
      Location:126 → 299
      CIA30; Complex I intermediate-associated protein 30 (CIA30)
    Nucleotide Protein Strain
    Heading Accession and Version

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