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    Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 56769, updated on 9-Dec-2024

    Summary

    Official Symbol
    Ndufaf3provided by RGD
    Official Full Name
    NADH:ubiquinone oxidoreductase complex assembly factor 3provided by RGD
    Primary source
    RGD:708545
    See related
    EnsemblRapid:ENSRNOG00000020068 AllianceGenome:RGD:708545
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD708545
    Summary
    This gene encodes a protein that is required for assembly of mitochondrial NADH: ubiquinone oxidoreductase complex I, a multiprotein enzyme complex that is part of the oxidative phosphorylation pathway. In humans, mutations in this gene are associated with fatal neonatal mitochondrial disease and lactic acidosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
    Expression
    Biased expression in Testes (RPKM 257.0), Heart (RPKM 106.0) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Ndufaf3 in Genome Data Viewer
    Location:
    8q32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (118139891..118141723, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (109261362..109263194, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (117351628..117353460, complement)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene glutaminyl-tRNA synthetase 1 Neighboring gene glutamine-rich 1 Neighboring gene inosine monophosphate dehydrogenase 2 Neighboring gene microRNA 3555 Neighboring gene DALR anticodon binding domain containing 3 Neighboring gene microRNA 191 Neighboring gene microRNA 425

    Genomic regions, transcripts, and products

    Expression

    • 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

    Pathways from PubChem

    General gene information

    Clone Names

    • MGC94445

    Gene Ontology Provided by RGD

    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane  
    located_in mitochondrial inner membrane  
    located_in mitochondrion PubMed 
    located_in nucleus  
    located_in nucleus  

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
    Names
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3
    NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
    nuclear protein E3-3

    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_001033971.2NP_001029143.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b

      See identical proteins and their annotated locations for NP_001029143.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform b, which is shorter than isoform a.
      Source sequence(s)
      BC079306, JAXUCZ010000008
      UniProtKB/TrEMBL
      A6I368
      Conserved Domains (1) summary
      cd05125
      Location:53166
      Mth938_2P1-like; Mth938_2P1-like domain. This model contains sequences that are similar to 2P1, a partially characterized nuclear protein, which is homologous to E3-3 from rat and known to be alternatively spliced. Its function is unknown. This family is part of the ...
    2. NM_020080.3NP_064465.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform a

      See identical proteins and their annotated locations for NP_064465.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC079306, CB609164, JAXUCZ010000008
      UniProtKB/Swiss-Prot
      O08776, O08777, Q6AXV1, Q78E24
      UniProtKB/TrEMBL
      A6I367, A6I368
      Related
      ENSRNOP00000027262.6, ENSRNOT00000027262.7
      Conserved Domains (1) summary
      cd05125
      Location:59172
      Mth938_2P1-like; Mth938_2P1-like domain. This model contains sequences that are similar to 2P1, a partially characterized nuclear protein, which is homologous to E3-3 from rat and known to be alternatively spliced. Its function is unknown. This family is part of the ...

    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_086026.1 Reference GRCr8

      Range
      118139891..118141723 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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