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    NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 [ Homo sapiens (human) ]

    Gene ID: 25915, updated on 8-Jul-2021

    Summary

    Official Symbol
    NDUFAF3provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase complex assembly factor 3provided by HGNC
    Primary source
    HGNC:HGNC:29918
    See related
    Ensembl:ENSG00000178057 MIM:612911
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    2P1; E3-3; C3orf60; MC1DN18
    Summary
    This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]
    Expression
    Broad expression in testis (RPKM 52.4), fat (RPKM 20.6) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NDUFAF3 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (49020452..49023495)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49057885..49060928)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 6 Neighboring gene DALR anticodon binding domain containing 3 Neighboring gene microRNA 425 Neighboring gene microRNA 191 Neighboring gene inosine monophosphate dehydrogenase 2 Neighboring gene glutamine rich 1 Neighboring gene RNA, 7SL, cytoplasmic 182, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 (NDUFAF3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC10527, DKFZp564J0123

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial respiratory chain complex I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
     

    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)

    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.

    Genomic

    1. NG_016282.1 RefSeqGene

      Range
      5001..8021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_199069.2NP_951032.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform a precursor

      See identical proteins and their annotated locations for NP_951032.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AA907148, BC002873
      Consensus CDS
      CCDS2784.1
      UniProtKB/Swiss-Prot
      Q9BU61
      UniProtKB/TrEMBL
      Q9Y3Z0
      Related
      ENSP00000323076.5, ENST00000326925.11
      Conserved Domains (1) summary
      cd05125
      Location:58171
      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_199070.2NP_951033.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b

      See identical proteins and their annotated locations for NP_951033.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3 and 4 encode the same isoform.
      Source sequence(s)
      AA907148, AL049955
      Consensus CDS
      CCDS2785.1
      UniProtKB/TrEMBL
      A4FU71, Q9Y3Z0
      Related
      ENSP00000402465.2, ENST00000451378.2
      Conserved Domains (1) summary
      cd05125
      Location:1114
      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 ...
    3. NM_199073.2NP_951047.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b

      See identical proteins and their annotated locations for NP_951047.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3 and 4 encode the same isoform.
      Source sequence(s)
      AA907148, AC137630, CD358942
      Consensus CDS
      CCDS2785.1
      UniProtKB/TrEMBL
      A4FU71
      Related
      ENSP00000378843.2, ENST00000395458.6
      Conserved Domains (1) summary
      cd05125
      Location:1114
      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 ...
    4. NM_199074.2NP_951056.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b

      See identical proteins and their annotated locations for NP_951056.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3 and 4 encode the same isoform.
      Source sequence(s)
      AA907148, AC137630, BQ652614
      Consensus CDS
      CCDS2785.1
      UniProtKB/TrEMBL
      A4FU71
      Related
      ENSP00000323003.4, ENST00000326912.8
      Conserved Domains (1) summary
      cd05125
      Location:1114
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      49020452..49023495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199417.1: Suppressed sequence

      Description
      NM_199417.1: This RefSeq was permanently suppressed because the transcript contains intronic sequence.
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