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    NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 [ Homo sapiens (human) ]

    Gene ID: 51103, updated on 8-Jul-2021

    Summary

    Official Symbol
    NDUFAF1provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase complex assembly factor 1provided by HGNC
    Primary source
    HGNC:HGNC:18828
    See related
    Ensembl:ENSG00000137806 MIM:606934
    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
    CGI65; CIA30; CGI-65; MC1DN11
    Summary
    This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in adrenal (RPKM 10.5), testis (RPKM 9.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NDUFAF1 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (41387353..41402501, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41679551..41694694, complement)

    Chromosome 15 - NC_000015.10Genomic 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 RTF1 homolog, Paf1/RNA polymerase II complex component Neighboring gene RNA, U6 small nuclear 1169, pseudogene Neighboring gene uncharacterized LOC105370790

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    GeneReviews: Not available
    Mitochondrial complex 1 deficiency, nuclear type 11
    MedGen: C4748769 OMIM: 618234 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables unfolded protein binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    part_of mitochondrial respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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
    NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1

    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_031924.1 RefSeqGene

      Range
      4965..20108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016013.4NP_057097.2  complex I intermediate-associated protein 30, mitochondrial precursor

      See identical proteins and their annotated locations for NP_057097.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and is protein-coding.
      Source sequence(s)
      AC087721, AK309889, BC000780
      Consensus CDS
      CCDS10075.1
      UniProtKB/Swiss-Prot
      Q9Y375
      UniProtKB/TrEMBL
      A0A024R9L0
      Related
      ENSP00000260361.4, ENST00000260361.9
      Conserved Domains (2) summary
      pfam08547
      Location:125298
      CIA30; Complex I intermediate-associated protein 30 (CIA30)
      cl17169
      Location:14101
      RRM_SF; RNA recognition motif (RRM) superfamily

    RNA

    1. NR_045620.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC087721, AI911511, AK309889, AK310983
      Related
      ENST00000559127.5

    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_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      41387353..41402501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449945.1XP_024305713.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

      Related
      ENSP00000504040.1, ENST00000676533.1
      Conserved Domains (2) summary
      pfam08547
      Location:125278
      CIA30; Complex I intermediate-associated protein 30 (CIA30)
      cl17169
      Location:14101
      RRM_SF; RNA recognition motif (RRM) superfamily
    2. XM_006720555.3XP_006720618.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006720618.1

      UniProtKB/Swiss-Prot
      Q9Y375
      UniProtKB/TrEMBL
      A0A024R9L0
      Related
      ENSP00000453944.2, ENST00000560978.2
      Conserved Domains (2) summary
      pfam08547
      Location:125298
      CIA30; Complex I intermediate-associated protein 30 (CIA30)
      cl17169
      Location:14101
      RRM_SF; RNA recognition motif (RRM) superfamily
    3. XM_011521659.3XP_011519961.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

      Related
      ENSP00000504295.1, ENST00000679094.1
      Conserved Domains (2) summary
      pfam08547
      Location:125278
      CIA30; Complex I intermediate-associated protein 30 (CIA30)
      cl17169
      Location:14101
      RRM_SF; RNA recognition motif (RRM) superfamily
    4. XM_011521658.1XP_011519960.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011519960.1

      UniProtKB/Swiss-Prot
      Q9Y375
      UniProtKB/TrEMBL
      A0A024R9L0
      Conserved Domains (2) summary
      pfam08547
      Location:125298
      CIA30; Complex I intermediate-associated protein 30 (CIA30)
      cl17169
      Location:14101
      RRM_SF; RNA recognition motif (RRM) superfamily
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