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

    Gene ID: 51103, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:18828
    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
    mouse all
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    Genomic context

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    See NDUFAF1 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (41387353..41403026, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (39193517..39209187, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 9279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41628937-41629558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41629559-41630180 Neighboring gene nucleolar and spindle associated protein 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:41675757-41676295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9281 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:41723973-41724473 Neighboring gene RTF1 homolog, Paf1/RNA polymerase II complex component Neighboring gene RNA, U6 small nuclear 1169, pseudogene Neighboring gene uncharacterized LOC105370790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9282

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. Wu L, et al. Mitochondrial DNA A DNA Mapp Seq Anal, 2016. PMID 24963768
    2. Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I). Küffner R, et al. J Mol Biol, 1998 Oct 23. PMID 9769214
    3. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. Dunning CJ, et al. EMBO J, 2007 Jul 11. PMID 17557076, Free PMC Article
    4. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. Fassone E, et al. J Med Genet, 2011 Oct. PMID 21931170
    5. Identification of NDUFAF1 in mediating K-Ras induced mitochondrial dysfunction by a proteomic screening approach. Wang P, et al. Oncotarget, 2015 Feb 28. PMID 25714130, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. a case of leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.
      Title: Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.
    2. oncogenic K-Ras is able to induce significant alterations in mitochondrial protein expression, and identified NDUFAF1 as an important molecule whose low expression contributes to mitochondrial dysfunction induced by K-Ras.
      Title: Identification of NDUFAF1 in mediating K-Ras induced mitochondrial dysfunction by a proteomic screening approach.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    4. CIA30 is a crucial component in the early assembly of complex I and mutations in its gene can cause mitochondrial disease
      Title: Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
    5. Study shows a mitochondrial function for Ecsit in the assembly of mitochondrial complex I, an N-terminal targeting signal directs Ecsit to mitochondria, where it interacts with assembly chaperone NDUFAF1.
      Title: Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.
    6. the involvement of NDUFAF1 in the assembly process could be indirect rather than direct via the binding to assembly intermediates
      Title: Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.
    7. NDUFAF1 is an important protein for the assembly/stability of complex I (NADH:ubiquinone oxidoreductase).
      Title: Human mitochondrial complex I assembly is mediated by NDUFAF1.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial complex 1 deficiency, nuclear type 11
    MedGen: C4748769 OMIM: 618234 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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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    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
    		  
    enables unfolded protein binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chaperone-mediated protein complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein-containing complex assembly 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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    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
    NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 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.

    Genomic

    1. NG_031924.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_016013.4 → NP_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
      Q9BVZ5, Q9Y375
      UniProtKB/TrEMBL
      A0A7I2V4I7
      Related
      ENSP00000260361.4, ENST00000260361.9
      Conserved Domains (2) summary
      pfam08547
      Location:125 → 298
      CIA30; Complex I intermediate-associated protein 30 (CIA30)
      cl17169
      Location:14 → 101
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      41387353..41403026 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432637.1 → XP_047288593.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q9BVZ5, Q9Y375

    2. XM_024449945.2 → XP_024305713.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A7I2V4I7
      Related
      ENSP00000504040.1, ENST00000676533.1
      Conserved Domains (2) summary
      pfam08547
      Location:125 → 278
      CIA30; Complex I intermediate-associated protein 30 (CIA30)
      cl17169
      Location:14 → 101
      RRM_SF; RNA recognition motif (RRM) superfamily

    3. XM_006720555.4 → XP_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
      Q9BVZ5, Q9Y375
      UniProtKB/TrEMBL
      A0A7I2V4I7
      Related
      ENSP00000453944.2, ENST00000560978.2
      Conserved Domains (2) summary
      pfam08547
      Location:125 → 298
      CIA30; Complex I intermediate-associated protein 30 (CIA30)
      cl17169
      Location:14 → 101
      RRM_SF; RNA recognition motif (RRM) superfamily

    4. XM_047432638.1 → XP_047288594.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

    5. XM_011521658.2 → XP_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
      Q9BVZ5, Q9Y375
      UniProtKB/TrEMBL
      A0A7I2V4I7
      Conserved Domains (2) summary
      pfam08547
      Location:125 → 298
      CIA30; Complex I intermediate-associated protein 30 (CIA30)
      cl17169
      Location:14 → 101
      RRM_SF; RNA recognition motif (RRM) superfamily

    6. XM_011521659.4 → XP_011519961.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A7I2V4I7
      Related
      ENSP00000504295.1, ENST00000679094.1
      Conserved Domains (2) summary
      pfam08547
      Location:125 → 278
      CIA30; Complex I intermediate-associated protein 30 (CIA30)
      cl17169
      Location:14 → 101
      RRM_SF; RNA recognition motif (RRM) superfamily

    RNA

    1. XR_007064450.1 RNA Sequence

    2. XR_007064451.1 RNA Sequence

    3. XR_007064449.1 RNA Sequence

      Related
      ENST00000678745.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      39193517..39209187 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378139.1 → XP_054234114.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q9BVZ5, Q9Y375

    2. XM_054378138.1 → XP_054234113.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q9BVZ5, Q9Y375

    3. XM_054378142.1 → XP_054234117.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

    4. XM_054378141.1 → XP_054234116.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

    5. XM_054378140.1 → XP_054234115.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q9BVZ5, Q9Y375

    6. XM_054378143.1 → XP_054234118.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

    RNA

    1. XR_008488956.1 RNA Sequence

    2. XR_008488955.1 RNA Sequence

    3. XR_008488957.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y375.2 GenPept UniProtKB/Swiss-Prot:Q9Y375

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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