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    NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 [ Homo sapiens (human) ]

    Gene ID: 284184, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NDUFAF8provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase complex assembly factor 8provided by HGNC
    Primary source
    HGNC:HGNC:33551
    See related
    Ensembl:ENSG00000224877 MIM:618461; AllianceGenome:HGNC:33551
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MC1DN34; C17orf89
    Summary
    Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial matrix. Implicated in nuclear type mitochondrial complex I deficiency 34. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 16.9), kidney (RPKM 16.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFAF8 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81239311..81241310)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82148434..82150433)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79213111..79215110)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371925 Neighboring gene uncharacterized LOC124904081 Neighboring gene TEPSIN adaptor related protein complex 4 accessory protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79212179-79212761 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79212737-79212952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12956 Neighboring gene Sharpr-MPRA regulatory region 11657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12959 Neighboring gene solute carrier family 38 member 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79225481-79226148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79228507-79229198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79255689-79256202 Neighboring gene Sharpr-MPRA regulatory region 13761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12961 Neighboring gene uncharacterized LOC124904082

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. Alston CL, et al. Am J Hum Genet, 2020 Jan 2. PMID 31866046, Free PMC Article
    2. A two-step mitochondrial import pathway couples the disulfide relay with matrix complex I biogenesis. Peker E, et al. J Cell Biol, 2023 Jul 3. PMID 37159021, Free PMC Article
    3. Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry. Molina H, et al. Proc Natl Acad Sci U S A, 2007 Feb 13. PMID 17287340, Free PMC Article
    4. Gene Essentiality Profiling Reveals Gene Networks and Synthetic Lethal Interactions with Oncogenic Ras. Wang T, et al. Cell, 2017 Feb 23. PMID 28162770, Free PMC Article
    5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
      Title: Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial complex 1 deficiency, nuclear type 34
    MedGen: C5394053 OMIM: 618776 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 
    Process Evidence Code Pubs
    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 
    Component Evidence Code Pubs
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8

    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_001086521.2 → NP_001079990.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 isoform 2

      See identical proteins and their annotated locations for NP_001079990.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AA534550, AC027601, BC127837
      Consensus CDS
      CCDS45809.1
      UniProtKB/Swiss-Prot
      A1L188
      Related
      ENSP00000400184.2, ENST00000431388.3

    2. NM_001353402.1 → NP_001340331.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC027601

    3. NM_001353403.1 → NP_001340332.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC027601
      Related
      ENST00000573090.1

    RNA

    1. NR_148426.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' end compared to variant 1.
      Source sequence(s)
      AC027601
      Related
      ENST00000573173.1

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81239311..81241310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82148434..82150433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A1L188.1 GenPept UniProtKB/Swiss-Prot:A1L188

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