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    NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 [ Homo sapiens (human) ]

    Gene ID: 4705, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NDUFA10provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit A10provided by HGNC
    Primary source
    HGNC:HGNC:7684
    See related
    Ensembl:ENSG00000130414 MIM:603835; AllianceGenome:HGNC:7684
    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
    CI-42k; CI-42KD; MC1DN22
    Summary
    The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]
    Expression
    Ubiquitous expression in heart (RPKM 10.9), kidney (RPKM 7.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFA10 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (239892442..240025342, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (240386242..240518068, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (240831859..240964759, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240582179-240582678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240644837-240645402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240645403-240645968 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:240667929-240669128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240671487-240672397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240674643-240675212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240678616-240679552 Neighboring gene uncharacterized LOC150935 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:240739699-240740285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240741003-240741503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240753063-240753578 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:240835310-240835810 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:240835811-240836311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240842953-240843860 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:240868321-240868542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240884202-240885138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240885139-240886074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240890573-240891072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240894992-240895912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:240895913-240896833 Neighboring gene microRNA 4786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17393 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:240964754-240965583 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:240985203-240986402 Neighboring gene olfactory receptor family 6 subfamily B member 2 Neighboring gene olfactory receptor family 6 subfamily B member 3

    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
    • 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. Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit. Molina-Granada D, et al. Commun Biol, 2022 Jun 23. PMID 35739187, Free PMC Article
    2. NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. Hoefs SJ, et al. Eur J Hum Genet, 2011 Mar. PMID 21150889, Free PMC Article
    3. Mass spectrometric characterization of mitochondrial complex I NDUFA10 variants. Muñoz J, et al. Proteomics, 2008 May. PMID 18442173
    4. Assignment of the gene for the human proliferating cell nucleolar protein P120 (NOL1) to chromosome 12p13 by fluorescence in situ hybridization and polymerase chain reaction with somatic cell hybrids. Baens M, et al. Genomics, 1994 May 1. PMID 8088812
    5. Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering. Zhang H, et al. Biomed Res Int, 2021. PMID 34124242, Free PMC Article

    See all (109) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An Exploration of the Coherent Effects between METTL3 and NDUFA10 on Alzheimer's Disease.
      Title: An Exploration of the Coherent Effects between METTL3 and NDUFA10 on Alzheimer's Disease.
    2. Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit.
      Title: Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit.
    3. Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering.
      Title: Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering.
    4. NDUFA10 was found to be differentially methylated and expressed in human squamous cell carcinomas.
      Title: FOXM1 induces a global methylation signature that mimics the cancer epigenome in head and neck squamous cell carcinoma.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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 22
    MedGen: C4748796 OMIM: 618243 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Identification of regions associated with variation in sensitivity to food-related odors in the human genome.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (NDUFA10) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Clone Names

    • MGC5103, FLJ21923

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    part_of respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial
    Names
    NADH-ubiquinone oxidoreductase 42 kDa subunit
    complex I 42kDa subunit
    NP_001308948.1
    NP_001308949.1
    NP_001397916.1
    NP_004535.1
    XP_047300443.1
    XP_054198227.1

    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_031855.2 RefSeqGene

      Range
      5061..73031
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001322019.2 → NP_001308948.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013469
      Consensus CDS
      CCDS92984.1
      UniProtKB/TrEMBL
      A0A7I2V2W9, H7C2X4
      Related
      ENSP00000408224.2, ENST00000448880.6
      Conserved Domains (1) summary
      cd02030
      Location:59 → 277
      NDUO42; NADH:Ubiquinone oxioreductase, 42 kDa (NDUO42) is a family of proteins that are highly similar to deoxyribonucleoside kinases (dNK). Members of this family have been identified as one of the subunits of NADH:Ubiquinone oxioreductase (complex I), a ...

    2. NM_001322020.2 → NP_001308949.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC013469, AC114750
      Consensus CDS
      CCDS92982.1
      UniProtKB/TrEMBL
      A0A7I2V438, Q53SW4
      Related
      ENSP00000503837.1, ENST00000679158.1
      Conserved Domains (1) summary
      cd02030
      Location:59 → 277
      NDUO42; NADH:Ubiquinone oxioreductase, 42 kDa (NDUO42) is a family of proteins that are highly similar to deoxyribonucleoside kinases (dNK). Members of this family have been identified as one of the subunits of NADH:Ubiquinone oxioreductase (complex I), a ...

    3. NM_001410987.1 → NP_001397916.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC013469, AC114750
      Consensus CDS
      CCDS92983.1
      UniProtKB/TrEMBL
      H7C1Y7
      Related
      ENSP00000403080.2, ENST00000444548.6

    4. NM_004544.4 → NP_004535.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_004535.1

      Status: REVIEWED

      Source sequence(s)
      AC013469, AC114750, AK025576
      Consensus CDS
      CCDS2531.1
      UniProtKB/Swiss-Prot
      O95299, Q8WXC9
      UniProtKB/TrEMBL
      A0A7I2V594, A8K413
      Related
      ENSP00000252711.2, ENST00000252711.7
      Conserved Domains (1) summary
      cd02030
      Location:59 → 277
      NDUO42; NADH:Ubiquinone oxioreductase, 42 kDa (NDUO42) is a family of proteins that are highly similar to deoxyribonucleoside kinases (dNK). Members of this family have been identified as one of the subunits of NADH:Ubiquinone oxioreductase (complex I), a ...

    RNA

    1. NR_136155.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AB209440, AC114750, AK025576, BP208667
      Related
      ENST00000678562.1

    2. NR_136156.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC013469, AC114750

    3. NR_136157.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC013469, AC114750

    4. NR_136158.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC013469, AC114750, AC233275
      Related
      ENST00000677057.1

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      239892442..240025342 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444487.1 → XP_047300443.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A7I2V5L0
      Related
      ENSP00000504547.1, ENST00000677764.1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332689.1 Reference GRCh38.p14 PATCHES

      Range
      195545..198421 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      240386242..240518068 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342252.1 → XP_054198227.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A7I2V5L0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95299.1 GenPept UniProtKB/Swiss-Prot:O95299

    Gene LinkOut

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

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