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

Gene ID: 4705, updated on 2-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
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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 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
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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)

Genotypes

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

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