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    NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 [ Homo sapiens (human) ]

    Gene ID: 55967, updated on 13-Apr-2024

    Summary

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    Official Symbol
    NDUFA12provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit A12provided by HGNC
    Primary source
    HGNC:HGNC:23987
    See related
    Ensembl:ENSG00000184752 MIM:614530; AllianceGenome:HGNC:23987
    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
    B17.2; DAP13; MC1DN23
    Summary
    This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
    Expression
    Ubiquitous expression in heart (RPKM 72.7), colon (RPKM 50.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (94971333..95003697, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (94952013..94984403, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (95365109..95397473, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:95228077-95228576 Neighboring gene keratin 19 pseudogene 2 Neighboring gene microRNA 492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4734 Neighboring gene uncharacterized LOC105369915 Neighboring gene NANOG hESC enhancer GRCh37_chr12:95316310-95316850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4735 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:95353619-95353879 Neighboring gene NANOG hESC enhancer GRCh37_chr12:95383137-95383648 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:95397104-95397731 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:95416774-95417006 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:95448437-95449289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:95449290-95450141 Neighboring gene nuclear receptor subfamily 2 group C member 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:95466981-95467481 Neighboring gene peroxiredoxin 6 pseudogene Neighboring gene FYVE, RhoGEF and PH domain containing 6

    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. Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Torraco A, et al. Hum Mutat, 2021 Jun. PMID 33715266
    2. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. Ostergaard E, et al. J Med Genet, 2011 Nov. PMID 21617257
    3. Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients. Triepels R, et al. Hum Genet, 2000 Apr. PMID 10830904
    4. Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I. Rak M, et al. FEBS Lett, 2014 May 2. PMID 24717771
    5. NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. Adjobo-Hermans MJW, et al. Biochim Biophys Acta Bioenerg, 2020 Aug 1. PMID 32335026

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
      Title: Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
    2. NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.
      Title: NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.
    3. NDUFA3, NDUFA5 and NDUFA12 supernumerary subunits are necessary for complex I activity and biogenesis.
      Title: Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I.
    4. 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 23
    MedGen: C4748799 OMIM: 618244 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)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial ATP synthesis coupled electron transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in respiratory gaseous exchange by respiratory system NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    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
    		  
    part_of mitochondrial respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial respiratory chain complex I IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    part_of mitochondrial respiratory chain complex I IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
    Names
    13 kDa differentiation-associated protein
    CI-B17.2
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
    NADH-ubiquinone oxidoreductase subunit B17.2
    complex I B17.2 subunit
    NP_001245267.1
    NP_061326.1

    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_032672.1 RefSeqGene

      Range
      5017..37381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001258338.2 → NP_001245267.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform b

      See identical proteins and their annotated locations for NP_001245267.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon which results in a frameshift and an early stop codon compared to variant 1. The resulting protein (isoform b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BG943528, BU532909, DW441120
      Consensus CDS
      CCDS58263.1
      UniProtKB/TrEMBL
      A0A804HJF8
      Related
      ENSP00000450130.1, ENST00000547986.5
      Conserved Domains (1) summary
      cl01534
      Location:37 → 57
      NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

    2. NM_018838.5 → NP_061326.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform a

      See identical proteins and their annotated locations for NP_061326.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform a).
      Source sequence(s)
      AC011598, BC005936, BG943528
      Consensus CDS
      CCDS9050.1
      UniProtKB/Swiss-Prot
      F8VQS7, Q53XX0, Q9BRV6, Q9UI09
      UniProtKB/TrEMBL
      Q53HG1
      Related
      ENSP00000330737.2, ENST00000327772.7
      Conserved Domains (1) summary
      pfam05071
      Location:37 → 137
      NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      94971333..95003697 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      94952013..94984403 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UI09.1 GenPept UniProtKB/Swiss-Prot:Q9UI09

    Gene LinkOut

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

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