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    NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 [ Homo sapiens (human) ]

    Gene ID: 4698, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NDUFA5provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit A5provided by HGNC
    Primary source
    HGNC:HGNC:7688
    See related
    Ensembl:ENSG00000128609 MIM:601677; AllianceGenome:HGNC:7688
    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
    B13; NUFM; UQOR13; CI-13kB; CI-13KD-B
    Summary
    This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]
    Expression
    Ubiquitous expression in thyroid (RPKM 21.8), heart (RPKM 20.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFA5 in Genome Data Viewer
    Location:
    7q31.32
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (123536997..123601651, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (124853763..124918422, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (123177051..123241705, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 296, pseudogene Neighboring gene IQ motif and ubiquitin domain containing Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:123167408-123168034 Neighboring gene uncharacterized LOC124901740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26567 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:123197145-123198344 Neighboring gene ankyrin repeat and SOCS box containing 15 Neighboring gene Sharpr-MPRA regulatory region 8884 Neighboring gene ASB15 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:123269048-123269605 Neighboring gene leiomodin 2

    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. Downregulation of the expression of mitochondrial electron transport complex genes in autism brains. Anitha A, et al. Brain Pathol, 2013 May. PMID 23088660, Free PMC Article
    2. A human cDNA encoding the homologue of NADH: ubiquinone oxidoreductase subunit B13. Pata I, et al. Biochim Biophys Acta, 1997 Feb 7. PMID 9048877
    3. Spatial distribution of cellular function: the partitioning of proteins between mitochondria and the nucleus in MCF7 breast cancer cells. Qattan AT, et al. J Proteome Res, 2012 Dec 7. PMID 23051583, Free PMC Article
    4. Decreased expression of genes involved in oxidative phosphorylation in human pancreatic islets from patients with type 2 diabetes. Olsson AH, et al. Eur J Endocrinol, 2011 Oct. PMID 21775499, Free PMC Article
    5. The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism. Marui T, et al. Acta Psychiatr Scand, 2011 Feb. PMID 20825370

    See all (110) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. SNPs rs12666974 and rs3779262 significantly associated with autism
      Title: The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • FLJ12147, DKFZp781K1356

    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 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
    		  
    involved_in respiratory electron transport chain IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    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 mitochondrion HTP PubMed 
    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 5
    Names
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
    NADH-ubiquinone oxidoreductase 13 kDa-B subunit
    complex I 13kDa subunit B
    complex I subunit B13
    type I dehydrogenase
    ubiquinone reductase
    NP_001269348.1
    NP_001269349.1
    NP_001269350.1
    NP_001269351.1
    NP_001278233.1
    NP_004991.1
    XP_024302539.1
    XP_054214242.1

    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.

    mRNA and Protein(s)

    1. NM_001282419.3 → NP_001269348.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 2

      See identical proteins and their annotated locations for NP_001269348.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC073323, AV713284, BC000813, CR933664
      Consensus CDS
      CCDS75655.1
      UniProtKB/TrEMBL
      A0A087X1G1, A0A7I2V2W4
      Related
      ENSP00000484180.1, ENST00000611607.4
      Conserved Domains (1) summary
      pfam04716
      Location:9 → 63
      ETC_C1_NDUFA5; ETC complex I subunit conserved region

    2. NM_001282420.3 → NP_001269349.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 3

      See identical proteins and their annotated locations for NP_001269349.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is the same length as isoform 1 but has a distinct N-terminus.
      Source sequence(s)
      AC073323
      Consensus CDS
      CCDS64760.1
      UniProtKB/TrEMBL
      A0A7I2V2W4
      Related
      ENSP00000417142.1, ENST00000471770.5
      Conserved Domains (1) summary
      pfam04716
      Location:13 → 78
      ETC_C1_NDUFA5; ETC complex I subunit conserved region

    3. NM_001282421.3 → NP_001269350.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 4

      See identical proteins and their annotated locations for NP_001269350.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter than isoform 1 and has a distinct N-terminus.
      Source sequence(s)
      AC073323, BC000813, CR933664, W44870
      UniProtKB/TrEMBL
      A0A7I2V2W4
      Conserved Domains (1) summary
      pfam04716
      Location:16 → 69
      ETC_C1_NDUFA5; ETC complex I subunit conserved region

    4. NM_001282422.3 → NP_001269351.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 5

      See identical proteins and their annotated locations for NP_001269351.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AC073323, BC000813, BG611486, CR933664
      Consensus CDS
      CCDS75656.1
      UniProtKB/TrEMBL
      A0A087WXR5
      Related
      ENSP00000481232.1, ENST00000618945.4

    5. NM_001291304.2 → NP_001278233.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) represents use of an alternate promoter, compared to variant 1. It contains an distinct 5' UTR and 5' coding region and initiates translation at an alternate start codon. The encoded isoform (6) is longer than isoform 1 and has a distinct N-terminus.
      Source sequence(s)
      AC006333, AC073323
      Conserved Domains (1) summary
      pfam04716
      Location:89 → 145
      ETC_C1_NDUFA5; ETC complex I subunit conserved region

    6. NM_005000.5 → NP_004991.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 1

      See identical proteins and their annotated locations for NP_004991.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC073323, BC000813, CR933664
      Consensus CDS
      CCDS5788.1
      UniProtKB/Swiss-Prot
      B2RD98, Q16718, Q5H9R2, Q6IRX7
      UniProtKB/TrEMBL
      H7BYD0
      Related
      ENSP00000347988.2, ENST00000355749.7
      Conserved Domains (1) summary
      pfam04716
      Location:13 → 78
      ETC_C1_NDUFA5; ETC complex I subunit conserved region

    RNA

    1. NR_104168.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC073323, BC000813, BG400546, CR933664

    2. NR_104169.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) 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)
      AC073323, BC000813, BF671339, CR933664

    3. NR_111925.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC073323

    4. NR_111926.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006333, AC073323

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      123536997..123601651 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446771.2 → XP_024302539.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform X1

      UniProtKB/TrEMBL
      A0A024R772
      Related
      ENSP00000504636.1, ENST00000677251.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      124853763..124918422 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358267.1 → XP_054214242.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform X1

      UniProtKB/TrEMBL
      A0A024R772
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16718.3 GenPept UniProtKB/Swiss-Prot:Q16718

    Gene LinkOut

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