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

Gene ID: 4698, updated on 11-Apr-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
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Genomic context

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Location:
7q31.32
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (123536997..123601651, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (124853763..124918422, complement)
105.20220307 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. 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
  3. 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
  4. 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
  5. Gene expression patterns of oxidative phosphorylation complex I subunits are organized in clusters. Garbian Y, et al. PLoS One, 2010 Apr 1. PMID 20376309, Free PMC Article

See all (95) 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)

Genotypes

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 respiratory electron transport chain IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
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
  
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 IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of mitochondrial 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_2023_10

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

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