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    NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 [ Homo sapiens (human) ]

    Gene ID: 4725, updated on 28-Oct-2024

    Summary

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    Official Symbol
    NDUFS5provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit S5provided by HGNC
    Primary source
    HGNC:HGNC:7712
    See related
    Ensembl:ENSG00000168653 MIM:603847; AllianceGenome:HGNC:7712
    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
    CI15K; CI-15k
    Summary
    This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in heart (RPKM 174.0), fat (RPKM 138.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFS5 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (39026350..39034615)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (38893542..38901803)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (39492022..39500287)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:39456070-39456842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 691 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:39465981-39466886 Neighboring gene Sharpr-MPRA regulatory region 593 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7850 Neighboring gene eukaryotic translation initiation factor 1 pseudogene 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39480053-39480552 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39482837-39483545 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7860 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39491963-39492549 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39492550-39493135 Neighboring gene akirin 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39493906-39494071 Neighboring gene uncharacterized LOC124904088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 800 Neighboring gene NANOG hESC enhancer GRCh37_chr1:39517634-39518135 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39530834-39531126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 803 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:39568667-39569222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 804 Neighboring gene microtubule actin crosslinking factor 1 Neighboring gene RNA, U6 small nuclear 608, pseudogene

    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. Usefulness of intracoronary injection of acetylcholine as a provocative test for coronary artery spasm in patients with vasospastic angina. Miwa K, et al. Heart Vessels, 1991. PMID 1906457
    2. The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients. Loeffen J, et al. J Inherit Metab Dis, 1999 Feb. PMID 10070614
    3. Genetic variants of Complex I in multiple sclerosis. Vyshkina T, et al. J Neurol Sci, 2005 Jan 15. PMID 15607211
    4. AIFM1 is a component of the mitochondrial disulfide relay that drives complex I assembly through efficient import of NDUFS5. Salscheider SL, et al. EMBO J, 2022 Sep 1. PMID 35859387, Free PMC Article
    5. Analysis of whole genomic expression profiles of Helicobacter pylori related chronic atrophic gastritis with IL-1B-31CC/-511TT genotypes. Wang SY, et al. J Dig Dis, 2009 May. PMID 19426391

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AIFM1 is a component of the mitochondrial disulfide relay that drives complex I assembly through efficient import of NDUFS5.
      Title: AIFM1 is a component of the mitochondrial disulfide relay that drives complex I assembly through efficient import of NDUFS5.
    2. Novel myocardial markers GADD45G and NDUFS5 identified by RNA-sequencing predicts left ventricular reverse remodeling in advanced non-ischemic heart failure: a retrospective cohort study.
      Title: Novel myocardial markers GADD45G and NDUFS5 identified by RNA-sequencing predicts left ventricular reverse remodeling in advanced non-ischemic heart failure: a retrospective cohort study.
    3. This subunit of complex I is localized in the mitochondrial inter-membrane space. The protein contains intra-molecular disulfide bridges in the twin Cx(9)C motif. Does not contain an Fe-S cluster (despite what's suggested by the name).
      Title: NDUFB7 and NDUFA8 are located at the intermembrane surface of 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

    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

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    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 intermembrane space IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 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] iron-sulfur protein 5
    Names
    CI-15 kDa
    NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)
    NADH:ubiquinone oxidoreductase 15 kDa IP subunit
    complex I-15 kDa
    NP_001171908.1
    NP_004543.1

    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_028193.1 RefSeqGene

      Range
      5056..13321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184979.2 → NP_001171908.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 5

      See identical proteins and their annotated locations for NP_001171908.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL606465, BC001884
      Consensus CDS
      CCDS434.1
      UniProtKB/Swiss-Prot
      O43920
      UniProtKB/TrEMBL
      D3DPT9, Q6IBA0
      Related
      ENSP00000362058.3, ENST00000372967.3
      Conserved Domains (1) summary
      pfam10200
      Location:2 → 96
      Ndufs5; NADH:ubiquinone oxidoreductase, NDUFS5-15kDa

    2. NM_004552.3 → NP_004543.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 5

      See identical proteins and their annotated locations for NP_004543.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI244607, AL606465, BC093057
      Consensus CDS
      CCDS434.1
      UniProtKB/Swiss-Prot
      O43920
      UniProtKB/TrEMBL
      D3DPT9, Q6IBA0
      Related
      ENSP00000362060.3, ENST00000372969.8
      Conserved Domains (1) summary
      pfam10200
      Location:2 → 96
      Ndufs5; NADH:ubiquinone oxidoreductase, NDUFS5-15kDa

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      39026350..39034615
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      38893542..38901803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43920.3 GenPept UniProtKB/Swiss-Prot:O43920

    Gene LinkOut

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

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