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

Gene ID: 4725, updated on 11-Apr-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
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Genomic context

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Location:
1p34.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (39026350..39034615)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (38893542..38901803)
105.20220307 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
  • 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. Genetic variants of Complex I in multiple sclerosis. Vyshkina T, et al. J Neurol Sci, 2005 Jan 15. PMID 15607211
  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. 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
  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. 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. Iwahana T, et al. BMC Cardiovasc Disord, 2020 Mar 5. PMID 32138671, Free PMC Article

See all (49) 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 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
  
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 
located_in mitochondrion IDA
Inferred from Direct Assay
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_2023_10

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

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