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NDUFB4 NADH:ubiquinone oxidoreductase subunit B4 [ Homo sapiens (human) ]

Gene ID: 4710, updated on 11-Apr-2024

Summary

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Official Symbol
NDUFB4provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit B4provided by HGNC
Primary source
HGNC:HGNC:7699
See related
Ensembl:ENSG00000065518 MIM:603840; AllianceGenome:HGNC:7699
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
B15; CI-B15
Summary
This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009]
Expression
Ubiquitous expression in adrenal (RPKM 52.4), heart (RPKM 52.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3q13.33
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (120596336..120602507)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (123315896..123322380)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (120315183..120321354)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986121 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:120219013-120219582 Neighboring gene ribosomal protein L34 pseudogene 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:120283490-120283693 Neighboring gene CRISPRi-validated cis-regulatory element chr3.3352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20335 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:120360644-120361843 Neighboring gene homogentisate 1,2-dioxygenase Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:120395854-120396804 Neighboring gene RAB, member of RAS oncogene family like 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:120438328-120438887 Neighboring gene MT-CO1 pseudogene 29

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. Oxidative damage to mitochondrial complex I due to peroxynitrite: identification of reactive tyrosines by mass spectrometry. Murray J, et al. J Biol Chem, 2003 Sep 26. PMID 12857734
  2. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. Loeffen JL, et al. Biochem Biophys Res Commun, 1998 Dec 18. PMID 9878551
  3. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. Mao M, et al. Proc Natl Acad Sci U S A, 1998 Jul 7. PMID 9653160, Free PMC Article
  4. Turnover of the mTOR inhibitor, DEPTOR, and downstream AKT phosphorylation in multiple myeloma cells, is dependent on ERK1-mediated phosphorylation. Vega M, et al. J Biol Chem, 2022 Apr. PMID 35216969, Free PMC Article
  5. The SWI/SNF chromatin remodeling factor DPF3 regulates metastasis of ccRCC by modulating TGF-β signaling. Cui H, et al. Nat Commun, 2022 Aug 9. PMID 35945219, Free PMC Article

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Accessory subunit NDUFB4 participates in mitochondrial complex I supercomplex formation.
    Title: Accessory subunit NDUFB4 participates in mitochondrial complex I supercomplex formation.
  2. 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

  • MGC5105

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
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 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 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 
located_in mitochondrion HDA PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4
Names
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa
NADH-ubiquinone oxidoreductase B15 subunit
complex I B15 subunit
complex I-B15
NP_001161803.1
NP_004538.2

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_001168331.2 → NP_001161803.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 isoform 2

    See identical proteins and their annotated locations for NP_001161803.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate segment, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC034579, BC146885, BC146932, CB215975
    Consensus CDS
    CCDS54630.1
    UniProtKB/Swiss-Prot
    O95168
    Related
    ENSP00000419578.1, ENST00000485064.1
    Conserved Domains (1) summary
    pfam07225
    Location:5 → 117
    NDUF_B4; NADH-ubiquinone oxidoreductase B15 subunit (NDUFB4)

  2. NM_004547.6 → NP_004538.2  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 isoform 1

    See identical proteins and their annotated locations for NP_004538.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
    Source sequence(s)
    AC126182, BC146885
    Consensus CDS
    CCDS2999.1
    UniProtKB/Swiss-Prot
    B2RUY3, B9EJC7, O95168
    Related
    ENSP00000184266.2, ENST00000184266.3
    Conserved Domains (1) summary
    pfam07225
    Location:5 → 128
    NDUF_B4; NADH-ubiquinone oxidoreductase B15 subunit (NDUFB4)

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    120596336..120602507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    123315896..123322380
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95168.3 GenPept UniProtKB/Swiss-Prot:O95168

Gene LinkOut

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