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NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 [ Homo sapiens (human) ]

Gene ID: 4709, updated on 2-Nov-2024

Summary

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Official Symbol
NDUFB3provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit B3provided by HGNC
Primary source
HGNC:HGNC:7698
See related
Ensembl:ENSG00000119013 MIM:603839; AllianceGenome:HGNC:7698
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
B12; CI-B12; MC1DN25
Summary
This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in kidney (RPKM 29.7), colon (RPKM 28.4) and 24 other tissues See more
Orthologs
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Genomic context

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See NDUFB3 in Genome Data Viewer
Location:
2q33.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201072001..201085750)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (201555443..201569193)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201936724..201950473)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene hyccin PI4KA lipid kinase complex subunit 2 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16971 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:201935997-201936622 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:201936623-201937246 Neighboring gene ribosomal protein L23a pseudogene 30 Neighboring gene RNA, U6 small nuclear 1206, pseudogene Neighboring gene uncharacterized LOC105373836 Neighboring gene ribosomal protein L17 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12229 Neighboring gene CASP8 and FADD like apoptosis regulator

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. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. Ton C, et al. Biochem Biophys Res Commun, 1997 Dec 18. PMID 9425316
  2. Assignment of human NADH dehydrogenase (ubiquinone) 1 beta subcomplex 3 (NDUFB3) and of its four pseudogenes to human chromosomes 2q31.3, 1p13.3-->p13.1, 9q32-->q34.1, 14q22.3-->q23.1 and 14q32.2 by radiation hybrid mapping. Jensen LL, et al. Cytogenet Cell Genet, 2001. PMID 11474204
  3. Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2. Hadano S, et al. Genomics, 2001 Jan 15. PMID 11161814
  4. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Calvo SE, et al. Sci Transl Med, 2012 Jan 25. PMID 22277967, Free PMC Article
  5. 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

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Recessive mutations in NDUFB3 cause complex I deficiency
    Title: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
  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

Associated conditions

Description Tests
Mitochondrial complex 1 deficiency, nuclear type 25
MedGen: C4748806 OMIM: 618246 GeneReviews: Not available
Compare labs

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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Homology

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 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 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 beta subcomplex subunit 3
Names
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NADH-ubiquinone oxidoreductase B12 subunit
complex I-B12
NP_001244031.1
NP_002482.1
XP_011509532.1
XP_047300444.1
XP_054198228.1
XP_054198229.1

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_032156.1 RefSeqGene

    Range
    5263..19012
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257102.2 → NP_001244031.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3

    See identical proteins and their annotated locations for NP_001244031.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC018183, BM848639, BU188560
    Consensus CDS
    CCDS2336.1
    UniProtKB/Swiss-Prot
    O43676, Q6IB80
    Related
    ENSP00000410600.1, ENST00000433898.5
    Conserved Domains (1) summary
    pfam08122
    Location:42 → 97
    NDUF_B12; NADH-ubiquinone oxidoreductase B12 subunit family

  2. NM_002491.3 → NP_002482.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3

    See identical proteins and their annotated locations for NP_002482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an exon in the 5' UTR, compared to variant 2. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC018183
    Consensus CDS
    CCDS2336.1
    UniProtKB/Swiss-Prot
    O43676, Q6IB80
    Related
    ENSP00000237889.4, ENST00000237889.9
    Conserved Domains (1) summary
    pfam08122
    Location:42 → 97
    NDUF_B12; NADH-ubiquinone oxidoreductase B12 subunit family

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    201072001..201085750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444488.1 → XP_047300444.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 isoform X1

    UniProtKB/Swiss-Prot
    O43676, Q6IB80
    Related
    ENSP00000507925.1, ENST00000682325.1

  2. XM_011511230.4 → XP_011509532.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 isoform X1

    See identical proteins and their annotated locations for XP_011509532.1

    UniProtKB/Swiss-Prot
    O43676, Q6IB80
    Related
    ENSP00000407336.1, ENST00000454214.1
    Conserved Domains (1) summary
    pfam08122
    Location:42 → 97
    NDUF_B12; NADH-ubiquinone oxidoreductase B12 subunit family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    201555443..201569193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342254.1 → XP_054198229.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 isoform X1

    UniProtKB/Swiss-Prot
    O43676, Q6IB80

  2. XM_054342253.1 → XP_054198228.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 isoform X1

    UniProtKB/Swiss-Prot
    O43676, Q6IB80
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43676.3 GenPept UniProtKB/Swiss-Prot:O43676

Gene LinkOut

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