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

    Gene ID: 4709, updated on 27-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
    mouse all
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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
    • 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

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