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

    Gene ID: 4709, updated on 8-Jul-2021

    Summary

    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
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See NDUFB3 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (201071784..201085750)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201936724..201950473)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 126 member B Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 35 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

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001257102.2NP_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
      UniProtKB/TrEMBL
      A0A024R413
      Related
      ENSP00000410600.1, ENST00000433898.5
      Conserved Domains (1) summary
      pfam08122
      Location:4297
      NDUF_B12; NADH-ubiquinone oxidoreductase B12 subunit family
    2. NM_002491.3NP_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
      UniProtKB/TrEMBL
      A0A024R413
      Related
      ENSP00000237889.4, ENST00000237889.9
      Conserved Domains (1) summary
      pfam08122
      Location:4297
      NDUF_B12; NADH-ubiquinone oxidoreductase B12 subunit family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      201071784..201085750
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511230.3XP_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
      UniProtKB/TrEMBL
      A0A024R413
      Related
      ENSP00000407336.1, ENST00000454214.1
      Conserved Domains (1) summary
      pfam08122
      Location:4297
      NDUF_B12; NADH-ubiquinone oxidoreductase B12 subunit family
    2. XM_017004186.2XP_016859675.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 isoform X1

      UniProtKB/Swiss-Prot
      O43676
      UniProtKB/TrEMBL
      A0A024R413
      Related
      ENSP00000507925.1, ENST00000682325.1
      Conserved Domains (1) summary
      pfam08122
      Location:4297
      NDUF_B12; NADH-ubiquinone oxidoreductase B12 subunit family
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