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

    Gene ID: 4710, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See NDUFB4 in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (120596336..120602507)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (120315128..120321258)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986121 Neighboring gene ribosomal protein L34 pseudogene 9 Neighboring gene homogentisate 1,2-dioxygenase Neighboring gene RAB, member of RAS oncogene family like 3 Neighboring gene MT-CO1 pseudogene 29

    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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC5105

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrial respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    PubMed 
    mitochondrion HDA PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    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)

    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_001168331.2NP_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:5117
      NDUF_B4; NADH-ubiquinone oxidoreductase B15 subunit (NDUFB4)
    2. NM_004547.6NP_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
      O95168
      Related
      ENSP00000184266.2, ENST00000184266.3
      Conserved Domains (1) summary
      pfam07225
      Location:5128
      NDUF_B4; NADH-ubiquinone oxidoreductase B15 subunit (NDUFB4)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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