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    NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 [ Homo sapiens (human) ]

    Gene ID: 4713, updated on 11-Apr-2024

    Summary

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    Official Symbol
    NDUFB7provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit B7provided by HGNC
    Primary source
    HGNC:HGNC:7702
    See related
    Ensembl:ENSG00000099795 MIM:603842; AllianceGenome:HGNC:7702
    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
    B18; CI-B18; MC1DN39
    Summary
    The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 29.3), heart (RPKM 25.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (14566078..14572066, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (14692819..14698809, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14676890..14682878, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene GIPC PDZ domain containing family member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14606254-14607180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10255 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14608461-14608960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10257 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:14630503-14631232 Neighboring gene DnaJ heat shock protein family (Hsp40) member B1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14640150-14640734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14172 Neighboring gene microRNA 639 Neighboring gene trans-2,3-enoyl-CoA reductase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14662493-14662992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14666446-14667327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14667328-14668208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14673655-14674462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14676079-14676885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14174 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:14693526-14693669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14175 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14177 Neighboring gene RNA, 7SL, cytoplasmic 337, pseudogene Neighboring gene C-type lectin domain containing 17A Neighboring gene RNA, 7SL, cytoplasmic 842, pseudogene

    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. Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7. Correia SP, et al. Hum Mutat, 2021 Apr. PMID 33502047
    2. cDNA cloning of a novel cell adhesion protein expressed in human squamous carcinoma cells. Wong YC, et al. Biochem Biophys Res Commun, 1990 Jan 30. PMID 2302251
    3. Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients. Triepels R, et al. Hum Genet, 2000 Apr. PMID 10830904
    4. NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I. Szklarczyk R, et al. FEBS Lett, 2011 Mar 9. PMID 21310150
    5. Human mitochondrial complex I in health and disease. Smeitink J, et al. Am J Hum Genet, 1999 Jun. PMID 10330338, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Protein N-myristoylation plays a critical role in the mitochondrial localization of human mitochondrial complex I accessory subunit NDUFB7.
      Title: Protein N-myristoylation plays a critical role in the mitochondrial localization of human mitochondrial complex I accessory subunit NDUFB7.
    2. Intra-molecular disulfide bridges and the inter-membrane space localization of three Cx(9)C-containing subunits in human: NDUFS5, NDUFB7 and NDUFA8, are proposed.
      Title: NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I.
    3. This subunit of complex I is localized in the mitochondrial inter-membrane space. The protein contains intra-molecular disulfide bridges in the twin Cx(9)C motif.
      Title: NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I.
    4. 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 I deficiency, nuclear type 39
    MedGen: C5774258 OMIM: 620135 GeneReviews: Not available
    		not available

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (NDUFB7) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • MGC2480

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    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 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 mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7
    Names
    NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa
    NADH-ubiquinone oxidoreductase B18 subunit
    cell adhesion protein SQM1
    complex I B18 subunit
    complex I-B18
    NP_004137.2
    XP_011526341.1
    XP_054177045.1

    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.

    mRNA and Protein(s)

    1. NM_004146.6 → NP_004137.2  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7

      See identical proteins and their annotated locations for NP_004137.2

      Status: REVIEWED

      Source sequence(s)
      BC002595, CB124371
      Consensus CDS
      CCDS12314.1
      UniProtKB/Swiss-Prot
      P17568, Q6ICN9, Q9UI16
      Related
      ENSP00000215565.1, ENST00000215565.3
      Conserved Domains (1) summary
      pfam05676
      Location:41 → 100
      NDUF_B7; NADH-ubiquinone oxidoreductase B18 subunit (NDUFB7)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      14566078..14572066 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528039.4 → XP_011526341.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 isoform X1

      Conserved Domains (1) summary
      pfam05676
      Location:2 → 64
      NDUF_B7; NADH-ubiquinone oxidoreductase B18 subunit (NDUFB7)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      14692819..14698809 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321070.1 → XP_054177045.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P17568.4 GenPept UniProtKB/Swiss-Prot:P17568

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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