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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
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Genomic context

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See NDUFB7 in Genome Data Viewer
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

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