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    NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 [ Homo sapiens (human) ]

    Gene ID: 4711, updated on 5-May-2024

    Summary

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    Official Symbol
    NDUFB5provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit B5provided by HGNC
    Primary source
    HGNC:HGNC:7700
    See related
    Ensembl:ENSG00000136521 MIM:603841; AllianceGenome:HGNC:7700
    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
    SGDH; CISGDH
    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 locates 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. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
    Expression
    Ubiquitous expression in heart (RPKM 79.6), fat (RPKM 69.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q26.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (179604794..179627647)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (182408634..182431486)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (179322582..179345435)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909462 Neighboring gene actin like 6A Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:179321716-179322582 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:179322583-179323449 Neighboring gene mitochondrial ribosomal protein L47 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14922 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:179370658-179371301 Neighboring gene H3 histone pseudogene 13 Neighboring gene ubiquitin specific peptidase 13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:179446047-179446626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:179446627-179447205

    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. Potentially Critical Roles of NDUFB5, TIMMDC1, and VDAC3 in the Progression of Septic Cardiomyopathy Through Integrated Bioinformatics Analysis. Kang K, et al. DNA Cell Biol, 2020 Jan. PMID 31794266
    2. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. Ton C, et al. Biochem Biophys Res Commun, 1997 Dec 18. PMID 9425316
    3. 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
    4. Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis. Martins-de-Souza D, et al. J Neural Transm (Vienna), 2009 Mar. PMID 19034380
    5. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Stroud DA, et al. Nature, 2016 Oct 6. PMID 27626371

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data suggest that the hub genes NADH:ubiquinone oxidoreductase subunit B5 (NDUFB5), translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), and voltage-dependent anion channel 3 (VDAC3) might serve as potential biomarkers for diagnosis and/or therapeutic targets for precise treatment of septic cardiomyopathy (SC) .
      Title: Potentially Critical Roles of NDUFB5, TIMMDC1, and VDAC3 in the Progression of Septic Cardiomyopathy Through Integrated Bioinformatics Analysis.
    2. This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia.
      Title: Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
    3. 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

    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

    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

    • FLJ30597, MGC12314, MGC111204, DKFZp686N02262

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
    		  
    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 
    part_of mitochondrial respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa
    NADH-ubiquinone oxidoreductase SGDH subunit
    complex I SGDH subunit
    complex I-SGDH
    NP_001186886.1
    NP_001186887.1
    NP_002483.1

    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_001199957.2 → NP_001186886.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001186886.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC090425, BC009796, BC093071, CD364869, DA112751
      Consensus CDS
      CCDS56297.1
      UniProtKB/Swiss-Prot
      O43674
      Related
      ENSP00000419656.1, ENST00000493866.5
      Conserved Domains (1) summary
      pfam09781
      Location:1 → 136
      NDUF_B5; NADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit

    2. NM_001199958.2 → NP_001186887.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial isoform 3 precursor

      See identical proteins and their annotated locations for NP_001186887.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC090425, AW955118, BC009796, CD364869, DA112751
      Consensus CDS
      CCDS75054.1
      UniProtKB/TrEMBL
      A0A087WYD0
      Related
      ENSP00000481703.1, ENST00000611971.4
      Conserved Domains (1) summary
      pfam09781
      Location:1 → 114
      NDUF_B5; NADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit

    3. NM_002492.4 → NP_002483.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_002483.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC090425, BC009796, CD364869, DA112751
      Consensus CDS
      CCDS3234.1
      UniProtKB/Swiss-Prot
      O43674, Q561V6
      UniProtKB/TrEMBL
      B2R9L0
      Related
      ENSP00000259037.3, ENST00000259037.8
      Conserved Domains (1) summary
      pfam09781
      Location:1 → 188
      NDUF_B5; NADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      179604794..179627647
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      182408634..182431486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43674.1 GenPept UniProtKB/Swiss-Prot:O43674

    Gene LinkOut

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

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