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

Gene ID: 4711, updated on 11-Apr-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
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Genomic context

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See NDUFB5 in Genome Data Viewer
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

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