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

    Gene ID: 4711, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NDUFB5 in Genome Data Viewer
    Location:
    3q26.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (179604794..179627647)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (182408634..182431486)
    RS_2024_09 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

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30597, MGC12314, MGC111204, DKFZp686N02262

    General protein information

    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)

    NEW Try the new Transcript table

    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_001199957.2NP_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:1136
      NDUF_B5; NADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit
    2. NM_001199958.2NP_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:1114
      NDUF_B5; NADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit
    3. NM_002492.4NP_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:1188
      NDUF_B5; NADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)