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    NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 [ Homo sapiens (human) ]

    Gene ID: 54539, updated on 8-Jul-2021

    Summary

    Official Symbol
    NDUFB11provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit B11provided by HGNC
    Primary source
    HGNC:HGNC:20372
    See related
    Ensembl:ENSG00000147123 MIM:300403
    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
    ESSS; Np15; P17.3; NP17.3; CI-ESSS; MC1DN30
    Summary
    The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in adrenal (RPKM 29.1), heart (RPKM 25.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NDUFB11 in Genome Data Viewer
    Location:
    Xp11.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (47142216..47145491, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47001615..47004890, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373193 Neighboring gene uncharacterized LOC107985720 Neighboring gene RNA, U12 small nuclear 2, pseudogene Neighboring gene RNA binding motif protein 10 Neighboring gene ITPK1 pseudogene 1 Neighboring gene ubiquitin like modifier activating enzyme 1 Neighboring gene uncharacterized LOC105373194 Neighboring gene inactivation escape 1

    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

    Homology

    Clone Names

    • FLJ20494, MGC111182

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    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
    PubMed 
    part_of mitochondrial respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
    NADH-ubiquinone oxidoreductase ESSS subunit
    complex I NP17.3 subunit
    complex I-ESSS
    neuronal protein 17.3

    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.

    Genomic

    1. NG_052579.1 RefSeqGene

      Range
      5001..7995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135998.3NP_001129470.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001129470.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in_frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) has a shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AY359056
      Consensus CDS
      CCDS48100.1
      UniProtKB/Swiss-Prot
      Q9NX14
      Related
      ENSP00000367042.3, ENST00000377811.4
      Conserved Domains (1) summary
      pfam10183
      Location:22141
      ESSS; ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)
    2. NM_019056.7NP_061929.2  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_061929.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF044213, AF251063, AL513366, AY359056
      Consensus CDS
      CCDS14273.1
      UniProtKB/Swiss-Prot
      Q9NX14
      Related
      ENSP00000276062.8, ENST00000276062.8
      Conserved Domains (1) summary
      pfam10183
      Location:30143
      ESSS; ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      47142216..47145491 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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