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

    Gene ID: 54539, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:20372
    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
    mouse all
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    Genomic context

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    See NDUFB11 in Genome Data Viewer
    Location:
    Xp11.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (47142216..47145491, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (46551936..46555216, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 29580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29581 Neighboring gene RNA, U12 small nuclear 2, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29582 Neighboring gene RNA binding motif protein 10 Neighboring gene ITPK1 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:47037923-47039122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:47050393-47050933 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:47053068-47053256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20798 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:47057593-47058792 Neighboring gene ubiquitin like modifier activating enzyme 1 Neighboring gene uncharacterized LOC105373194 Neighboring gene inactivation escape 1

    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. A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. Lichtenstein DA, et al. Blood, 2016 Oct 13. PMID 27488349, Free PMC Article
    2. A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. Amate-García G, et al. Int J Mol Sci, 2023 Jan 16. PMID 36675256, Free PMC Article
    3. Cloning and tissue expressional characterization of a full-length cDNA encoding human neuronal protein P17.3. Cui Y, et al. Biochem Genet, 1999 Jun. PMID 10544803
    4. Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11. Reinson K, et al. Eur J Med Genet, 2019 Nov. PMID 30423443
    5. A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Torraco A, et al. Clin Genet, 2017 Mar. PMID 27102574

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress.
      Title: NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress.
    2. A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
      Title: A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
    3. Our findings together with a review of the thirteen previously described patients demonstrate a wide spectrum of clinical features associated with NDUFB11-related complex I deficiency. However, histiocytoid cardiomyopathy and/or congenital sideroblastic anemia could be indicative for mutation in the NDUFB11 gene, while the clinical manifestation of the same mutation can be highly variable
      Title: Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.
    4. recurring mutation, c.276_278del, p.F93del, in NDUFB11, a mitochondrial respiratory complex I-associated protein encoded on the X chromosome, in 5 males with a variably syndromic, normocytic congenital sideroblastic anemia.
      Title: A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
    5. This is the third report that describes a mutation in NDUFB11, but all are associated with a different phenotype. Our results further expand the molecular spectrum and associated clinical phenotype of NDUFB11 defects.
      Title: A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
    6. The novel NDUFB11 mutation may cause a complex 1 deficiency in synergy with additional unknown mtDNA variants.
      Title: Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy.
    7. Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
      Title: Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
    8. the post-transcriptional regulation of the Ndufb11 gene can be involved in the programmed cell death process
      Title: The mechanism of alternative splicing of the X-linked NDUFB11 gene of the respiratory chain complex I, impact of rotenone treatment in neuroblastoma cells.
    9. NDUFB11 did not seem to influence risk and age at onset of visual loss in a total of 65 individuals from 35 Italian Leber hereditary optic neuropathy patients.
      Title: The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.
    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)

    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

    • 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 aerobic respiration 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 
    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 mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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)

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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.

    Genomic

    1. NG_052579.1 RefSeqGene

      Range
      5509..7995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135998.3 → NP_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
      Q5JRR3, Q5JRR4, Q6IAB6, Q8WZ96, Q9BXX9, Q9NX14
      UniProtKB/TrEMBL
      Q7Z4X2
      Related
      ENSP00000367042.3, ENST00000377811.4
      Conserved Domains (1) summary
      pfam10183
      Location:22 → 141
      ESSS; ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)

    2. NM_019056.7 → NP_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/TrEMBL
      Q7Z4X2
      Related
      ENSP00000509334.1, ENST00000687244.1
      Conserved Domains (1) summary
      pfam10183
      Location:30 → 143
      ESSS; ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)

    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_000023.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      46551936..46555216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NX14.1 GenPept UniProtKB/Swiss-Prot:Q9NX14

    Gene LinkOut

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

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