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

Gene ID: 54539, updated on 9-Feb-2020

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
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

Genomic context

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See NDUFB11 in Genome Data Viewer
Location:
Xp11.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (47142216..47145210, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47001615..47004609, 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 inositol 1,3,4-triphosphate 5/6 kinase pseudogene 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. 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
  2. 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
  3. 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
  4. Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. van Rahden VA, et al. Am J Hum Genet, 2015 Apr 2. PMID 25772934, Free PMC Article
  5. The mechanism of alternative splicing of the X-linked NDUFB11 gene of the respiratory chain complex I, impact of rotenone treatment in neuroblastoma cells. Panelli D, et al. Biochim Biophys Acta, 2013 Feb. PMID 23246602

See all (33) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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)

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

  • FLJ20494, MGC111182

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
mitochondrial electron transport, NADH to ubiquinone TAS
Traceable Author Statement
more info
  
mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
mitochondrial 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
    5001..7995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135998.2 → 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)
    AF044213, AY359056
    Consensus CDS
    CCDS48100.1
    UniProtKB/Swiss-Prot
    Q9NX14
    Related
    ENSP00000367042.3, ENST00000377811.3
    Conserved Domains (1) summary
    pfam10183
    Location:22 → 141
    ESSS; ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)

  2. NM_019056.6 → 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, AY359056
    Consensus CDS
    CCDS14273.1
    UniProtKB/Swiss-Prot
    Q9NX14
    Related
    ENSP00000276062.8, ENST00000276062.8
    Conserved Domains (1) summary
    pfam10183
    Location:30 → 143
    ESSS; ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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..47145210 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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