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    NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 [ Homo sapiens (human) ]

    Gene ID: 126328, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NDUFA11provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit A11provided by HGNC
    Primary source
    HGNC:HGNC:20371
    See related
    Ensembl:ENSG00000174886 MIM:612638; AllianceGenome:HGNC:20371
    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
    B14.7; MC1DN14; CI-B14.7
    Summary
    This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
    Expression
    Ubiquitous expression in heart (RPKM 20.7), adrenal (RPKM 14.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFA11 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (5891229..5903790, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (5878657..5891220, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (5891240..5903801, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928844 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:5855126-5855513 Neighboring gene fucosyltransferase 3 (Lewis blood group) Neighboring gene Sharpr-MPRA regulatory region 2774 Neighboring gene Sharpr-MPRA regulatory region 10376 Neighboring gene fucosyltransferase 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5892267-5893073 Neighboring gene MPRA-validated peak3300 silencer Neighboring gene Sharpr-MPRA regulatory region 9916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9938 Neighboring gene vimentin type intermediate filament associated coiled-coil protein Neighboring gene RAN binding protein 3 Neighboring gene calcyphosine

    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. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. Berger I, et al. Ann Neurol, 2008 Mar. PMID 18306244
    2. Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits. Carroll J, et al. J Biol Chem, 2002 Dec 27. PMID 12381726
    3. cDNA microarray analysis of altered gene expression in Ara-C-treated leukemia cells. Takagaki K, et al. Biochem Biophys Res Commun, 2003 Sep 19. PMID 12951057
    4. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Stroud DA, et al. Nature, 2016 Oct 6. PMID 27626371
    5. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. Murray J, et al. J Biol Chem, 2003 Apr 18. PMID 12611891

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Associated conditions

    Description Tests
    Mitochondrial complex 1 deficiency, nuclear type 14
    MedGen: C4748777 OMIM: 618236 GeneReviews: Not available
    		Compare labs

    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

    Potential readthrough

    Included gene: FUT5

    Homology

    Clone Names

    • FLJ76501

    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 alpha subcomplex subunit 11
    Names
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
    NADH-ubiquinone oxidoreductase subunit B14.7
    complex I B14.7 subunit
    NP_001180304.1
    NP_783313.1

    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.

    Genomic

    1. NG_027808.1 RefSeqGene

      Range
      5224..14339
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193375.3 → NP_001180304.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 isoform 2

      See identical proteins and their annotated locations for NP_001180304.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 3' exon, as compared to variant 1. The resulting isoform (2) has a longer and different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC024592, AC104532, BQ955016
      Consensus CDS
      CCDS54203.1
      UniProtKB/Swiss-Prot
      Q86Y39
      Related
      ENSP00000389160.1, ENST00000418389.7
      Conserved Domains (1) summary
      pfam02466
      Location:62 → 116
      Tim17; Tim17/Tim22/Tim23/Pmp24 family

    2. NM_175614.5 → NP_783313.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 isoform 1

      See identical proteins and their annotated locations for NP_783313.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is a dominant transcript and encodes isoform 1.
      Source sequence(s)
      AC104532, AI272174, BC069045
      Consensus CDS
      CCDS12155.1
      UniProtKB/Swiss-Prot
      C9JT23, Q6ZS66, Q86Y39
      Related
      ENSP00000311740.4, ENST00000308961.5
      Conserved Domains (1) summary
      pfam02466
      Location:62 → 115
      Tim17; Tim17/Tim22/Tim23/Pmp24 family

    RNA

    1. NR_034166.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC024592, AC104532, AI272174, AL546175
      Related
      ENST00000593233.1

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      5891229..5903790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791810.1 Reference GRCh38.p14 PATCHES

      Range
      64798..77359 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      5878657..5891220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86Y39.3 GenPept UniProtKB/Swiss-Prot:Q86Y39

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