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

Gene ID: 126328, updated on 5-Mar-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
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Genomic context

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Location:
19p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (5891229..5903790, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (5878657..5891220, complement)
105.20220307 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 (24) 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
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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

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
  
part_of mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial respiratory chain complex I IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  

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, ENST00000418389.6
    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_2023_10

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

Gene LinkOut

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