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

Gene ID: 126328, updated on 5-Jan-2020

Summary

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
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

Genomic context

See NDUFA11 in Genome Data Viewer
Location:
19p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (5891276..5903790, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (5891287..5904024, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10376 Neighboring gene fucosyltransferase 5 Neighboring gene Sharpr-MPRA regulatory region 9916 Neighboring gene vimentin type intermediate filament associated coiled-coil protein Neighboring gene RAN binding protein 3 Neighboring gene calcyphosine

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: FUT5

Homology

Clone Names

  • FLJ76501

Gene Ontology Provided by GOA

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 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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)

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..17738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193375.2NP_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:62116
    Tim17; Tim17/Tim22/Tim23/Pmp24 family
  2. NM_175614.5NP_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
    Q86Y39
    Related
    ENSP00000311740.3, ENST00000308961.4
    Conserved Domains (1) summary
    pfam02466
    Location:62115
    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: 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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    5891276..5903790 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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