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

Gene ID: 126328, updated on 26-May-2016
Official Symbol
NDUFA11provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit A11provided by HGNC
Primary source
HGNC:HGNC:20371
See related
Ensembl:ENSG00000174886 HPRD:14818; MIM:612638; Vega:OTTHUMG00000180617
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; 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]
Orthologs
Location:
19p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (5891276..5904013, 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 uncharacterized LOC101928844 Neighboring gene fucosyltransferase 3 (Lewis blood group) Neighboring gene fucosyltransferase 5 Neighboring gene vimentin-type intermediate filament associated coiled-coil protein Neighboring gene RAN binding protein 3 Neighboring gene calcyphosine

Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: FUT5

Homology

Clone Names

  • FLJ76501

Gene Ontology Provided by GOA

Process Evidence Code Pubs
mitochondrial electron transport, NADH to ubiquinone TAS
Traceable Author Statement
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
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

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
    5001..17738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193375.1NP_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, OTTHUMP00000264785, ENST00000418389, OTTHUMT00000452215
    Conserved Domains (1) summary
    pfam02466
    Location:61116
    Tim17; Tim17/Tim22/Tim23/Pmp24 family
  2. NM_175614.4NP_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, BP432135
    Consensus CDS
    CCDS12155.1
    UniProtKB/Swiss-Prot
    Q86Y39
    Related
    ENSP00000311740, OTTHUMP00000264787, ENST00000308961, OTTHUMT00000452218
    Conserved Domains (1) summary
    pfam02466
    Location:61129
    Tim17; Tim17/Tim22/Tim23/Pmp24 family

RNA

  1. NR_034166.2 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, BP432135

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    5891276..5904013 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    5891532..5904277 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)