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NDUFA4 NDUFA4, mitochondrial complex associated [ Homo sapiens (human) ]

Gene ID: 4697, updated on 4-Nov-2018

Summary

Official Symbol
NDUFA4provided by HGNC
Official Full Name
NDUFA4, mitochondrial complex associatedprovided by HGNC
Primary source
HGNC:HGNC:7687
See related
Ensembl:ENSG00000189043 MIM:603833; Vega:OTTHUMG00000023880
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
MLRQ; CI-9k; COXFA4; CI-MLRQ
Summary
The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in heart (RPKM 150.5), brain (RPKM 62.0) and 24 other tissues See more
Orthologs

Genomic context

See NDUFA4 in Genome Data Viewer
Location:
7p21.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (10931953..10940186, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (10971580..10979813, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC79150 Neighboring gene uncharacterized LOC107986766 Neighboring gene VISTA enhancer hs793 Neighboring gene uncharacterized LOC100131472 Neighboring gene uncharacterized LOC107986767 Neighboring gene ribosomal protein L23a pseudogene 52 Neighboring gene PHD finger protein 14

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ27440, MGC104422, MGC126843, MGC126845

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
contributes_to cytochrome-c oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to cytochrome-c oxidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
mitochondrial electron transport, NADH to ubiquinone NAS
Non-traceable Author Statement
more info
PubMed 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
NOT mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial respiratory chain complex IV IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex IV IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cytochrome c oxidase subunit NDUFA4
Names
Complex I 9kDa subunit
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4
NADH-ubiquinone oxidoreductase MLRQ subunit
complex I-MLRQ
cytochrome c oxidase subunit FA4
NP_002480.1

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_050627.1 RefSeqGene

    Range
    5001..13234
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002489.3NP_002480.1  cytochrome c oxidase subunit NDUFA4

    See identical proteins and their annotated locations for NP_002480.1

    Status: REVIEWED

    Source sequence(s)
    AC007029, BG623521
    Consensus CDS
    CCDS5357.1
    UniProtKB/Swiss-Prot
    O00483
    UniProtKB/TrEMBL
    A0A024R9Z0
    Related
    ENSP00000339720.5, OTTHUMP00000115954, ENST00000339600.5, OTTHUMT00000207507
    Conserved Domains (1) summary
    pfam06522
    Location:1178
    B12D; NADH-ubiquinone reductase complex 1 MLRQ subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    10931953..10940186 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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