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NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 [ Homo sapiens (human) ]

Gene ID: 29078, updated on 5-Aug-2018

Summary

Official Symbol
NDUFAF4provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase complex assembly factor 4provided by HGNC
Primary source
HGNC:HGNC:21034
See related
Ensembl:ENSG00000123545 MIM:611776; Vega:OTTHUMG00000015246
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
My013; C6orf66; HRPAP20; HSPC125; bA22L21.1
Summary
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in heart (RPKM 11.9), brain (RPKM 11.8) and 25 other tissues See more
Orthologs

Genomic context

See NDUFAF4 in Genome Data Viewer
Location:
6q16.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (96889311..96897891, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (97337187..97345767, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 6 Neighboring gene G protein-coupled receptor 63 Neighboring gene kelch like family member 32 Neighboring gene RNA, 7SL, cytoplasmic 509, pseudogene Neighboring gene VISTA enhancer hs676

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?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
Names
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
hormone-regulated proliferation-associated protein of 20 kDa
hormone-regulated proliferation-associated protein, 20 kDa

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_013379.1 RefSeqGene

    Range
    5001..13581
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014165.3NP_054884.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

    See identical proteins and their annotated locations for NP_054884.1

    Status: REVIEWED

    Source sequence(s)
    AL159985, BC018802, DB253189
    Consensus CDS
    CCDS5037.1
    UniProtKB/Swiss-Prot
    Q9P032
    Related
    ENSP00000358272.4, OTTHUMP00000016882, ENST00000316149.7, OTTHUMT00000041567
    Conserved Domains (1) summary
    pfam06784
    Location:1167
    UPF0240; Uncharacterized protein family (UPF0240)

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_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    96889311..96897891 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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