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Aliases for NDUFAF4 Gene

Aliases for NDUFAF4 Gene

  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 4 2 3
  • C6orf66 3 4 6
  • HRPAP20 3 4 6
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 4 2 3
  • Hormone-Regulated Proliferation-Associated Protein Of 20 KDa 3 4
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 4 3
  • Hormone-Regulated Proliferation-Associated Protein, 20 KDa 3
  • Chromosome 6 Open Reading Frame 66 2
  • BA22L21.1 3
  • HSPC125 3
  • My013 3

External Ids for NDUFAF4 Gene

Previous HGNC Symbols for NDUFAF4 Gene

  • C6orf66

Previous GeneCards Identifiers for NDUFAF4 Gene

  • GC06M097446
  • GC06M097337
  • GC06M094771

Summaries for NDUFAF4 Gene

Entrez Gene Summary for NDUFAF4 Gene

  • 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]

GeneCards Summary for NDUFAF4 Gene

NDUFAF4 (NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 4) is a Protein Coding gene. Diseases associated with NDUFAF4 include mitochondrial complex i deficiency. GO annotations related to this gene include calmodulin binding.

UniProtKB/Swiss-Prot for NDUFAF4 Gene

  • Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFAF4 Gene

Genomics for NDUFAF4 Gene

Regulatory Elements for NDUFAF4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NDUFAF4 Gene

Start:
96,889,311 bp from pter
End:
96,897,891 bp from pter
Size:
8,581 bases
Orientation:
Minus strand

Genomic View for NDUFAF4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFAF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAF4 Gene

Proteins for NDUFAF4 Gene

  • Protein details for NDUFAF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P032-NDUF4_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
    Protein Accession:
    Q9P032
    Secondary Accessions:
    • B2R4J5

    Protein attributes for NDUFAF4 Gene

    Size:
    175 amino acids
    Molecular mass:
    20266 Da
    Quaternary structure:
    • Binds calmodulin. Interacts with NDUFAF3.

neXtProt entry for NDUFAF4 Gene

Proteomics data for NDUFAF4 Gene at MOPED

Post-translational modifications for NDUFAF4 Gene

  • Phosphorylated on serine. Prolactin stimulate serine phosphorylation (By similarity).
  • Ubiquitination at Lys51, Lys60, Lys66, Lys91, Lys97, and Lys107
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFAF4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for NDUFAF4 Gene

Domains for NDUFAF4 Gene

Gene Families for NDUFAF4 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for NDUFAF4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFAF4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P032

UniProtKB/Swiss-Prot:

NDUF4_HUMAN :
  • Q9P032
Family:
  • Belongs to the NDUFAF4 family.
genes like me logo Genes that share domains with NDUFAF4: view

Function for NDUFAF4 Gene

Molecular function for NDUFAF4 Gene

UniProtKB/Swiss-Prot Function: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.
UniProtKB/Swiss-Prot Induction: Expression is low in quiescent cells and is induced in exponentially proliferating cultures. Expression is also induced when prolactin is added to stationary cells. Induced by dietary differentiating agents such as butyrate and retinoic acid.

Gene Ontology (GO) - Molecular Function for NDUFAF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19463981
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with NDUFAF4: view

Animal Model Products

CRISPR Products

miRNA for NDUFAF4 Gene

miRTarBase miRNAs that target NDUFAF4

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFAF4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for NDUFAF4 Gene

Localization for NDUFAF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFAF4 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFAF4 Gene COMPARTMENTS Subcellular localization image for NDUFAF4 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for NDUFAF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0031966 mitochondrial membrane IDA 19463981
genes like me logo Genes that share ontologies with NDUFAF4: view

Pathways for NDUFAF4 Gene

SuperPathways for NDUFAF4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NDUFAF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010257 NADH dehydrogenase complex assembly --
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 18179882
genes like me logo Genes that share ontologies with NDUFAF4: view

No data available for Pathways by source for NDUFAF4 Gene

Compounds for NDUFAF4 Gene

(1) HMDB Compounds for NDUFAF4 Gene

Compound Synonyms Cas Number PubMed IDs
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
genes like me logo Genes that share compounds with NDUFAF4: view

Transcripts for NDUFAF4 Gene

mRNA/cDNA for NDUFAF4 Gene

Unigene Clusters for NDUFAF4 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFAF4

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NDUFAF4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: - -
SP5: -

Relevant External Links for NDUFAF4 Gene

GeneLoc Exon Structure for
NDUFAF4
ECgene alternative splicing isoforms for
NDUFAF4

Expression for NDUFAF4 Gene

mRNA expression in normal human tissues for NDUFAF4 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for NDUFAF4 Gene

SOURCE GeneReport for Unigene cluster for NDUFAF4 Gene Hs.512144

genes like me logo Genes that share expressions with NDUFAF4: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFAF4 Gene

Orthologs for NDUFAF4 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFAF4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF4 35
  • 99.05 (n)
  • 99.43 (a)
NDUFAF4 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFAF4 35
  • 83.81 (n)
  • 78.86 (a)
NDUFAF4 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFAF4 35
  • 81.9 (n)
  • 78.29 (a)
NDUFAF4 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufaf4 35
  • 79.58 (n)
  • 72.83 (a)
Ndufaf4 16
Ndufaf4 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFAF4 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufaf4 35
  • 78.74 (n)
  • 72.41 (a)
chicken
(Gallus gallus)
Aves NDUFAF4 35
  • 62.3 (n)
  • 53.57 (a)
NDUFAF4 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFAF4 36
  • 47 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33349 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf4 35
  • 60.08 (n)
  • 55.69 (a)
zebrafish
(Danio rerio)
Actinopterygii ndufaf4 35
  • 55.29 (n)
  • 47.06 (a)
ndufaf4 36
  • 41 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007625 35
  • 43.95 (n)
  • 35.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11722 35
  • 45.55 (n)
  • 36.02 (a)
CG11722 36
  • 30 (a)
OneToOne
Species with no ortholog for NDUFAF4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFAF4 Gene

ENSEMBL:
Gene Tree for NDUFAF4 (if available)
TreeFam:
Gene Tree for NDUFAF4 (if available)

Paralogs for NDUFAF4 Gene

Pseudogenes.org Pseudogenes for NDUFAF4 Gene

genes like me logo Genes that share paralogs with NDUFAF4: view

No data available for Paralogs for NDUFAF4 Gene

Variants for NDUFAF4 Gene

Sequence variations from dbSNP and Humsavar for NDUFAF4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs6684 Likely benign 96,891,202(-) ACCAG(C/T)TAGAA synonymous-codon, reference
rs11402 Likely benign 96,891,212(-) ATGCA(A/G)GAATA synonymous-codon, reference
rs985481 -- 96,898,025(-) GGCCC(C/T)CGTGG upstream-variant-2KB
rs986066 -- 96,894,613(-) GTACT(A/G)AACCC intron-variant
rs1028878 -- 96,898,701(-) TGTTT(G/T)TTTTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NDUFAF4 Gene

Variant ID Type Subtype PubMed ID
nsv886425 CNV Loss 21882294

Relevant External Links for NDUFAF4 Gene

HapMap Linkage Disequilibrium report
NDUFAF4
Human Gene Mutation Database (HGMD)
NDUFAF4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFAF4 Gene

Disorders for NDUFAF4 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for NDUFAF4 Gene including...

Search for NDUFAF4 Gene in MalaCards »

(1) OMIM Diseases for NDUFAF4 Gene (611776)

UniProtKB/Swiss-Prot

NDUF4_HUMAN
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269 PubMed:18179882}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for NDUFAF4 Gene

Relevant External Links for NDUFAF4

Genetic Association Database (GAD)
NDUFAF4
Human Genome Epidemiology (HuGE) Navigator
NDUFAF4
genes like me logo Genes that share disorders with NDUFAF4: view

Publications for NDUFAF4 Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4
  2. C6ORF66 is an assembly factor of mitochondrial complex I. (PMID: 18179882) Saada A. … Elpeleg O. (Am. J. Hum. Genet. 2008) 2 3 4
  3. Oligonucleotide microarray analysis of estrogen receptor alpha-positive postmenopausal breast carcinomas: identification of HRPAP20 and TIMELESS as outstanding candidate markers to predict the response to tamoxifen. (PMID: 17909269) Tozlu-Kara S. … BiA"che I. (J. Mol. Endocrinol. 2007) 3 23
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  5. Identification of HRPAP20: a novel phosphoprotein that enhances growth and survival in hormone-responsive tumor cells. (PMID: 14871833) Karp C.M. … Buckley A.R. (Cancer Res. 2004) 3 4

Products for NDUFAF4 Gene

Sources for NDUFAF4 Gene

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