NDUFA4 Gene
protein-coding GIFtS: 55
GCID: GC07M010938
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NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD,...)
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Aliases
for NDUFA4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 4, 9kDa1 2 | | NADH-Ubiquinone Oxidoreductase MLRQ Subunit2 3 | | CI-9k1 2 | | NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 4 (9kD, MLRQ)1 | | MLRQ1 2 | | Complex I 9kDa Subunit2 | | Complex I-MLRQ2 3 | | NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 42 | | CI-MLRQ2 3 | | |
Export aliases for NDUFA4 gene to outside databasesPrevious GC identifers: GC07M010617 GC07M010717 GC07M010746 |
Summaries
for NDUFA4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for NDUFA4:
The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrialrespiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity andoxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptorfor the enzyme is believed to be ubiquinone. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: NDUA4_HUMAN, O00483Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that isbelieved to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to therespiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone
|
Genomic Views
for NDUFA4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007819.17 NT_079592.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NDUFA4 gene promoter:
GR COUP-TF1 COUP HNF-4alpha2 CUTL1 LCR-F1 HNF-4alpha1 COUP-TF FOXJ2 (long isoform) FOXJ2
Other transcription factors
Search SABiosciences Chromatin IP Primers for NDUFA4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFA4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7p21.3 Ensembl cytogenetic band: 7p21.3 HGNC cytogenetic band: 7p21.3NDUFA4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M010938: view genomic region
(about GC identifiers)
Start:
|
10,971,578 bp from pter |
End:
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10,979,883 bp from pter |
Size:
|
8,306 bases |
Orientation:
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minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 11,026,359-11,033,358 |
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Proteins
for NDUFA4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: NDUA4_HUMAN, O00483 (See
protein sequence)Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4 Size: 81 amino acids; 9370 Da
Subunit: Mammalian complex I is composed of 45 different subunits
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
Secondary accessions: A4D109 Q6FHN5Explore the universe of human proteins at neXtProt for NDUFA4: NX_O00483
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O00483
NDUFA4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_002480.1
ENSEMBL proteins: ENSP00000339720 Reactome Protein details: O00483
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
NDUFA4 for ontologies About GeneDecksing
NDUFA4 Antibody Products:
Assay Products for NDUFA4: |
Protein
Domains /
Families
for NDUFA4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NDUFA4 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry O00483ProtoNet protein and cluster: O00483 UniProtKB/Swiss-Prot: NDUA4_HUMAN, O00483Similarity: Belongs to the complex I NDUFA4 subunit family |
Function
for NDUFA4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: NDUA4_HUMAN, O00483Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that isbelieved to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to therespiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFA4
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA4 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004129 | contributes to cytochrome-c oxidase activity |
IMP | -- | | GO:0008137 | NADH dehydrogenase (ubiquinone) activity |
NAS | 9878551 |
NDUFA4 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for NDUFA4:
|
Pathways & Interactions
for NDUFA4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 2 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  BioSystems Pathways for NDUFA4
4 
Reactome Pathways for NDUFA4
5 
Kegg Pathways (Kegg details for NDUFA4):
NDUFA4 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFA4
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/119 Interacting proteins for NDUFA4 (O004832, 3 ENSP000003397204) via UniProtKB, MINT, STRING, and/or I2D (see all 119)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006120 | mitochondrial electron transport, NADH to ubiquinone |
NAS | 9878551 | | GO:0022904 | respiratory electron transport chain |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
NDUFA4 for ontologies About GeneDecksing
|
Drugs & Compounds
for NDUFA4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for NDUFA4
8 HMDB Compounds for NDUFA4 About this table
1 DrugBank Compound for NDUFA4 About this table
Search CenterWatch for drugs/clinical trials and news about NDUFA4 / NDUA4
|
Transcripts
for NDUFA4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for NDUFA4 gene: NM_002489.3 Unigene Cluster for NDUFA4: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa Hs.50098 [show with all ESTs]Unigene Representative Sequence: BX5382776 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000339600(uc003srx.2) ENST00000482299 ENST00000470761 ENST00000486007
ENST00000463308 ENST00000492822
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFA4 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFA4
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: NDUFA4 (NM_002489) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NDUFA4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFA4 |
Additional cDNA sequence: AF201077.1 AK024837.1 AK130950.1 BC101794.1 BC101796.1 BC105295.1 BX538277.1 CR407618.1 CR541716.1 U94586.1 24/38 DOTS entries (see all 38): DT.75193342 DT.102833469 DT.92020887 DT.95268814 DT.91671299 DT.95268816 DT.121098743 DT.101962617 DT.121098764 DT.121098741 DT.91792998 DT.100032236 DT.101985561 DT.91681103 DT.121098751 DT.100045412 DT.100828319 DT.100828321 DT.121098734 DT.91662534 DT.91870631 DT.95236116 DT.97864725 DT.100828315 24/953 AceView cDNA sequences (see all 953): F29314 CD679474 F27138 BM852347 AI185661 CD678042 AV712489 AA953284 AI421162 AW269706 AA044568 AA156266 AA314222 F00382 F19520 CB114108 BM782400 BM743513 W70216 BM855842 N71899 BP374914 BX098588 BF970605
GeneLoc Exon Structure
|
Expression
for NDUFA4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| NDUFA4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGGAGATCT
About this image
See NDUFA4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NDUFA4
SOURCE GeneReport for Unigene cluster: Hs.50098
SABiosciences Expression via Pathway-Focused PCR Array including NDUFA4: | Mitochondrial Energy Metabolism in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NDUFA4
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA4 |
Orthologs
for NDUFA4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for NDUFA4 gene from 4/14 species (see all 14) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
NDUFA41 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more |
76.13(n)
76.54(a) |
|
772135 XM_001234600.2 XP_001234601.2 |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.238552 |
Xenopus laevis transcribed sequence with weak similarity more |
71.85(n) |
|
CB984165.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
ndufa41 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more |
64.61(n)
74.07(a) |
|
406298 NM_213025.1 NP_998190.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG322306 |
-- |
49(a) |
1 → many |
3L(23332426-23339038) |
ENSEMBL Gene Tree for NDUFA4 (if available)
TreeFam Gene Tree for NDUFA4 (if available) |
Paralogs
for NDUFA4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for NDUFA4 gene
- NDUFA4L22
2 SIMAP similar genes for NDUFA4 using alignment to 1 protein entry: NDUA4_HUMAN:NDUFA4L2 NMES1
NDUFA4 for paralogs About GeneDecksing
5/26 Pseudogenes.org Pseudogenes for NDUFA4 (see all 26)
PGOHUM00000238366 PGOHUM00000242291 PGOHUM00000239719 PGOHUM00000247895 PGOHUM00000261851
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Genomic Variants
for NDUFA4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for NDUFA4 (10971578 - 10979883 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NDUFA4
1 CNV: 8549
Human Gene Mutation Database (HGMD): NDUFA4
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for NDUFA4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NDUFA4 for disorders About GeneDecksing
OMIM gene information: 603833
OMIM disorders: --
3  diseases for NDUFA4: About MalaCardscerebellar disease huntington's disease parkinson's disease
1 disease from the University of Copenhagen DISEASES database for NDUFA4:Dandy-Walker syndrome Human Genome Epidemiology (HuGE) Navigator: NDUFA4 (2 documents)
Export disorders for NDUFA4 gene to outside databases
|
Publications
for NDUFA4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for NDUFA4 gene, integrated from 9 sources (see all 19):
(articles sorted by number of sources associating them with NDUFA4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning of the human cDNA sequence encoding the NADH:ubiquinone oxidoreductase MLRQ subunit. (PubMed id 9352085)1, 2, 3 Kim J.W.... Choe I.S. (1997)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
- The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (2003)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (2011)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
|
External Searches for NDUFA4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NDUFA4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing NDUFA4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NDUFA4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for NDUFA4 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for NDUFA4 gene:
Search GeneIP for patents involving NDUFA4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for NDUFA4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NDUFA4 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFA4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFA4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NDUFA4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDUFA4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDUFA4 |
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