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The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010] See more...
Aliases for NDUFA9 Gene
Aliases for NDUFA9 Gene
- NADH:Ubiquinone Oxidoreductase Subunit A9 2 3 5
- NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 9, Mitochondrial 3 4
- NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 9, 39kDa 2 3
- Short Chain Dehydrogenase/Reductase Family 22E, Member 1 2 3
- NADH-Ubiquinone Oxidoreductase 39 KDa Subunit 3 4
- Complex I 39kDa Subunit 2 3
- NDUFS2L 3 4
- CI-39kD 3 4
External Ids for NDUFA9 Gene
- HGNC: 7693
- Entrez Gene: 4704
- Ensembl: ENSG00000139180
- OMIM: 603834
- UniProtKB: Q16795
Previous HGNC Symbols for NDUFA9 Gene
- NDUFS2L
Previous GeneCards Identifiers for NDUFA9 Gene
- GC12P004495
- GC12P004650
- GC12P004628
- GC12P004759
- GC12P004714
- GC12P004760
Summaries for NDUFA9 Gene
-
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]
GeneCards Summary for NDUFA9 Gene
NDUFA9 (NADH:Ubiquinone Oxidoreductase Subunit A9) is a Protein Coding gene. Diseases associated with NDUFA9 include Mitochondrial Complex I Deficiency, Nuclear Type 26 and Leigh Syndrome With Leukodystrophy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor.
UniProtKB/Swiss-Prot Summary for NDUFA9 Gene
-
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Required for proper complex I assembly (PubMed:28671271). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
Additional gene information for NDUFA9 Gene
- Monarch Initiative
- Search for NDUFA9 at DataMed
- Search for NDUFA9 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFA9 Gene
Genomics for NDUFA9 Gene
GeneHancer (GH) Regulatory Elements for NDUFA9 Gene
Promoters and enhancers for NDUFA9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NDUFA9 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFA9
- Top Transcription factor binding sites by QIAGEN in the NDUFA9 gene promoter:
-
- AML1a
- Arnt
- FOXO1
- FOXO1a
- GATA-3
- HNF-3beta
- POU6F1 (c2)
- PPAR-gamma1
- PPAR-gamma2
- STAT5A
Genomic Locations for NDUFA9 Gene
Genomic Locations for NDUFA9 Gene
- chr12:4,649,095-4,694,317
- (GRCh38/hg38)
- Size:
- 45,223 bases
- Orientation:
- Plus strand
- chr12:4,758,261-4,798,454
- (GRCh37/hg19)
- Size:
- 40,194 bases
- Orientation:
- Plus strand
Genomic View for NDUFA9 Gene
Genes around NDUFA9 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p13.3 by HGNC
- 12p13.32 by Entrez Gene
- 12p13.32 by Ensembl
NDUFA9 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NDUFA9 Gene
Proteins for NDUFA9 Gene
-
Protein details for NDUFA9 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q16795-NDUA9_HUMAN
- Recommended name:
- NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial
- Protein Accession:
- Q16795
- Q14076
- Q2NKX0
Protein attributes for NDUFA9 Gene
- Size:
- 377 amino acids
- Molecular mass:
- 42510 Da
- Cofactor:
- Name=FAD; Xref=ChEBI:CHEBI:57692;
- Quaternary structure:
-
- Complex I is composed of 45 different subunits. This a component of the hydrophobic protein fraction (PubMed:12611891, PubMed:27626371). Interacts with BLOC1S1 (PubMed:22309213). Interacts with SLC2A4 (By similarity). Interacts with CLOCK (PubMed:28985504).
- SequenceCaution:
-
- Sequence=CAA54099.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for NDUFA9 Gene
Post-translational modifications for NDUFA9 Gene
- Acetylated on lysine residues. BLOC1S1 is required for acetylation (PubMed:22309213). Acetylated by CLOCK in a circadian manner (PubMed:28985504).
-
Ubiquitination at Lys137 and Lys234
- NX_Q16795 (NX_Q16795-1)
- Modification sites at PhosphoSitePlus
Other Protein References for NDUFA9 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ NDUFA9 Antibody
- Creative Diagnostics Anti-NDUFA9 monoclonal antibody, clone 4E8
- Novus Biologicals Antibodies for NDUFA9
-
Abcam antibodies for NDUFA9
- Invitrogen Antibodies for NDUFA9 (AFLGC-NDUFA9)
-
Biorbyt antibodies for NDUFA9
-
Boster Bio Antibodies for NDUFA9
Protein Products
- Creative Biomart Recombinant Human NDUFA9
- Search Origene for MassSpec and Protein Over-expression Lysates for NDUFA9
- Origene Custom Protein Services for NDUFA9
-
Abcam proteins for NDUFA9
No data available for DME Specific Peptides for NDUFA9 Gene
Domains & Families for NDUFA9 Gene
Gene Families for NDUFA9 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for NDUFA9 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for NDUFA9 Gene
- GenScript: Design optimal peptide antigens:
-
- NADH-ubiquinone oxidoreductase 39 kDa subunit (NDUA9_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q16795- Family:
-
- Belongs to the complex I NDUFA9 subunit family.
Function for NDUFA9 Gene
Molecular function for NDUFA9 Gene
- UniProtKB/Swiss-Prot Function:
- Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Required for proper complex I assembly (PubMed:28671271). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
- GENATLAS Biochemistry:
- NADH ubiquinone oxidoreductase (Q reductase),component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron sulfur-protein 2-like,inner mitochondrial membrane,homolog to 39kDa bovine subunit
Phenotypes From GWAS Catalog for NDUFA9 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003954 | NADH dehydrogenase activity | IBA,NAS | 8486360 |
| GO:0005515 | protein binding | IPI | 19103604 |
| GO:0008137 | NADH dehydrogenase (ubiquinone) activity | NAS | 8486360 |
| GO:0044877 | protein-containing complex binding | IDA | 23209302 |
| GO:0050662 | coenzyme binding | IEA | -- |
Phenotypes for NDUFA9 Gene
- MGI mutant phenotypes for NDUFA9:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for NDUFA9:
-
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular)
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Synthetic lethal with Ras
- Increased transferrin (TF) endocytosis
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NDUFA9 - Select products 50% OFF >
- * NDUFA9 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * NDUFA9 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for NDUFA9
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NDUFA9
- genomics-online: gRNA clones - Search for available NDUFA9 gRNA products
- Overview of 179 available NDUFA9 gene related products
-
Recommended
-
Santa Cruz Biotechnology (SCBT) CRISPR for NDUFA9
miRNA for NDUFA9 Gene
- miRTarBase miRNAs that target NDUFA9
-
- hsa-mir-16-5p (MIRT031528)
- hsa-mir-100-5p (MIRT048492)
- hsa-mir-6738-3p (MIRT626748)
- hsa-mir-4762-3p (MIRT626749)
- hsa-mir-5001-3p (MIRT626750)
- hsa-mir-4727-5p (MIRT626751)
- hsa-mir-4303 (MIRT626752)
- hsa-mir-4524a-3p (MIRT626753)
- hsa-mir-6761-5p (MIRT626754)
- hsa-mir-4329 (MIRT626755)
- hsa-mir-4251 (MIRT626756)
- hsa-mir-4524b-3p (MIRT626757)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NDUFA9
- Browse OriGene Inhibitory RNA Products For NDUFA9
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA9
- genomics-online: shRNA clones - Search for available NDUFA9 shRNA products
- Overview of 179 available NDUFA9 gene related products
-
Recommended
Clone Products
- Applied Biological Materials (abm): Clones for NDUFA9 - Select products 50% OFF >
- * NDUFA9 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * NDUFA9 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for NDUFA9
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NDUFA9
- genomics-online: cdna clones - Search for available NDUFA9 CDNA products
- Overview of 179 available NDUFA9 gene related products
-
Recommended
- orf clones - Search for available NDUFA9 ORF products
- Overview of 179 available NDUFA9 gene related products
-
Recommended
Cell Line Products
-
Horizon Cell Lines for NDUFA9
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA9 Gene
Localization for NDUFA9 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NDUFA9 Gene
- Mitochondrion matrix.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 4 |
| cytosol | 3 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Mitochondria (3)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | HDA | 21630459 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005739 | mitochondrion | IDA,IEA | -- |
| GO:0005747 | mitochondrial respiratory chain complex I | IEA,IDA | 9878551 |
| GO:0005759 | mitochondrial matrix | TAS | -- |
Pathways & Interactions for NDUFA9 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
| 2 | Metabolism |
.40
|
|
| 3 | GABAergic synapse | ||
Pathways by source for NDUFA9 Gene
2 BioSystems pathways for NDUFA9 Gene
8 KEGG pathways for NDUFA9 Gene
Interacting Proteins for NDUFA9 Gene
Selected Interacting proteins:
Q16795-NDUA9_HUMAN
ENSP00000266544
for NDUFA9 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for NDUFA9
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006120 | mitochondrial electron transport, NADH to ubiquinone | TAS | -- |
| GO:0006814 | sodium ion transport | NAS | 8486360 |
| GO:0007623 | circadian rhythm | IDA | 28985504 |
| GO:0009749 | response to glucose | IEA | -- |
| GO:0032981 | mitochondrial respiratory chain complex I assembly | TAS | -- |
No data available for SIGNOR curated interactions for NDUFA9 Gene
Drugs & Compounds for NDUFA9 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| QH2 |
|
56275-39-9 |
|
|||
| Sulfide |
|
18496-25-8 |
|
Drug Products
- Creative Biomart Recombinant Human NDUFA9
Transcripts for NDUFA9 Gene
mRNA/cDNA for NDUFA9 Gene
- 1 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000266544 8356 bps (ENST00000266544.10)
- ENST00000396655 1037 bps (ENST00000396655.6)
- ENST00000535050 512 bps (ENST00000535050.1)
- ENST00000535726 930 bps (ENST00000535726.5)
- ENST00000539573 500 bps (ENST00000539573.5)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NDUFA9 - Select products 50% OFF >
- * NDUFA9 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * NDUFA9 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for NDUFA9
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NDUFA9
- genomics-online: gRNA clones - Search for available NDUFA9 gRNA products
- Overview of 179 available NDUFA9 gene related products
-
Recommended
-
Santa Cruz Biotechnology (SCBT) CRISPR for NDUFA9
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NDUFA9
- Browse OriGene Inhibitory RNA Products For NDUFA9
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA9
- genomics-online: shRNA clones - Search for available NDUFA9 shRNA products
- Overview of 179 available NDUFA9 gene related products
-
Recommended
Clone Products
- Applied Biological Materials (abm): Clones for NDUFA9 - Select products 50% OFF >
- * NDUFA9 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * NDUFA9 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for NDUFA9
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NDUFA9
- genomics-online: cdna clones - Search for available NDUFA9 CDNA products
- Overview of 179 available NDUFA9 gene related products
-
Recommended
- orf clones - Search for available NDUFA9 ORF products
- Overview of 179 available NDUFA9 gene related products
-
Recommended
Relevant External Links for NDUFA9 Gene
- GeneLoc Exon Structure for
- NDUFA9
Expression for NDUFA9 Gene
mRNA differential expression in normal tissues according to GTEx for NDUFA9 Gene
This gene is overexpressed in Heart - Left Ventricle (x4.8).
This gene is overexpressed in Nasal epithelium (14.4) and Heart (10.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFA9 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFA9
SOURCE GeneReport for Unigene cluster for NDUFA9 Gene:
Hs.75227Evidence on tissue expression from TISSUES for NDUFA9 Gene
- Liver(4.6)
- Muscle(4.6)
- Intestine(4.5)
- Blood(4.3)
- Nervous system(4.1)
- Lung(3.2)
- Kidney(2.7)
- Skin(2.5)
- Heart(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA9 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cranial nerve
- eye
- eyelid
- face
- head
- meninges
- neck
Thorax:
- lung
Abdomen:
- liver
General:
- hair
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for NDUFA9
-
OriGene qPCR primer pairs and template standards for NDUFA9
- genomics-online: primer clones - Search for available NDUFA9 Primer products
- Overview of 179 available NDUFA9 gene related products
-
Recommended
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for NDUFA9 Gene
Orthologs for NDUFA9 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NDUFA9 31 30 |
|
OneToMany | |
| dog (Canis familiaris) |
Mammalia | NDUFA9 30 |
|
||
| -- 31 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | NDUFA9 31 30 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Ndufa9 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ndufa9 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| chicken (Gallus gallus) |
Aves | NDUFA9 31 30 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ndufa9 30 |
|
||
| Str.8681 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC64316 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:ch211-251f6.5 31 30 |
|
ManyToMany | |
| ndufa9 31 |
|
ManyToMany | |||
| wufc41f12 30 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.672 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG6020 31 32 30 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010792 30 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | Y53G8AL.2 31 32 30 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT2G20360 30 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0816800 30 |
|
||
| Os.10342 30 |
|
||||
| wheat (Triticum aestivum) |
Liliopsida | Ta.5022 30 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.8933 30 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU02373 30 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8552 31 |
|
OneToMany |
- Species where no ortholog for NDUFA9 was found in the sources mined by GeneCards:
-
- 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)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- 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)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for NDUFA9 Gene
- ENSEMBL:
- Gene Tree for NDUFA9 (if available)
- TreeFam:
- Gene Tree for NDUFA9 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NDUFA9: view image
Paralogs for NDUFA9 Gene
Pseudogenes.org Pseudogenes for NDUFA9 Gene
No data available for Paralogs for NDUFA9 Gene
Variants for NDUFA9 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFA9 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 587683 | Pathogenic: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 4,687,052(+) | C/T | MISSENSE_VARIANT | |
| 669510 | Benign: not provided | 4,659,338(+) | C/T | INTRON_VARIANT | |
| 669511 | Benign: not provided | 4,682,496(+) | C/A | INTRON_VARIANT | |
| 671526 | Benign: not provided | 4,668,183(+) | C/T | INTRON_VARIANT | |
| 671701 | Benign: not provided | 4,654,238(+) | G/C | INTRON_VARIANT |
Residual Variation Intolerance Score:
80.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.74;
46.74% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NDUFA9 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA9 Gene
Disorders for NDUFA9 Gene
(12) MalaCards diseases for NDUFA9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mitochondrial complex i deficiency, nuclear type 26 |
|
|
| leigh syndrome with leukodystrophy |
|
|
| leigh syndrome |
|
|
| loeys-dietz syndrome 4 |
|
|
| liver disease |
|
|
Search NDUFA9 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NDUA9_HUMAN- Mitochondrial complex I deficiency, nuclear type 26 (MC1DN26) [MIM:618247]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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. MC1DN26 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:22114105, ECO:0000269 PubMed:28671271}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for NDUFA9
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for NDUFA9 Gene
Publications for NDUFA9 Gene
- Construction and evaluation of a hncDNA library of human 12p transcribed sequences derived from a somatic cell hybrid. (PMID: 8486360) Baens M … Marynen P (Genomics 1993) 2 3 4 54
- CLOCK Acetylates ASS1 to Drive Circadian Rhythm of Ureagenesis. (PMID: 28985504) Lin R … Guan KL (Molecular cell 2017) 3 4 54
- Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54
- Identification of a molecular component of the mitochondrial acetyltransferase programme: a novel role for GCN5L1. (PMID: 22309213) Scott I … Sack MN (The Biochemical journal 2012) 3 4 54
- Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. (PMID: 22114105) van den Bosch BJ … Smeets HJ (Journal of medical genetics 2012) 3 4 54
ExternalLinks
Products for NDUFA9 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for NDUFA9
- Origene Custom Protein Services for NDUFA9
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NDUFA9
- Browse OriGene Inhibitory RNA Products For NDUFA9
- OriGene qPCR primer pairs for NDUFA9
- OriGene qPCR primer pairs and template standards for NDUFA9
- OriGene CRISPR knockouts for NDUFA9
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For NDUFA9
- Sino Biological Human cDNA Clone for NDUFA9
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- High-throughput Antibody Production Service
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- Novus Biologicals proteins and lysates for NDUFA9
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- Abcam antibodies for NDUFA9
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- Invitrogen Antibodies for NDUFA9 (AFLGC-NDUFA9)
- antibodies-online: Show 13 available NDUFA9 Antibodies ranked by validation data
- Compare Top NDUFA9 Antibodies
- antibodies-online: Search results for available NDUFA9 related products ranked by validation data
- antibodies-online: Search results for available NDUFA9 related products ranked by validation data
- Horizon Cell Lines for NDUFA9
- genomics-online: cdna clones - Search for available NDUFA9 CDNA products
- Overview of 179 available NDUFA9 gene related products
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- orf clones - Search for available NDUFA9 ORF products
- Overview of 179 available NDUFA9 gene related products
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- genomics-online: gRNA clones - Search for available NDUFA9 gRNA products
- Overview of 179 available NDUFA9 gene related products
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- genomics-online: primer clones - Search for available NDUFA9 Primer products
- Overview of 179 available NDUFA9 gene related products
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- genomics-online: shRNA clones - Search for available NDUFA9 shRNA products
- Overview of 179 available NDUFA9 gene related products
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NDUFA9
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NDUFA9
- Search GeneCopoeia for miRNA 3'UTR Target clone products for NDUFA9
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA9
- Boster Bio Antibodies for NDUFA9
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for NDUFA9
Sources for NDUFA9 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
- (114) CDC
- (115) NINDS
- (116) NCBI Bookshelf
- (117) ClinVar
- (118) Gene Damage Index
- (119) HPO
- (120) UDN
- (121) VISTA
- (122) FANTOM5
- (123) ENCODE
- (124) ProSci
- (125) Horizon
- (126) The Signaling Pathways Project (SPP)
- (127) IID
- (128) VectorBuilder
- (129) SNPedia
- (130) BRCA Exchange
- (131) CIViC
- (132) ProteoGenix
- (133) dbSUPER
- (134) TISSUES
- (135) Gene ORGANizer
- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
- (141) HumanCyc
- (142) genomics-online
- (143) UCNEbase
- (144) EPDnew
- (145) Applied Biosystems
- (146) GlyConnect
- (147) Aminode
- (148) GeneCopoeia
- (149) GPS-Prot
- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
- (164) ENA
- (165) GtRNAdb
- (166) LncBase
- (167) LncBook
- (168) LNCipedia
- (169) LncRNAdb
- (170) Modomics
- (171) PDBe
- (172) Rfam
- (173) SILVA
- (174) snOPY
- (175) SRPDB
- (176) GENCODE
- (177) TarBase
- (178) MyBioSource