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Aliases for ACAD9 Gene

Aliases for ACAD9 Gene

  • Acyl-CoA Dehydrogenase Family Member 9 2 3 5
  • Acyl-Coenzyme A Dehydrogenase Family, Member 9 2 3
  • Acyl-CoA Dehydrogenase Family, Member 9 2 3
  • Very-Long-Chain Acyl-CoA Dehydrogenase VLCAD 3
  • EC 1.3.99.10 63
  • EC 1.3.99.- 4
  • EC 1.3.99 63
  • NPD002 3
  • ACAD-9 4

External Ids for ACAD9 Gene

Previous GeneCards Identifiers for ACAD9 Gene

  • GC03P129880
  • GC03P129919
  • GC03P130081
  • GC03P128599
  • GC03P125986
  • GC03P128600
  • GC03P128671
  • GC03P128848
  • GC03P128931
  • GC03P129047
  • GC03P129083
  • GC03P129171

Summaries for ACAD9 Gene

Entrez Gene Summary for ACAD9 Gene

  • This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

GeneCards Summary for ACAD9 Gene

ACAD9 (Acyl-CoA Dehydrogenase Family Member 9) is a Protein Coding gene. Diseases associated with ACAD9 include Mitochondrial Complex I Deficiency Due To Acad9 Deficiency and Fatal Infantile Encephalocardiomyopathy. Among its related pathways are Glucose / Energy Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACAD8.

UniProtKB/Swiss-Prot for ACAD9 Gene

  • Required for mitochondrial complex I assembly (PubMed:20816094, PubMed:24158852). Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more active on palmitoyl-CoA than on stearoyl-CoA. However, it does not play a primary role in long-chain fatty acid oxidation in vivo (PubMed:20816094, PubMed:24158852). Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0).

Gene Wiki entry for ACAD9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAD9 Gene

Genomics for ACAD9 Gene

Regulatory Elements for ACAD9 Gene

Enhancers for ACAD9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACAD9 on UCSC Golden Path with GeneCards custom track

Promoters for ACAD9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACAD9 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACAD9 Gene

Chromosome:
3
Start:
128,879,490 bp from pter
End:
128,916,067 bp from pter
Size:
36,578 bases
Orientation:
Plus strand

Genomic View for ACAD9 Gene

Genes around ACAD9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAD9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAD9 Gene

Proteins for ACAD9 Gene

  • Protein details for ACAD9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H845-ACAD9_HUMAN
    Recommended name:
    Acyl-CoA dehydrogenase family member 9, mitochondrial
    Protein Accession:
    Q9H845
    Secondary Accessions:
    • D3DNB8
    • Q8WXX3

    Protein attributes for ACAD9 Gene

    Size:
    621 amino acids
    Molecular mass:
    68760 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9 (By similarity). Interacts with NDUFAF1 and ECSIT (PubMed:20816094).

neXtProt entry for ACAD9 Gene

Proteomics data for ACAD9 Gene at MOPED

Selected DME Specific Peptides for ACAD9 Gene

Post-translational modifications for ACAD9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACAD9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H845

UniProtKB/Swiss-Prot:

ACAD9_HUMAN :
  • Belongs to the acyl-CoA dehydrogenase family.
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACAD9: view

Function for ACAD9 Gene

Molecular function for ACAD9 Gene

UniProtKB/Swiss-Prot Function:
Required for mitochondrial complex I assembly (PubMed:20816094, PubMed:24158852). Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more active on palmitoyl-CoA than on stearoyl-CoA. However, it does not play a primary role in long-chain fatty acid oxidation in vivo (PubMed:20816094, PubMed:24158852). Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0).

Enzyme Numbers (IUBMB) for ACAD9 Gene

Gene Ontology (GO) - Molecular Function for ACAD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IBA --
GO:0009055 electron carrier activity IBA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0050660 flavin adenine dinucleotide binding IEA,IBA --
genes like me logo Genes that share ontologies with ACAD9: view
genes like me logo Genes that share phenotypes with ACAD9: view

Human Phenotype Ontology for ACAD9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ACAD9 Gene

miRTarBase miRNAs that target ACAD9

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACAD9 Gene

Localization for ACAD9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAD9 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACAD9 Gene COMPARTMENTS Subcellular localization image for ACAD9 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ACAD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030425 dendrite IDA 21237683
genes like me logo Genes that share ontologies with ACAD9: view

Pathways & Interactions for ACAD9 Gene

genes like me logo Genes that share pathways with ACAD9: view

Gene Ontology (GO) - Biological Process for ACAD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055088 lipid homeostasis IBA --
genes like me logo Genes that share ontologies with ACAD9: view

No data available for SIGNOR curated interactions for ACAD9 Gene

Drugs & Compounds for ACAD9 Gene

(3) Drugs for ACAD9 Gene - From: ClinicalTrials and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Propionyl-CoA Experimental Pharma 0
pyruvate Nutra 30

(33) Additional Compounds for ACAD9 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with ACAD9: view

Transcripts for ACAD9 Gene

Unigene Clusters for ACAD9 Gene

Acyl-CoA dehydrogenase family, member 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACAD9 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP1: - - - -
SP2: -
SP3: - - - - -
SP4: - - - - -
SP5: -
SP6:
SP7: - - -
SP8: - - - - -
SP9: - -
SP10: - - - - - -
SP11: - - -
SP12: - -
SP13: - - -

Relevant External Links for ACAD9 Gene

GeneLoc Exon Structure for
ACAD9
ECgene alternative splicing isoforms for
ACAD9

Expression for ACAD9 Gene

mRNA expression in normal human tissues for ACAD9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACAD9 Gene

This gene is overexpressed in Bone (8.6), Peripheral blood mononuclear cells (7.9), and Heart (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ACAD9 Gene



SOURCE GeneReport for Unigene cluster for ACAD9 Gene Hs.567482

mRNA Expression by UniProt/SwissProt for ACAD9 Gene

Q9H845-ACAD9_HUMAN
Tissue specificity: Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver.
genes like me logo Genes that share expression patterns with ACAD9: view

Protein tissue co-expression partners for ACAD9 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for ACAD9 Gene

Orthologs for ACAD9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ACAD9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACAD9 35
  • 84.49 (n)
  • 85.83 (a)
ACAD9 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACAD9 35
  • 86.23 (n)
  • 86.5 (a)
ACAD9 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acad9 35
  • 84.01 (n)
  • 86.27 (a)
Acad9 16
Acad9 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACAD9 35
  • 99.73 (n)
  • 100 (a)
ACAD9 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acad9 35
  • 83.84 (n)
  • 85.95 (a)
oppossum
(Monodelphis domestica)
Mammalia ACAD9 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACAD9 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACAD9 35
  • 71.07 (n)
  • 74.09 (a)
ACAD9 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACAD9 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acad9 35
  • 71.12 (n)
  • 73.62 (a)
Str.15930 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.6057 35
zebrafish
(Danio rerio)
Actinopterygii acad9 35
  • 68.52 (n)
  • 71.21 (a)
acad9 36
  • 68 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8949 35
Species with no ortholog for ACAD9:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 (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 ACAD9 Gene

ENSEMBL:
Gene Tree for ACAD9 (if available)
TreeFam:
Gene Tree for ACAD9 (if available)

Paralogs for ACAD9 Gene

Paralogs for ACAD9 Gene

genes like me logo Genes that share paralogs with ACAD9: view

Variants for ACAD9 Gene

Sequence variations from dbSNP and Humsavar for ACAD9 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs4494951 - 128,909,044(+) GGGCC(A/G)AACTG nc-transcript-variant, downstream-variant-500B, reference, missense
rs387907041 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) 128,879,821(+) AGCTT(A/T)TCCTA nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_071893 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency)
rs377547811 - 128,897,654(+) CAATC(C/T)GGAGC nc-transcript-variant, reference, missense
VAR_071895 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency)

Structural Variations from Database of Genomic Variants (DGV) for ACAD9 Gene

Variant ID Type Subtype PubMed ID
nsv877465 CNV Gain 21882294
nsv877466 CNV Gain 21882294

Variation tolerance for ACAD9 Gene

Residual Variation Intolerance Score: 24.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.84; 48.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACAD9 Gene

Human Gene Mutation Database (HGMD)
ACAD9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACAD9 Gene

Disorders for ACAD9 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ACAD9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency due to acad9 deficiency
  • acad9 deficiency
fatal infantile encephalocardiomyopathy
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
glutaric acidemia iic
  • glutaric acidemia iia
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
- elite association - COSMIC cancer census association via MalaCards
Search ACAD9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACAD9_HUMAN
  • Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126]: An autosomal recessive metabolic disorder associated with mitochondrial complex I deficiency, resulting in multisystemic and variable manifestations. Clinical features include infantile onset of acute metabolic acidosis, Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death), exercise intolerance, hypertrophic cardiomyopathy, liver failure, muscle weakness, and neurologic dysfunction. {ECO:0000269 PubMed:17564966, ECO:0000269 PubMed:20816094, ECO:0000269 PubMed:20929961, ECO:0000269 PubMed:21057504, ECO:0000269 PubMed:22499348, ECO:0000269 PubMed:23836383, ECO:0000269 PubMed:23996478}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACAD9

Genetic Association Database (GAD)
ACAD9
Human Genome Epidemiology (HuGE) Navigator
ACAD9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACAD9
genes like me logo Genes that share disorders with ACAD9: view

No data available for Genatlas for ACAD9 Gene

Publications for ACAD9 Gene

  1. Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family. (PMID: 12359260) Zhang J. … Cao X. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 23 67
  2. Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. (PMID: 20816094) Nouws J. … Vogel R.O. (Cell Metab. 2010) 2 3
  3. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. (PMID: 21057504) Haack T.B. … Prokisch H. (Nat. Genet. 2010) 2 3
  4. Carnitine palmitoyltransferase I and Acyl-CoA dehydrogenase 9 in retina: insights of retinopathy in mitochondrial trifunctional protein defects. (PMID: 18385088) Roomets E. … Tyni T. (Invest. Ophthalmol. Vis. Sci. 2008) 3 23
  5. A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. (PMID: 17564966) He M. … Vockley J. (Am. J. Hum. Genet. 2007) 3 23

Products for ACAD9 Gene

Sources for ACAD9 Gene

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