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Aliases for ACAD9 Gene

Aliases for ACAD9 Gene

  • Acyl-CoA Dehydrogenase Family, Member 9 2 3
  • Acyl-Coenzyme A Dehydrogenase Family, Member 9 2 3
  • Acyl-CoA Dehydrogenase Family Member 9, Mitochondrial 3
  • Very-Long-Chain Acyl-CoA Dehydrogenase VLCAD 3
  • EC 1.3.99.10 64
  • EC 1.3.99.- 4
  • EC 1.3.99 64
  • NPD002 3
  • ACAD-9 4

External Ids for ACAD9 Gene

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 acad9 deficiency and acyl-coa dehydrogenase 9 deficiency. Among its related pathways are Glucose / Energy Metabolism. 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

Genomic Location for ACAD9 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACAD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAD9 Gene

Regulatory Elements 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 for ACAD9 Gene

Gene Families for ACAD9 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

UniProtKB/Swiss-Prot:

ACAD9_HUMAN
Family:
  • Belongs to the acyl-CoA dehydrogenase family.:
    • Q9H845
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:0003995 acyl-CoA dehydrogenase activity IEA --
GO:0005515 protein binding IPI 20816094
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with ACAD9: view

miRNA for ACAD9 Gene

miRTarBase miRNAs that target ACAD9

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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
nucleus 5
mitochondrion 4
cytosol 2

Gene Ontology (GO) - Cellular Components for ACAD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21237683
GO:0005739 mitochondrion IDA --
GO:0030425 dendrite IDA 21237683
genes like me logo Genes that share ontologies with ACAD9: view

Pathways for ACAD9 Gene

SuperPathways for ACAD9 Gene

Superpath Contained pathways
1 Glucose / Energy Metabolism
genes like me logo Genes that share pathways with ACAD9: view

Pathways by source for ACAD9 Gene

1 Cell Signaling Technology pathway for ACAD9 Gene

Gene Ontology (GO) - Biological Process for ACAD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process --
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 20816094
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ACAD9: view

Compounds for ACAD9 Gene

(33) HMDB Compounds for ACAD9 Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4

(2) Novoseek inferred chemical compound relationships for ACAD9 Gene

Compound -log(P) Hits PubMed IDs
acyl-coa 81.7 9
fatty acid 58.8 1
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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with ACAD9: view

Orthologs for ACAD9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ACAD9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACAD9 36
  • 99.73 (n)
  • 100 (a)
ACAD9 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACAD9 36
  • 84.49 (n)
  • 85.83 (a)
ACAD9 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACAD9 36
  • 86.23 (n)
  • 86.5 (a)
ACAD9 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acad9 36
  • 84.01 (n)
  • 86.27 (a)
Acad9 16
Acad9 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACAD9 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACAD9 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acad9 36
  • 83.84 (n)
  • 85.95 (a)
chicken
(Gallus gallus)
Aves ACAD9 36
  • 71.07 (n)
  • 74.09 (a)
ACAD9 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACAD9 37
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6057 36
tropical clawed frog
(Silurana tropicalis)
Amphibia acad9 36
  • 71.12 (n)
  • 73.62 (a)
Str.15930 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8949 36
zebrafish
(Danio rerio)
Actinopterygii acad9 36
  • 68.52 (n)
  • 71.21 (a)
acad9 37
  • 68 (a)
OneToOne
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 MAF
rs789213 -- 128,897,516(-) AAAAT(C/G)AAGGG intron-variant
rs789224 -- 128,879,388(+) GGCCC(A/C)GGGCC upstream-variant-2KB
rs789225 -- 128,881,386(+) cagtc(A/G)gatga intron-variant
rs789226 -- 128,881,395(+) gagaa(C/G)ttcac intron-variant
rs789227 -- 128,881,742(+) ggttt(C/G)tgaat intron-variant

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

Relevant External Links for ACAD9 Gene

HapMap Linkage Disequilibrium report
ACAD9
Human Gene Mutation Database (HGMD)
ACAD9

Disorders for ACAD9 Gene

(1) OMIM Diseases for ACAD9 Gene (611103)

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.

(1) Novoseek inferred disease relationships for ACAD9 Gene

Disease -log(P) Hits PubMed IDs
cancer 0 1

Relevant External Links for ACAD9

Genetic Association Database (GAD)
ACAD9
Human Genome Epidemiology (HuGE) Navigator
ACAD9
genes like me logo Genes that share disorders with ACAD9: view

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
  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 4
  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
  4. A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. (PMID: 17564966) He M. … Vockley J. (Am. J. Hum. Genet. 2007) 3 4 23
  5. 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

Products for ACAD9 Gene

Sources for ACAD9 Gene

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