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 ... See more...

Aliases for ACAD9 Gene

Aliases for ACAD9 Gene

  • Acyl-CoA Dehydrogenase Family Member 9 2 3 4 5
  • Complex I Assembly Factor ACAD9, Mitochondrial 3 4
  • Acyl-Coenzyme A Dehydrogenase Family, Member 9 2 3
  • Very-Long-Chain Acyl-CoA Dehydrogenase VLCAD 3
  • Acyl-CoA Dehydrogenase Family, Member 9 2
  • EC 1.3.99.10 52
  • EC 1.3.8.- 4
  • EC 1.3.99 52
  • MC1DN20 3
  • 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
  • GC03P129990
  • GC03P130094
  • GC03P130146
  • GC03P129259
  • GC03P129346
  • GC03P129428
  • GC03P129519
  • GC03P129619
  • GC03P129705
  • GC03P129793
  • GC03P129907

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, Nuclear Type 20 and Metabolic Acidosis. Among its related pathways are Metabolism and Glucose / Energy Metabolism. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACADVL.

UniProtKB/Swiss-Prot Summary for ACAD9 Gene

  • As part of the MCIA complex, primarily participates to the assembly of the mitochondrial complex I and therefore plays a role in oxidative phosphorylation (PubMed:20816094, PubMed:24158852). This moonlighting protein has also a dehydrogenase activity toward a broad range of substrates with greater specificity for long-chain unsaturated acyl-CoAs (PubMed:12359260, PubMed:16020546, PubMed:21237683, PubMed:24158852). However, in vivo, it does not seem to play a primary role in fatty acid oxidation (PubMed:20816094, PubMed:24158852). In addition, the function in complex I assembly is independent of the dehydrogenase activity of the protein (PubMed:24158852).

Gene Wiki entry for ACAD9 Gene

Additional gene information for ACAD9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACAD9 Gene

Genomics for ACAD9 Gene

GeneHancer (GH) Regulatory Elements for ACAD9 Gene

Promoters and enhancers for ACAD9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J128877 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 523.4 -0.3 -303 4.4 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G USF1 SP1 PHF8 JUND ACAD9 ENSG00000231305 RAB7A ENSG00000287110 piR-56407
GH03J128897 Promoter 0.3 EPDnew 500.4 +18.1 18127 0.1 ACAD9 piR-31849 piR-56407
GH03J128845 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE 30.3 -33.5 -33471 2 ZNF217 CTCF ZIC2 ZNF423 TARDBP REST KLF4 RFX1 CUX1 ZBTB25 MARK2P17 MIR12124-001 piR-39736 piR-36874 piR-37003 lnc-KIAA1257-6 piR-37609-002 piR-40617 piR-30092 piR-35401
GH03J128854 Promoter/Enhancer 1 FANTOM5 Ensembl 36.1 -24.7 -24689 0.4 TRIM24 TRIM28 SPI1 XRCC3 ZNF280A SKIL CBX1 CBX5 CEBPZ HLTF MARK2P6 lnc-KIAA1257-5 piR-34033 piR-43400 piR-34813 piR-43761 piR-44467 piR-35258 piR-46045 piR-50451-001
GH03J129591 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 +721.5 721484 19.4 EP300 FOXK2 ZSCAN5C POLR2G NCOR1 JUND FOS TEAD4 ZFX ZNF639 PLXND1 ACAD9 RHO ENSG00000244932 RPL32P3 IFT122 LINC02021 ENSG00000203644 H1-8 COPG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACAD9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACAD9

Top Transcription factor binding sites by QIAGEN in the ACAD9 gene promoter:
  • AP-4
  • c-Myc
  • C/EBPbeta
  • CUTL1
  • Gfi-1
  • HEN1
  • Max1
  • Meis-1
  • Meis-1a

Genomic Locations for ACAD9 Gene

Genomic Locations for ACAD9 Gene
chr3:128,879,490-128,916,067
(GRCh38/hg38)
Size:
36,578 bases
Orientation:
Plus strand
chr3:128,598,333-128,634,910
(GRCh37/hg19)
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:
    Complex I assembly factor ACAD9, 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:
    • Homodimer (PubMed:16020546). Part of the mitochondrial complex I assembly/MCIA complex that comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9 (By similarity). Interacts with NDUFAF1 and ECSIT (PubMed:20816094).

neXtProt entry for ACAD9 Gene

Selected DME Specific Peptides for ACAD9 Gene

Q9H845:
  • VLSRASRS
  • AAFCLTEP
  • LIQEKFA
  • IFTVFAKT
  • RGSNTCE

Post-translational modifications for ACAD9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACAD9 Gene

Gene Families for ACAD9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ACAD9 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-CoA dehydrogenase family member 9, mitochondrial (ACAD9_HUMAN)
  • ACAD9 protein (Q9BUX5_HUMAN)
  • cDNA FLJ53144, highly similar to Acyl-CoA dehydrogenase family member 9, mitochondrial (EC 1.3.99.-) (Q9H9W4_HUMAN)

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:
As part of the MCIA complex, primarily participates to the assembly of the mitochondrial complex I and therefore plays a role in oxidative phosphorylation (PubMed:20816094, PubMed:24158852). This moonlighting protein has also a dehydrogenase activity toward a broad range of substrates with greater specificity for long-chain unsaturated acyl-CoAs (PubMed:12359260, PubMed:16020546, PubMed:21237683, PubMed:24158852). However, in vivo, it does not seem to play a primary role in fatty acid oxidation (PubMed:20816094, PubMed:24158852). In addition, the function in complex I assembly is independent of the dehydrogenase activity of the protein (PubMed:24158852).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=eicosanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-eicosenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47236, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57380, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:74691; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47237; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + octadecanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-octadecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47240, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57394, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:71412; Evidence={ECO:0000269 PubMed:12359260, ECO:0000269 PubMed:16020546, ECO:0000269 PubMed:21237683}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47241; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hexadecanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-hexadecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43448, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57379, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61526; Evidence={ECO:0000269 PubMed:12359260, ECO:0000269 PubMed:16020546, ECO:0000269 PubMed:21237683, ECO:0000269 PubMed:24158852}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43449; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=decanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-decenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48176, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61406, ChEBI:CHEBI:61430; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48177; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + nonanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-nonenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48208, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:76291, ChEBI:CHEBI:76292; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48209; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + oxidized [electron-transfer flavoprotein] + pentadecanoyl-CoA = (2E)-pentadecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48204, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:74309, ChEBI:CHEBI:77545; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48205; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + oxidized [electron-transfer flavoprotein] + undecanoyl-CoA = reduced [electron-transfer flavoprotein] + trans-2-undecenoyl-CoA; Xref=Rhea:RHEA:48200, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:77547, ChEBI:CHEBI:77548; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48201; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-hexadecenoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E,9Z)-hexadecadienoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47304, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61540, ChEBI:CHEBI:77549; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47305; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + heptadecanoyl-CoA + oxidized [electron-transfer flavoprotein] = reduced [electron-transfer flavoprotein] + trans-2-heptadecenoyl-CoA; Xref=Rhea:RHEA:48196, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:74307, ChEBI:CHEBI:77551; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48197; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9E)-octadecenoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E,9E)-octadecadienoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48192, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:77537, ChEBI:CHEBI:77552; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48193; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E,9Z)-octadecadienoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47300, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57387, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:77553; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47301; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z,12Z)-octadecadienoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E,9Z,12Z)-octadecatrienoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48188, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57383, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:77558; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48189; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E,4Z,7Z,10Z,13Z,16Z,19Z)-docosaheptaenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48184, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:74298, ChEBI:CHEBI:77559; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48185; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + oxidized [electron-transfer flavoprotein] + tetradecanoyl-CoA = (2E)-tetradecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47316, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57385, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61405; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47317; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.8 uM for hexadecanoyl-CoA {ECO:0000269 PubMed:16020546}; KM=0.7 uM for (9Z)-hexadecenoyl-CoA {ECO:0000269 PubMed:16020546}; KM=2.1 uM for (9Z,12Z)-octadecadienoyl-CoA {ECO:0000269 PubMed:16020546};

Enzyme Numbers (IUBMB) for ACAD9 Gene

Phenotypes From GWAS Catalog 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 21873635
GO:0003995 acyl-CoA dehydrogenase activity IEA --
GO:0004466 long-chain-acyl-CoA dehydrogenase activity IDA 16020546
GO:0005515 protein binding IPI 20816094
GO:0016491 oxidoreductase activity IEA --
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

CRISPR Products

miRNA for ACAD9 Gene

miRTarBase miRNAs that target ACAD9

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAD9

Clone Products

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 inner membrane; Peripheral membrane protein; Matrix side. Note=Essentially associated with membranes. {ECO:0000269 PubMed:16020546}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACAD9 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 16020546
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
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:0001676 long-chain fatty acid metabolic process IDA 16020546
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0051791 medium-chain fatty acid metabolic process IDA 16020546
GO:0055114 oxidation-reduction process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0
pyruvate Pharma 81

(32) 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
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
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-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • 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

mRNA/cDNA for ACAD9 Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAD9

Clone Products

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

Expression for ACAD9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ACAD9 Gene



Protein tissue co-expression partners for ACAD9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACAD9

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 (PubMed:12359260). In the cerebellum uniquely expressed in the granular layer (at protein level) (PubMed:21237683).

Evidence on tissue expression from TISSUES for ACAD9 Gene

  • Nervous system(4.5)
  • Liver(4.4)
  • Lung(4.4)
  • Blood(4.2)
  • Lymph node(4.2)
  • Spleen(4.2)
  • Heart(2.3)
  • Intestine(2.3)
  • Muscle(2.2)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACAD9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with ACAD9: view

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
chimpanzee
(Pan troglodytes)
Mammalia ACAD9 31 30
  • 99.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACAD9 31 30
  • 86.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACAD9 31 30
  • 84.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acad9 17 31 30
  • 84.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACAD9 31
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acad9 30
  • 83.84 (n)
oppossum
(Monodelphis domestica)
Mammalia ACAD9 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACAD9 31 30
  • 71.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACAD9 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acad9 30
  • 71.12 (n)
Str.15930 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.6057 30
zebrafish
(Danio rerio)
Actinopterygii acad9 31 30
  • 68.52 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8949 30
Species where no ortholog for ACAD9 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACAD9: view image

Paralogs for ACAD9 Gene

(7) SIMAP similar genes for ACAD9 Gene using alignment to 9 proteins:

  • ACAD9_HUMAN
  • D6R9Z3_HUMAN
  • D6RCD8_HUMAN
  • D6RDK9_HUMAN
  • D6RGK6_HUMAN
  • D6RJA8_HUMAN
  • H0Y8Z9_HUMAN
  • Q9BUX5_HUMAN
  • Q9H9W4_HUMAN
genes like me logo Genes that share paralogs with ACAD9: view

Variants for ACAD9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACAD9 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
638407 Pathogenic: Acyl-CoA dehydrogenase family, member 9, deficiency of 128,908,249(+) T/TGACTA FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
671703 Benign: not provided 128,902,520(+) A/G INTRON_VARIANT
671704 Benign: not provided 128,909,156(+) T/C INTRON_VARIANT
672593 Likely Benign: not provided 128,910,434(+) C/T INTRON_VARIANT
673569 Benign: not provided 128,895,720(+) T/TCTC INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ACAD9 Gene

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)

Additional Variant Information for ACAD9 Gene

Human Gene Mutation Database (HGMD)
ACAD9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACAD9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ACAD9 Gene

Disorders for ACAD9 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ACAD9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 20
  • mc1dn20
metabolic acidosis
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
mitochondrial encephalomyopathy
  • mitochondrial encephalomyopathies
multiple acyl-coa dehydrogenase deficiency
  • madd
- 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
  • Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [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, ECO:0000269 PubMed:26741492}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ACAD9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Biochemical and biophysical research communications 2002) 2 3 4 23 54
  2. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. (PMID: 21057504) Haack TB … Prokisch H (Nature genetics 2010) 2 3 4 54
  3. Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. (PMID: 20816094) Nouws J … Vogel RO (Cell metabolism 2010) 2 3 4 54
  4. A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. (PMID: 17564966) He M … Vockley J (American journal of human genetics 2007) 3 4 23 54
  5. Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids. (PMID: 16020546) Ensenauer R … Vockley J (The Journal of biological chemistry 2005) 3 4 23 54

Products for ACAD9 Gene

Sources for ACAD9 Gene