• Gene id: 28976

Gene Summary

• Gene Symbol: ACAD9   Gene   UCSC   Ensembl
• Aliases: MC1DN20, NPD002
• Gene name: acyl-CoA dehydrogenase family member 9
• Alternate names: complex I assembly factor ACAD9, mitochondrial, acyl-Coenzyme A dehydrogenase family, member 9, very-long-chain acyl-CoA dehydrogenase VLCAD,
• Gene location: 3q21.3 (113975074: 113990312)     Exons: 10     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 611103

Protein Summary

• Protein general information: Q9H845  
  • Name: Complex I assembly factor ACAD9, mitochondrial (Acyl CoA dehydrogenase family member 9) (ACAD 9) (EC 1.3.8. )
  • Length: 621  
  • Mass: 68760
  • 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
• Sequence:

  MSGCGLFLRTTAAARACRGLVVSTANRRLLRTSPPVRAFAKELFLGKIKKKEVFPFPEVSQDELNEINQFLGPVE
  KFFTEEVDSRKIDQEGKIPDETLEKLKSLGLFGLQVPEEYGGLGFSNTMYSRLGEIISMDGSITVTLAAHQAIGL
  KGIILAGTEEQKAKYLPKLASGEHIAAFCLTEPASGSDAASIRSRATLSEDKKHYILNGSKVWITNGGLANIFTV
  FAKTEVVDSDGSVKDKITAFIVERDFGGVTNGKPEDKLGIRGSNTCEVHFENTKIPVENILGEVGDGFKVAMNIL
  NSGRFSMGSVVAGLLKRLIEMTAEYACTRKQFNKRLSEFGLIQEKFALMAQKAYVMESMTYLTAGMLDQPGFPDC
  SIEAAMVKVFSSEAAWQCVSEALQILGGLGYTRDYPYERILRDTRILLIFEGTNEILRMYIALTGLQHAGRILTT
  RIHELKQAKVSTVMDTVGRRLRDSLGRTVDLGLTGNHGVVHPSLADSANKFEENTYCFGRTVETLLLRFGKTIME
  EQLVLKRVANILINLYGMTAVLSRASRSIRIGLRNHDHEVLLANTFCVEAYLQNLFSLSQLDKYAPENLDEQIKK
  VSQQILEKRAYICAHPLDRTC

• Structural information:
  • Interpro: IPR006089  IPR006091  IPR036250  IPR009075  IPR013786   IPR037069  IPR009100  
  • Prosite: PS00072 PS00073
  • DIP: 53699
  • STRING: ENSP00000312618
• Other Databases: GeneCards:  ACAD9  Malacards:  ACAD9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017099	very-long-chain-acyl-CoA dehydrogenase activity	IBA	molecular function
GO:0000062	fatty-acyl-CoA binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003995	acyl-CoA dehydrogenase activity	IEA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0004466	long-chain-acyl-CoA dehydrogenase activity	IDA	molecular function
GO:0070991	medium-chain-acyl-CoA dehydrogenase activity	IDA	molecular function
GO:0001676	long-chain fatty acid metabolic process	IDA	biological process
GO:0051791	medium-chain fatty acid metabolic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0030425	dendrite	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component

Diseases

Associated diseases	References
Mitochondrial complex I deficiency	KEGG:H00473
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Acyl-CoA dehydrogenase 9 deficiency	KEGG:H02085
Mitochondrial complex I deficiency	KEGG:H00473
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Acyl-CoA dehydrogenase 9 deficiency	KEGG:H02085
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)