Gene Gene information from NCBI Gene database.
Entrez ID 28976
Gene name Acyl-CoA dehydrogenase family member 9
Gene symbol ACAD9
Synonyms (NCBI Gene)
MC1DN20NPD002
Chromosome 3
Chromosome location 3q21.3
Summary 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
SNPs SNP information provided by dbSNP.
21
SNP ID Visualize variation Clinical significance Consequence
rs115532916 G>A,C Pathogenic, conflicting-interpretations-of-pathogenicity, benign Non coding transcript variant, missense variant, coding sequence variant
rs146453758 C>T Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs149753643 G>A Pathogenic-likely-pathogenic, pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs368949613 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs370266841 G>A Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
90
miRTarBase ID miRNA Experiments Reference
MIRT040112 hsa-miR-615-3p CLASH 23622248
MIRT2165753 hsa-miR-103a CLIP-seq
MIRT2165754 hsa-miR-107 CLIP-seq
MIRT2165755 hsa-miR-1228 CLIP-seq
MIRT2165756 hsa-miR-15a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001676 Process Long-chain fatty acid metabolic process IDA 16020546
GO:0003995 Function Acyl-CoA dehydrogenase activity IBA
GO:0003995 Function Acyl-CoA dehydrogenase activity IEA
GO:0004466 Function Long-chain fatty acyl-CoA dehydrogenase activity IDA 16020546
GO:0004466 Function Long-chain fatty acyl-CoA dehydrogenase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611103 21497 ENSG00000177646
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H845
Protein name Complex I assembly factor ACAD9, mitochondrial (Acyl-CoA dehydrogenase family member 9) (ACAD-9) (EC 1.3.8.-)
Protein function As part of the MCIA complex, primarily participates in the assembly of the mitochondrial complex I and therefore plays a role in oxidative phosphorylation (PubMed:20816094, PubMed:24158852, PubMed:32320651). This moonlighting protein also has a
PDB 8PHE , 8PHF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02771 Acyl-CoA_dh_N 65 173 Acyl-CoA dehydrogenase, N-terminal domain Domain
PF02770 Acyl-CoA_dh_M 177 278 Acyl-CoA dehydrogenase, middle domain Domain
PF00441 Acyl-CoA_dh_1 290 441 Acyl-CoA dehydrogenase, C-terminal domain Domain
Tissue specificity 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 (
Sequence
MSGCGLFLRTTAAARACRGLVVSTANRRLLRTSPPVRAFAKELFLGKIKKKEVFPFPEVS
QDELNEINQFLGPVEKFFTEEVDSRKIDQEGKIPDETLEKLKSLGLFGLQVPEEYGGLGF
SNTMYSRLGEIISMDGSITVTLAAHQAIGLKGIILAGTEEQKAKYLPKLASGE
HIAAFCL
TEPASGSDAASIRSRATLSEDKKHYILNGSKVWITNGGLANIFTVFAKTEVVDSDGSVKD
KITAFIVERDFGGVTNGKPEDKLGIRGSNTCEVHFENT
KIPVENILGEVGDGFKVAMNIL
NSGRFSMGSVVAGLLKRLIEMTAEYACTRKQFNKRLSEFGLIQEKFALMAQKAYVMESMT
YLTAGMLDQPGFPDCSIEAAMVKVFSSEAAWQCVSEALQILGGLGYTRDYPYERILRDTR
ILLIFEGTNEILRMYIALTGL
QHAGRILTTRIHELKQAKVSTVMDTVGRRLRDSLGRTVD
LGLTGNHGVVHPSLADSANKFEENTYCFGRTVETLLLRFGKTIMEEQLVLKRVANILINL
YGMTAVLSRASRSIRIGLRNHDHEVLLANTFCVEAYLQNLFSLSQLDKYAPENLDEQIKK
VSQQILEKRAYICAHPLDRTC
Sequence length 621
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Complex I biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ACAD9-related disorder Likely pathogenic; Pathogenic rs753711253, rs150283105 RCV004755828
RCV003391001
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acyl-CoA dehydrogenase 9 deficiency Pathogenic; Likely pathogenic rs766305690, rs1935194749, rs750089899, rs148694290, rs2107657717, rs1314818291, rs781043714, rs763004980, rs2107653861, rs2107655510, rs773949927, rs2107648799, rs777282696, rs2107664575, rs2107656502
View all (82 more)
RCV001333000
RCV001335613
RCV001831359
RCV003469743
RCV003469731
View all (96 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial complex I deficiency Likely pathogenic; Pathogenic rs2107657797, rs777282696, rs2107664575, rs2529261830, rs2529262095, rs863224844, rs753711253, rs149753643, rs150283105, rs2529107329, rs1012004126, rs368949613, rs115532916, rs377022708, rs766026673 RCV002307793
RCV004579582
RCV002509733
RCV002302539
RCV004587398
View all (10 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Possible mitochondrial disorder - nuclear genes Likely pathogenic; Pathogenic rs115532916 RCV005865087
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 27483465, 30025539 Associate
★☆☆☆☆
Found in Text Mining only
Acyl-CoA dehydrogenase 9 deficiency Acyl CoA Dehydrogenase Deficiency Orphanet
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Acyl CoA Dehydrogenase Deficiency CLINGEN_DG 12359260, 16020546, 16750164, 17564966, 20816094, 21057504, 22499348, 25721401, 26669660
★☆☆☆☆
Found in Text Mining only
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Acyl CoA Dehydrogenase Deficiency ORPHANET_DG 17564966
★☆☆☆☆
Found in Text Mining only
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Acyl CoA Dehydrogenase Deficiency GENOMICS_ENGLAND_DG 21057504, 27604308
★☆☆☆☆
Found in Text Mining only
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Acyl CoA Dehydrogenase Deficiency BEFREE 25721401
★☆☆☆☆
Found in Text Mining only
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Acyl CoA Dehydrogenase Deficiency CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Cardiomegaly Cardiomegaly Pubtator 26669660 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 17564966, 30025539, 37240454 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 26826406, 30025539, 31473688
★☆☆☆☆
Found in Text Mining only