Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (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
rs387907041	T>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs387907042	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs753711253	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs761102100	G>A,C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs762521317	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs773586510	G>A,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs773949927	A>G,T	Pathogenic	Non coding transcript variant, missense variant, initiator codon variant, 5 prime UTR variant
rs777282696	C>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs781156571	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224844	T>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs863225056	T>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863225057	T>G	Pathogenic	Missense variant, initiator codon variant, non coding transcript variant, 5 prime UTR variant
rs863225058	A>G,T	Pathogenic	Splice acceptor variant, intron variant
rs1553730947	AAGACTG>CAGTAAAACATC	Likely-pathogenic	Inframe indel, non coding transcript variant, stop gained, coding sequence variant
rs1576344664	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1576347955	->GACTA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all (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
MIRT2165757	hsa-miR-15b	CLIP-seq
MIRT2165758	hsa-miR-16	CLIP-seq
MIRT2165759	hsa-miR-1827	CLIP-seq
MIRT2165760	hsa-miR-195	CLIP-seq
MIRT2165761	hsa-miR-3612	CLIP-seq
MIRT2165762	hsa-miR-3620	CLIP-seq
MIRT2165763	hsa-miR-3646	CLIP-seq
MIRT2165764	hsa-miR-3692	CLIP-seq
MIRT2165765	hsa-miR-424	CLIP-seq
MIRT2165766	hsa-miR-4254	CLIP-seq
MIRT2165767	hsa-miR-4279	CLIP-seq
MIRT2165768	hsa-miR-4308	CLIP-seq
MIRT2165769	hsa-miR-4323	CLIP-seq
MIRT2165770	hsa-miR-4436b-5p	CLIP-seq
MIRT2165771	hsa-miR-4443	CLIP-seq
MIRT2165772	hsa-miR-497	CLIP-seq
MIRT2165773	hsa-miR-650	CLIP-seq
MIRT2442999	hsa-miR-1323	CLIP-seq
MIRT2443000	hsa-miR-2467-5p	CLIP-seq
MIRT2443001	hsa-miR-490-3p	CLIP-seq
MIRT2443002	hsa-miR-548o	CLIP-seq
MIRT2443003	hsa-miR-619	CLIP-seq
MIRT2443004	hsa-miR-7	CLIP-seq
MIRT2442999	hsa-miR-1323	CLIP-seq
MIRT2443000	hsa-miR-2467-5p	CLIP-seq
MIRT2443001	hsa-miR-490-3p	CLIP-seq
MIRT2443002	hsa-miR-548o	CLIP-seq
MIRT2443003	hsa-miR-619	CLIP-seq
MIRT2443004	hsa-miR-7	CLIP-seq
MIRT2165753	hsa-miR-103a	CLIP-seq
MIRT2165754	hsa-miR-107	CLIP-seq
MIRT2468360	hsa-miR-1224-3p	CLIP-seq
MIRT2165755	hsa-miR-1228	CLIP-seq
MIRT2165756	hsa-miR-15a	CLIP-seq
MIRT2165757	hsa-miR-15b	CLIP-seq
MIRT2165758	hsa-miR-16	CLIP-seq
MIRT2165759	hsa-miR-1827	CLIP-seq
MIRT2165760	hsa-miR-195	CLIP-seq
MIRT2468361	hsa-miR-342-3p	CLIP-seq
MIRT2165761	hsa-miR-3612	CLIP-seq
MIRT2165762	hsa-miR-3620	CLIP-seq
MIRT2165764	hsa-miR-3692	CLIP-seq
MIRT2165765	hsa-miR-424	CLIP-seq
MIRT2165766	hsa-miR-4254	CLIP-seq
MIRT2468362	hsa-miR-4258	CLIP-seq
MIRT2165767	hsa-miR-4279	CLIP-seq
MIRT2468363	hsa-miR-4286	CLIP-seq
MIRT2165768	hsa-miR-4308	CLIP-seq
MIRT2165769	hsa-miR-4323	CLIP-seq
MIRT2165770	hsa-miR-4436b-5p	CLIP-seq
MIRT2165771	hsa-miR-4443	CLIP-seq
MIRT2468364	hsa-miR-4685-5p	CLIP-seq
MIRT2468365	hsa-miR-4768-5p	CLIP-seq
MIRT2165772	hsa-miR-497	CLIP-seq
MIRT2468366	hsa-miR-545	CLIP-seq
MIRT2468367	hsa-miR-642b	CLIP-seq
MIRT2165773	hsa-miR-650	CLIP-seq
MIRT2165753	hsa-miR-103a	CLIP-seq
MIRT2165754	hsa-miR-107	CLIP-seq
MIRT2468360	hsa-miR-1224-3p	CLIP-seq
MIRT2165755	hsa-miR-1228	CLIP-seq
MIRT2165756	hsa-miR-15a	CLIP-seq
MIRT2165757	hsa-miR-15b	CLIP-seq
MIRT2165758	hsa-miR-16	CLIP-seq
MIRT2165759	hsa-miR-1827	CLIP-seq
MIRT2165760	hsa-miR-195	CLIP-seq
MIRT2468361	hsa-miR-342-3p	CLIP-seq
MIRT2165761	hsa-miR-3612	CLIP-seq
MIRT2165762	hsa-miR-3620	CLIP-seq
MIRT2165764	hsa-miR-3692	CLIP-seq
MIRT2165765	hsa-miR-424	CLIP-seq
MIRT2165766	hsa-miR-4254	CLIP-seq
MIRT2468362	hsa-miR-4258	CLIP-seq
MIRT2165767	hsa-miR-4279	CLIP-seq
MIRT2468363	hsa-miR-4286	CLIP-seq
MIRT2165768	hsa-miR-4308	CLIP-seq
MIRT2165769	hsa-miR-4323	CLIP-seq
MIRT2165770	hsa-miR-4436b-5p	CLIP-seq
MIRT2165771	hsa-miR-4443	CLIP-seq
MIRT2468364	hsa-miR-4685-5p	CLIP-seq
MIRT2468365	hsa-miR-4768-5p	CLIP-seq
MIRT2165772	hsa-miR-497	CLIP-seq
MIRT2468366	hsa-miR-545	CLIP-seq
MIRT2468367	hsa-miR-642b	CLIP-seq
MIRT2165773	hsa-miR-650	CLIP-seq

Show/Hide all (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
GO:0005515	Function	Protein binding	IPI	20816094, 32320651, 33753518
GO:0005634	Component	Nucleus	IDA	21237683
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	16020546, 20816094
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	32320651
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0030425	Component	Dendrite	IDA	21237683
GO:0031966	Component	Mitochondrial membrane	IDA	16020546
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	20816094
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	NAS	32320651
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0051791	Process	Medium-chain fatty acid metabolic process	IDA	16020546
GO:0070991	Function	Medium-chain fatty acyl-CoA dehydrogenase activity	IDA	16020546

MIM	HGNC	e!Ensembl
611103	21497	ENSG00000177646

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
SNTMYSRLGEIISMDGSITVTLAAHQAIGLKGIILAGTEEQKAKYLPKLASGEHIAAFCL
TEPASGSDAASIRSRATLSEDKKHYILNGSKVWITNGGLANIFTVFAKTEVVDSDGSVKD
KITAFIVERDFGGVTNGKPEDKLGIRGSNTCEVHFENTKIPVENILGEVGDGFKVAMNIL
NSGRFSMGSVVAGLLKRLIEMTAEYACTRKQFNKRLSEFGLIQEKFALMAQKAYVMESMT
YLTAGMLDQPGFPDCSIEAAMVKVFSSEAAWQCVSEALQILGGLGYTRDYPYERILRDTR
ILLIFEGTNEILRMYIALTGLQHAGRILTTRIHELKQAKVSTVMDTVGRRLRDSLGRTVD
LGLTGNHGVVHPSLADSANKFEENTYCFGRTVETLLLRFGKTIMEEQLVLKRVANILINL
YGMTAVLSRASRSIRIGLRNHDHEVLLANTFCVEAYLQNLFSLSQLDKYAPENLDEQIKK
VSQQILEKRAYICAHPLDRTC

Sequence length

621

Interactions

View interactions

	Reactome
			Complex I biogenesis

362

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACAD9-related disorder	Likely pathogenic; Pathogenic	rs753711253, rs150283105	RCV004755828 RCV003391001
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 RCV005038202 RCV004570951 RCV002501999 RCV001780639 RCV003471008 RCV005023492 RCV003464236 RCV004571697 RCV003136403 RCV003470943 RCV003471169 RCV005025524 RCV003471074 RCV003464336 RCV004571866 RCV003470954 RCV003464225 RCV002290211 RCV005025784 RCV003233014 RCV003465977 RCV004571182 RCV003465804 RCV003464600 RCV003465865 RCV000779382 RCV001007946 RCV001782730 RCV001275866 RCV003469175 RCV003465889 RCV003225653 RCV003225654 RCV003225695 RCV003466575 RCV003466576 RCV003466581 RCV003466590 RCV003466594 RCV003466596 RCV003466597 RCV003466599 RCV003466602 RCV003466604 RCV003466605 RCV003466606 RCV003466607 RCV003466611 RCV003466616 RCV003466621 RCV003466623 RCV003466625 RCV003466626 RCV003466629 RCV003466630 RCV003466633 RCV003466634 RCV003466636 RCV003466638 RCV003466639 RCV003466641 RCV003466644 RCV003466647 RCV003466650 RCV003486299 RCV004573276 RCV004574716 RCV004573563 RCV004573689 RCV004573748 RCV004573789 RCV004573805 RCV004573815 RCV004573826 RCV004595292 RCV000412667 RCV001275864 RCV000023865 RCV000023866 RCV000023867 RCV000023868 RCV000023869 RCV001275865 RCV001834604 RCV003470662 RCV000778672 RCV000791055 RCV001007945 RCV002497421 RCV002471031 RCV001275867 RCV004570135 RCV001275863 RCV001089483 RCV001089484 RCV003469393
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 RCV002282085 RCV003317172 RCV002282084 RCV002229799 RCV003324169 RCV004765859 RCV003234917 RCV001582497 RCV001844016 RCV002282438
Possible mitochondrial disorder - nuclear genes	Likely pathogenic; Pathogenic	rs115532916	RCV005865087

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs863225057, rs863225056	-
Acute myeloid leukemia	Benign; Likely benign	rs139199002	RCV005903928
Cholangiocarcinoma	Benign	rs66521976	RCV005905646
Clear cell carcinoma of kidney	Uncertain significance	rs149931573	RCV005893479
Colon adenocarcinoma	Uncertain significance	rs149931573	RCV005893478
Gastric cancer	Uncertain significance; Benign	rs149931573, rs66521976	RCV005893480 RCV005905644
Malignant tumor of esophagus	Uncertain significance	rs756996267	RCV005923897
Ovarian serous cystadenocarcinoma	Uncertain significance	rs149931573	RCV005893481
Sarcoma	Benign; Likely benign	rs139199002	RCV005903929
See cases	Conflicting classifications of pathogenicity	rs141036010	RCV004584210
Thyroid cancer, nonmedullary, 1	Likely benign	rs2529257869	RCV005934854
Uterine carcinosarcoma	Benign	rs66521976	RCV005905645
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs139199002	RCV005903930

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Lactic	Associate	27483465, 30025539
Acyl CoA Dehydrogenase Family Member 9 Deficiency of	Inhibit	37240454
Cardiomegaly	Associate	26669660
Cardiomyopathies	Associate	17564966, 30025539, 37240454
Developmental Disabilities	Associate	30025539
Immune System Diseases	Inhibit	37388727
Immunologic Deficiency Syndromes	Associate	37388727
Liver Failure Acute	Associate	27483465
Lymphoma	Associate	37388727
Mitochondrial complex I deficiency	Associate	23836383, 26669660, 27483465, 29348607
Mitochondrial Diseases	Associate	26669660
Mitochondrial Encephalomyopathies	Associate	23836383
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Inhibit	17564966
Myopathy with Lactic Acidosis Hereditary	Associate	30025539
Optic Atrophy	Associate	26669660

ACAD9 (acyl-CoA dehydrogenase family member 9)