ACAA1 (acetyl-CoA acyltransferase 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 30
• Gene name: Acetyl-CoA acyltransferase 1
• Gene symbol: ACAA1
• Synonyms (NCBI Gene): ACAA, Lnc-Myd88, PTHIO, THIO
• Chromosome: 3
• Chromosome location: 3p22.2
• Summary: This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

miRNA Show/Hide all (63)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047559	hsa-miR-10a-5p	CLASH	23622248
MIRT036918	hsa-miR-877-3p	CLASH	23622248
MIRT728410	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT728411	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT728409	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1924480	hsa-miR-4312	CLIP-seq
MIRT1924481	hsa-miR-4715-3p	CLIP-seq
MIRT2165682	hsa-miR-1825	CLIP-seq
MIRT2165683	hsa-miR-219-1-3p	CLIP-seq
MIRT2165684	hsa-miR-23a	CLIP-seq
MIRT2165685	hsa-miR-23b	CLIP-seq
MIRT2165686	hsa-miR-23c	CLIP-seq
MIRT2165687	hsa-miR-3616-5p	CLIP-seq
MIRT2165688	hsa-miR-3647-5p	CLIP-seq
MIRT2165689	hsa-miR-4255	CLIP-seq
MIRT2165690	hsa-miR-4302	CLIP-seq
MIRT1924480	hsa-miR-4312	CLIP-seq
MIRT2165691	hsa-miR-4795-5p	CLIP-seq
MIRT2165692	hsa-miR-512-3p	CLIP-seq
MIRT2165693	hsa-miR-515-3p	CLIP-seq
MIRT2165694	hsa-miR-519e	CLIP-seq
MIRT2165695	hsa-miR-571	CLIP-seq
MIRT2165696	hsa-miR-573	CLIP-seq
MIRT2468204	hsa-miR-1273g	CLIP-seq
MIRT2165682	hsa-miR-1825	CLIP-seq
MIRT2468205	hsa-miR-2113	CLIP-seq
MIRT2468206	hsa-miR-3140-3p	CLIP-seq
MIRT1924480	hsa-miR-4312	CLIP-seq
MIRT2468207	hsa-miR-4446-5p	CLIP-seq
MIRT2468208	hsa-miR-4663	CLIP-seq
MIRT2468209	hsa-miR-4682	CLIP-seq
MIRT2468210	hsa-miR-4694-5p	CLIP-seq
MIRT1924481	hsa-miR-4715-3p	CLIP-seq
MIRT2165692	hsa-miR-512-3p	CLIP-seq
MIRT2468204	hsa-miR-1273g	CLIP-seq
MIRT2674163	hsa-miR-1286	CLIP-seq
MIRT2674164	hsa-miR-15a	CLIP-seq
MIRT2674165	hsa-miR-15b	CLIP-seq
MIRT2674166	hsa-miR-16	CLIP-seq
MIRT2165682	hsa-miR-1825	CLIP-seq
MIRT2674167	hsa-miR-195	CLIP-seq
MIRT2468205	hsa-miR-2113	CLIP-seq
MIRT2674168	hsa-miR-214	CLIP-seq
MIRT2674169	hsa-miR-2278	CLIP-seq
MIRT2674170	hsa-miR-3120-5p	CLIP-seq
MIRT2468206	hsa-miR-3140-3p	CLIP-seq
MIRT2674171	hsa-miR-3169	CLIP-seq
MIRT2674172	hsa-miR-346	CLIP-seq
MIRT2674173	hsa-miR-3619-5p	CLIP-seq
MIRT2674174	hsa-miR-424	CLIP-seq
MIRT2674175	hsa-miR-4288	CLIP-seq
MIRT1924480	hsa-miR-4312	CLIP-seq
MIRT2468207	hsa-miR-4446-5p	CLIP-seq
MIRT2674176	hsa-miR-4520a-5p	CLIP-seq
MIRT2674177	hsa-miR-4520b-5p	CLIP-seq
MIRT2468208	hsa-miR-4663	CLIP-seq
MIRT2468209	hsa-miR-4682	CLIP-seq
MIRT2468210	hsa-miR-4694-5p	CLIP-seq
MIRT1924481	hsa-miR-4715-3p	CLIP-seq
MIRT2674178	hsa-miR-497	CLIP-seq
MIRT2165692	hsa-miR-512-3p	CLIP-seq
MIRT2674179	hsa-miR-632	CLIP-seq
MIRT2674180	hsa-miR-761	CLIP-seq

Gene ontology (GO) Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IMP	2318981
GO:0003985	Function	Acetyl-CoA C-acetyltransferase activity	IEA
GO:0003988	Function	Acetyl-CoA C-acyltransferase activity	IBA
GO:0003988	Function	Acetyl-CoA C-acyltransferase activity	IEA
GO:0003988	Function	Acetyl-CoA C-acyltransferase activity	ISS
GO:0003988	Function	Acetyl-CoA C-acyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	18281296, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	22057399, 25538232
GO:0005777	Component	Peroxisome	IDA	1347505, 2365812, 2895531, 9053548, 17881773, 19479899
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IMP	2365812, 2882519
GO:0006635	Process	Fatty acid beta-oxidation	ISS
GO:0008206	Process	Bile acid metabolic process	IMP	2318981
GO:0008206	Process	Bile acid metabolic process	ISS
GO:0008775	Function	Acetate CoA-transferase activity	EXP	11734571
GO:0010124	Process	Phenylacetate catabolic process	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IEA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	TAS
GO:0035580	Component	Specific granule lumen	TAS
GO:0036109	Process	Alpha-linolenic acid metabolic process	TAS
GO:0050633	Function	Acetyl-CoA C-myristoyltransferase activity	IEA
GO:0050633	Function	Acetyl-CoA C-myristoyltransferase activity	ISS
GO:0120524	Function	Long-chain fatty acyl-CoA oxidase activity	IMP	2882519

Other IDs

• MIM: 604054
• HGNC: 82
• e!Ensembl: ENSG00000060971

Protein

• UniProt ID: P09110
• Protein name: 3-ketoacyl-CoA thiolase, peroxisomal (EC 2.3.1.16) (Acetyl-CoA C-myristoyltransferase) (EC 2.3.1.155) (Acetyl-CoA acyltransferase) (EC 2.3.1.9) (Beta-ketothiolase) (Peroxisomal 3-oxoacyl-CoA thiolase)
• Protein function: Responsible for the thiolytic cleavage of straight chain 3-keto fatty acyl-CoAs (3-oxoacyl-CoAs) (PubMed:11734571, PubMed:2882519). Plays an important role in fatty acid peroxisomal beta-oxidation (PubMed:11734571, PubMed:2882519). Catalyzes the
• PDB: 2IIK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00108	Thiolase_N	38 → 291	Thiolase, N-terminal domain	Domain
  PF02803	Thiolase_C	298 → 421	Thiolase, C-terminal domain	Domain

• Sequence:

  MQRLQVVLGHLRGPADSGWMPQAAPCLSGAPQASAADVVVVHGRRTAICRAGRGGFKDTT
  PDELLSAVMTAVLKDVNLRPEQLGDICVGNVLQPGAGAIMARIAQFLSDIPETVPLSTVN
  RQCSSGLQAVASIAGGIRNGSYDIGMACGVESMSLADRGNPGNITSRLMEKEKARDCLIP
  MGITSENVAERFGISREKQDTFALASQQKAARAQSKGCFQAEIVPVTTTVHDDKGTKRSI
  TVTQDEGIRPSTTMEGLAKLKPAFKKDGSTTAGNSSQVSDGAAAILLARRSKAEELGLPI
  LGVLRSYAVVGVPPDIMGIGPAYAIPVALQKAGLTVSDVDIFEINEAFASQAAYCVEKLR
  LPPEKVNPLGGAVALGHPLGCTGARQVITLLNELKRRGKRAYGVVSMCIGTGMGAAAVFE
  YPGN

• Sequence length: 424

Pathways

KEGG Pathway	Reactome Pathway
Fatty acid degradation	alpha-linolenic acid (ALA) metabolism
Valine, leucine and isoleucine degradation	Beta-oxidation of very long chain fatty acids
alpha-Linolenic acid metabolism	Neutrophil degranulation
Biosynthesis of unsaturated fatty acids	Peroxisomal protein import
Metabolic pathways
Fatty acid metabolism
PPAR signaling pathway
Peroxisome

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ACAA1-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (17)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	3469675		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	22151743, 22192168	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22151743		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30793530	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	20664904		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	22151743		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	33132321	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24154872		★☆☆☆☆ Found in Text Mining only
Deficiency of acetyl-CoA acetyltransferase	Deficiency Of Acetyl-CoA Acetyltransferase	BEFREE	11161836, 24706027, 25231369, 28220263		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18602895		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26189812	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	32728162	Associate	★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	16950638		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25768320		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	30176945	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	23028900		★☆☆☆☆ Found in Text Mining only
Zellweger Spectrum	Zellweger Syndrome	BEFREE	23459139		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ACOX1 9 shared pathwaysFatty acid degradation, alpha-Linolenic acid metabolism, Biosynthesis of unsaturated fatty acids, Fatty acid metabolism, PPAR signaling pathway, Peroxisome, alpha-linolenic acid (ALA) metabolism, Beta-oxidation of very long chain fatty acids, Peroxisomal protein import Related via 9 shared pathways including Fatty acid degradation, alpha-Linolenic acid metabolism. EHHADH 7 shared pathwaysFatty acid degradation, Valine, leucine and isoleucine degradation, Fatty acid metabolism, PPAR signaling pathway, Peroxisome, Beta-oxidation of very long chain fatty acids, Peroxisomal protein import Related via 7 shared pathways including Fatty acid degradation, Valine, leucine and isoleucine degradation. HSD17B4 6 shared pathwaysBiosynthesis of unsaturated fatty acids, Fatty acid metabolism, Peroxisome, alpha-linolenic acid (ALA) metabolism, Beta-oxidation of very long chain fatty acids, Peroxisomal protein import Related via 6 shared pathways including Biosynthesis of unsaturated fatty acids, Fatty acid metabolism. SCP2 6 shared pathwaysBiosynthesis of unsaturated fatty acids, Fatty acid metabolism, PPAR signaling pathway, Peroxisome, alpha-linolenic acid (ALA) metabolism, Peroxisomal protein import Related via 6 shared pathways including Biosynthesis of unsaturated fatty acids, Fatty acid metabolism. FADS2 5 shared pathwaysalpha-Linolenic acid metabolism, Biosynthesis of unsaturated fatty acids, Fatty acid metabolism, PPAR signaling pathway, alpha-linolenic acid (ALA) metabolism Related via 5 shared pathways including alpha-Linolenic acid metabolism, Biosynthesis of unsaturated fatty acids.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ACOX1	0	[]	9	["Fatty acid degradation","alpha-Linolenic acid metabolism","Biosynthesis of unsaturated fatty acids","Fatty acid metabolism","PPAR signaling pathway","Peroxisome","alpha-linolenic acid (ALA) metabolism","Beta-oxidation of very long chain fatty acids","Peroxisomal protein import"]	0	[]
EHHADH	0	[]	7	["Fatty acid degradation","Valine, leucine and isoleucine degradation","Fatty acid metabolism","PPAR signaling pathway","Peroxisome","Beta-oxidation of very long chain fatty acids","Peroxisomal protein import"]	0	[]
HSD17B4	0	[]	6	["Biosynthesis of unsaturated fatty acids","Fatty acid metabolism","Peroxisome","alpha-linolenic acid (ALA) metabolism","Beta-oxidation of very long chain fatty acids","Peroxisomal protein import"]	0	[]
SCP2	0	[]	6	["Biosynthesis of unsaturated fatty acids","Fatty acid metabolism","PPAR signaling pathway","Peroxisome","alpha-linolenic acid (ALA) metabolism","Peroxisomal protein import"]	0	[]
FADS2	0	[]	5	["alpha-Linolenic acid metabolism","Biosynthesis of unsaturated fatty acids","Fatty acid metabolism","PPAR signaling pathway","alpha-linolenic acid (ALA) metabolism"]	0	[]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 3 of 5 related genesACOX1, EHHADH, FADS2 Bifunctional enzyme deficiency Linked via 2 of 5 related genesEHHADH, HSD17B4 Bipolar disorder Linked via 2 of 5 related genesEHHADH, FADS2 Major depressive disorder Linked via 2 of 5 related genesHSD17B4, FADS2 Hepatocellular carcinoma Linked via 1 of 5 related genesACOX1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	3	["ACOX1","EHHADH","FADS2"]
Bifunctional enzyme deficiency	2	["EHHADH","HSD17B4"]
Bipolar disorder	2	["EHHADH","FADS2"]
Major depressive disorder	2	["HSD17B4","FADS2"]
Hepatocellular carcinoma	1	["ACOX1"]