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ACAA1 - acetyl-CoA acyltransferase 1 Gene

Also Known as ACAA; THIO; PTHIO; Lnc-Myd88

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 30

About ACAA1

Cytogenetic location: 3p22.2 Genomic coordinates (GRCh38): 3:38,122,715-38,137,127 (from NCBI)

This gene has 18 transcripts (splice variants), 212 orthologues and 4 paralogues. Broad expression in liver (RPKM 125.0), kidney (RPKM 97.3) and 24 other tissues.

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]

ACAA1 Products (2)

mRNA	Protein	Name
NM_001130410.2	NP_001123882.1	3-ketoacyl-CoA thiolase, peroxisomal isoform b
NM_001607.4	NP_001598.1	3-ketoacyl-CoA thiolase, peroxisomal isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acetate CoA-transferase activity	EXP EXP: Inferred from Experiment	11734571	GOA
enables palmitoyl-CoA oxidase activity	IMP IMP: Inferred from mutant phenotype	2882519	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18281296	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in bile acid metabolic process	IMP IMP: Inferred from mutant phenotype	2318981	GOA
involved in fatty acid beta-oxidation	IMP IMP: Inferred from mutant phenotype	2365812	GOA
involved in very long-chain fatty acid metabolic process	IMP IMP: Inferred from mutant phenotype	2318981	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in peroxisome	IDA IDA: Inferred from direct assay	22057399	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	1347505	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACAA1 Protein Structure

Thiolase_N

Thiolase_C

0
100
200
300
400
424 a.a.

Protein Preferred Names	Protein Names
3-ketoacyl-CoA thiolase, peroxisomal	acetyl-CoA C-myristoyltransferase

ACAA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ACAA1	P09110	FEM1A	Homo sapiens	Q9BSK4	Y2H Prey Pooling	32296183
Intra	ACAA1	P09110	FEM1A	Homo sapiens	Q9BSK4	Y2H Array	32296183
Intra	ACAA1	P09110	FEM1A	Homo sapiens	Q9BSK4	Validated Y2H	32296183
Intra	ACAA1	P09110	TFCP2	Homo sapiens	Q12800	Validated Y2H	32296183
Intra	ACAA1	P09110	TFCP2	Homo sapiens	Q12800	Y2H Array	32296183
Intra	ACAA1	P09110	TFCP2	Homo sapiens	Q12800	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ACAA1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75558	ACAA1 Protein, Human (sf9, His)	P09110 (L27-N424)	≥ 95%, as determined by reducing SDS-PAGE.

ACAA1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84025	ACAA1 Antibody (YA3722)	WB, IHC-P, FC, ELISA	Human, Mouse
HY-P84025A	ACAA1 Antibody (YA3722)(PBS only)	WB, IHC-P, FC, ELISA	Human, Mouse

Related Diseases

Diseases	Alias
Chondrodysplasia Punctata Syndrome	Chondrodysplasia Punctata Chondrodysplasia Punctata Congenita Toriello Higgins Miller Syndrome Chondrodysplasia Punctata, Toriello Type Toriello-Higgins-Miller Syndrome Cdp Chondrodysplasia Punctata, X-Linked Dominant Type Chondrodysplasia Punctata Group Dysplasia Punctata Epiphysis Dysplasia Punctata Dysplasia Epiphysealis Punctata Chondrodystrophy Of Punctata
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Alpha-Methylacetoacetic Aciduria	Beta-Ketothiolase Deficiency 3-Ketothiolase Deficiency 3-Oxothiolase Deficiency Mitochondrial Acetoacetyl-Coa Thiolase Deficiency Alpha-Methylacetoaceticaciduria Mat Deficiency T2 Deficiency 2-Methyl-3-Hydroxybutyricacidemia Beta Ketothiolase Deficiency Pseudo-Zellweger Syndrome 2-Methyl-3-Hydroxybutyric Acidemia 3-Ktd Deficiency Peroxisomal Thiolase Deficiency 2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency 3-Alpha-Oxothiolase Deficiency Methylacetoacetyl-Coenzyme A Thiolase Deficiency Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated Β-Ketothiolase Deficiency Alpha Methylacetoacetic Aciduria Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency 3KTD Aciduria, Alpha-Methylacetoacetic Deficiency Of Acetyl-Coa Acetyltransferase Deficiency Of Acetyl-Coa Acyltransferase Hepatic Methionine Adenosyltransferase Deficiency Bifunctional Peroxisomal Enzyme Deficiency
Anterior Cerebral Artery Infarction	Infarction, Anterior Cerebral Artery
Basilar Artery Occlusion
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Refsum Disease, Classic	Refsum Disease Heredopathia Atactica Polyneuritiformis Phytanic Acid Oxidase Deficiency Hmsn Iv Refsum Disease, Adult, 1 Refsum'S Disease Phytanic Acid Storage Disease Hereditary Motor And Sensory Neuropathy Iv Hmsn4 Hmsn Type Iv Hmsn 4 Adult Refsum Disease Classic Refsum Disease Hereditary Motor And Sensory Neuropathy Type Iv Refsum Syndrome Hsmn Iv Disorder Of Cornification 11 Doc 11 Hereditary Sensory And Motor Neuropathy Type 4 Hypertrophic Neuropathy Of Refsum Ard Crd Hereditary Motor And Sensory Neuropathy Type 4 Phytanic-Coa Hydroxylase Deficiency RD
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00117	ACAA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ACAA1	VGNC	VGNC:68641
Rattus norvegicus	ACAA1	RGD	RGD:67379
Canis familiaris	ACAA1	VGNC	VGNC:37488
Bos taurus	ACAA1	VGNC	VGNC:25517
Macaca mulatta	ACAA1	VGNC	VGNC:69590
Others	ACAA1	NCBI