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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACAA1 Gene

protein-coding GIFtS: 63
GCID: GC03M038164

acetyl-CoA acyltransferase 1

(Previous name: acetyl-Coenzyme A acyltransferase 1 )

Explore 24 diseases affiliated with
ACAA1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Acetyl-CoA Acyltransferase 1¹ ²		THIO²
Acetyl-Coenzyme A Acyltransferase 1¹ ²		Beta-Ketothiolase¹
Peroxisomal 3-Oxoacyl-CoA Thiolase² ³		Peroxisomal 3-Oxoacyl-Coenzyme A Thiolase²
ACAA² ³		Beta-Ketothiolase¹
PTHIO² ³		Acetyl-CoA Acyltransferase³
EC 2.3.1.16³ ⁸		EC 2.3.1⁸
3-Ketoacyl-CoA Thiolase, Peroxisomal²

External Ids:	HGNC: 82¹	Entrez Gene: 30²	Ensembl: ENSG00000060971⁷	OMIM: 604054⁵	UniProtKB: P09110³

ORGUL members:
	NONCODE:n406516

Export aliases for ACAA1 gene to outside databases

Previous GC identifers: GC03M037452 GC03M037977 GC03M038124 GC03M038139

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACAA1:

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)

Gene Wiki entry for ACAA1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACAA1 gene promoter:
c-Fos STAT1 AP-1 STAT1beta IRF-1 STAT1alpha PPAR-gamma1 STAT3 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACAA1 promoter sequence

Search SABiosciences Chromatin IP Primers for ACAA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACAA1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p22.2 Ensembl cytogenetic band: 3p22.2 HGNC cytogenetic band: 3p22.2

ACAA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACAA1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M038164: view genomic region (about GC identifiers)

Start:	38,164,201 bp from pter	End:	38,178,733 bp from pter
Size:	14,533 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: THIK_HUMAN, P09110 (See protein sequence)

Recommended Name: 3-ketoacyl-CoA thiolase, peroxisomal precursor

Size: 424 amino acids; 44292 Da

Subunit: Homodimer

Subcellular location: Peroxisome

1 PDB 3D structure from and Proteopedia for ACAA1:

2IIK (3D)

Secondary accessions: G5E935 Q96CA6

Alternative splicing: 2 isoforms: P09110-1 P09110-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACAA1: NX_P09110

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P09110

4/16 DME Specific Peptides for ACAA1 (P09110) (see all 16)

RGGFKDT

GLPILGV

PAFKKDG

GSTTAGN

ACAA1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001123882.1 NP_001598.1

ENSEMBL proteins:

ENSP00000333664 ENSP00000301810 ENSP00000414021 ENSP00000395183 ENSP00000391078

ENSP00000398172 ENSP00000389226 ENSP00000396485 ENSP00000405785 ENSP00000403124

ENSP00000445710 ENSP00000391918

Reactome Protein details: P09110
Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for ACAA1
	Uscn Proteins for ACAA1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005777	peroxisome	IDA	1347505
GO:0005782	peroxisomal matrix	TAS	--
GO:0043231	intracellular membrane-bounded organelle	IDA	--

ACAA1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACAA1 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR002155 Thiolase

IPR020610 Thiolase_AS

IPR020616 Thiolase_N

IPR020617 Thiolase_C

IPR020613 Thiolase_CS

Graphical View of Domain Structure for InterPro Entry P09110

ProtoNet protein and cluster: P09110

1 Blocks protein family: IPB002155 Thiolase

UniProtKB/Swiss-Prot: THIK_HUMAN, P09110

Similarity: Belongs to the thiolase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: THIK_HUMAN, P09110

Catalytic activity: Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA

Induction: Peroxisomal thiolase is markedly induced (at the level of transcription) by various hypolipidemic compounds

in parallel with the other two enzymes of the peroxisomal beta-oxidation system

Genatlas biochemistry entry for ACAA1:

acetyl-CoA acyltransferase,(peroxisomal matrix 3-oxoacyl-CoA thiolase),medium or long chain,catalyzing the fourth step

of fatty acid beta-oxidation,expressed

Enzyme Numbers (IUBMB): EC 2.3.1.16¹ ² EC 2.3.1²

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAA1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003988	acetyl-CoA C-acyltransferase activity	IEA	--
GO:0005515	protein binding	IPI	18281296
GO:0016401	palmitoyl-CoA oxidase activity	IMP	2882519
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups	--	--

ACAA1 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for ACAA1:

Decreased Wnt reporter activit

Increased number of cells in m

Wnt reporter downregulated

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

alpha-linolenic (omega3) and linoleic (omega6) acid metabolism

	alpha-linolenic (omega3) and linoleic (omega6) acid metabolism	1.00			Beta-oxidation of very long chain fatty acids	0.42
	alpha-linolenic acid (ALA) metabolism	1.00

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

ketolysis

ketolysis

1.00

ketogenesis

0.57

tryptophan degradation III (eukaryotic)

tryptophan degradation III (eukaryotic)

1.00

glutaryl-CoA degradation

0.45

superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)

superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)

1.00

mevalonate pathway I

0.86

Pathway sources
See GeneCards unified pathways
Show all pathways

5/8 BioSystems Pathways for ACAA1 (see all 8)

	glutaryl-CoA degradation
	ketogenesis
	fatty acid beta-oxidation I
	ketolysis
	superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)

5/6 Reactome Pathways for ACAA1 (see all 6)

	Beta-oxidation of very long chain fatty acids
	Metabolism
	Peroxisomal lipid metabolism
	alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
	alpha-linolenic acid (ALA) metabolism

5/6 Kegg Pathways (Kegg details for ACAA1) (see all 6):

	Fatty acid metabolism
	Valine, leucine and isoleucine degradation
	Biosynthesis of unsaturated fatty acids
	Metabolic pathways
	PPAR signaling pathway

UniProtKB/Swiss-Prot: THIK_HUMAN, P09110

Pathway: Lipid metabolism; fatty acid metabolism

ACAA1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ACAA1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/74 Interacting proteins for ACAA1 (P09110³ ENSP00000333664⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 74)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACOX1	Q15067³, ENSP00000293217⁴	I2D: score=1 STRING: ENSP00000293217
HMGCS1	Q01581³, ENSP00000322706⁴	I2D: score=1 STRING: ENSP00000322706
OXSM	Q9NWU1³, ENSP00000280701⁴	I2D: score=1 STRING: ENSP00000280701
HSD17B4	P51659³, ENSP00000256216⁴	I2D: score=1 STRING: ENSP00000256216
ACSS1	Q9NUB1³, ENSP00000316924⁴	I2D: score=1 STRING: ENSP00000316924

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000038	very long-chain fatty acid metabolic process	IMP	2318981
GO:0006635	fatty acid beta-oxidation	IMP	2365812
GO:0008206	bile acid metabolic process	IMP	2318981
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	--
GO:0033559	unsaturated fatty acid metabolic process	TAS	--

ACAA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACAA1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACAA1

10/58 HMDB Compounds for ACAA1 (see all 58) About this table

Compound	Synonyms	CAS #	PubMed Ids
(2E)-Decenoyl-CoA	(E)-S-2-decenoate Coenzyme A (see all 15)	10018-95-8	--
(2E)-Dodecenoyl-CoA	2-trans-Dodecenoyl-Coenzyme A (see all 4)	1066-12-2	--
(2E)-Hexadecenoyl-CoA	trans-2-Hexadecenoyl-CoA (see all 4)	4460-95-1	--
(2E)-Octenoyl-CoA	(E)-S-2-octenoate Coenzyme A (see all 16)	10018-94-7	--
(2E)-Tetradecenoyl-CoA	(2E)-Tetradecenoyl-Coenzyme A (see all 8)	38795-33-4	--
2-Methylacetoacetyl-CoA	2-Methyl-3-acetoacetyl-CoA (see all 10)	6712-01-2	--
2-Methylbutyryl-CoA	2-methylbutanoyl-CoA (see all 11)	6712-02-3	--
2-Methylhexanoyl-CoA	2-Methylhexanoyl-CoEnzyme A (see all 5)	--	--
3-Methylcrotonyl-CoA	3-Methylbut-2-enoyl-CoA (see all 14)	793193-48-3	--
3-Oxodecanoyl-CoA	3-Ketodecanoyl-CoA (see all 3)	50411-91-1	--

3 Novoseek chemical compound relationships for ACAA1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
3-oxoacyl-coa	98	8	7750978 (2), 2365812 (1), 1618493 (1), 1347505 (1) (see all 6)
acaa	91.5	6	7750978 (3), 1679347 (2)
phytanic acid	80.3	1	1618493 (1)

Search CenterWatch for drugs/clinical trials and news about ACAA1 / THIK

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACAA1 gene (2 alternative transcripts):

NM_001130410.1 NM_001607.3

Unigene Cluster for ACAA1:

Acetyl-CoA acyltransferase 1

Hs.643487 [show with all ESTs]

Unigene Representative Sequence: NR_024024

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000333167(uc003cht.3) ENST00000301810(uc003chu.3) ENST00000411549

ENST00000469559 ENST00000480865 ENST00000450296 ENST00000452171 ENST00000469600

ENST00000421218 ENST00000440176 ENST00000423611 ENST00000447223 ENST00000418880

ENST00000465181 ENST00000484284 ENST00000460424 ENST00000489559 ENST00000544624

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Additional cDNA sequence:

AF035295.1 AK025138.1 AK293716.1 AK301056.1 AK303251.1 AK316551.1 BC000635.2 BC011977.1

BC014474.1 BC025780.1 BC039837.1 NR_024024.1 X12966.1 X14813.1 X51460.1

24/31 DOTS entries (see all 31):

DT.100761131 DT.455613 DT.75133679 DT.95212056 DT.120879253 DT.100879788 DT.120879302 DT.40133698

DT.100879797 DT.100879782 DT.100879794 DT.100879790 DT.100879791 DT.120879268 DT.91788008 DT.95212159

DT.100879784 DT.100879799 DT.120879221 DT.100835021 DT.100836531 DT.100879786 DT.120879231 DT.120879271

24/488 AceView cDNA sequences (see all 488):

BU615780 CR610125 CR625245 CA450195 CB138234 CR626521 CB130065 CK819683

CB135642 CR607231 BQ183739 BC025780 BM743780 BE893118 CB141251 AW403625

BM923993 CB148816 CR626439 CR612814 CB155801 BI859522 BM744815 CR594169

GeneLoc Exon Structure

5/19 Alternative Splicing Database (ASD) splice patterns (SP) for ACAA1 (see all 19) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7	^	8	^	9	^	10a	·	10b	^	11a	·	11b	·	11c	^	12a	·	12b	·	12c	^	13	^
SP1:																	-		-		-				-		-		-														-								-
SP2:																	-				-				-		-		-
SP3:																	-		-		-				-		-		-														-
SP4:																	-		-		-				-		-		-						-		-						-								-
SP5:																	-		-		-				-		-		-				-										-

ExUns:	14a	·	14b	·	14c	^	15	^	16a	·	16b	^	17a	·	17b	·	17c	·	17d
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ACAA1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACAA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See ACAA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACAA1

SOURCE GeneReport for Unigene cluster: Hs.643487

SABiosciences Expression via Pathway-Focused PCR Arrays including ACAA1:

Fatty Acid Metabolism in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACAA1 gene from 7/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Acaa1a^{1 , 5}	acetyl-Coenzyme A acyltransferase 1A^{1, 5}	85.06(n)¹ 85.61(a)¹		9 (71.33 cM)⁵ 113868¹ NM_130864.3¹ NP_570934.1¹ 119339676⁵
chicken (Gallus gallus)	Aves	ACAA1¹	acetyl-CoA acyltransferase 1	74.51(n) 80.29(a)		770094 NM_001197288.1 NP_001184217.1
lizard (Anolis carolinensis)	Reptilia	ACAA1⁶	--	77(a)	1 ↔ 1	6(1012911-1024662)
African clawed frog (Xenopus laevis)	Amphibia	acaa1-prov²	acetyl-Coenzyme A acyltransferase 1	77.19(n)		BC054299.1
zebrafish (Danio rerio)	Actinopterygii	acaa1¹	acetyl-Coenzyme A acyltransferase 1	66.67(n) 73.14(a)		431754 NM_001002207.1 NP_001002207.1
thale cress (Arabidopsis thaliana)	eudicotyledons	PKT4¹	acetyl-CoA acyltransferase 1	57.66(n) 57.58(a)		839434 NM_100351.4 NP_171965.1
rice (Oryza sativa)	Liliopsida	AK072460.1²	--	74.97(n)		AK072460.1

ENSEMBL Gene Tree for ACAA1 (if available)
TreeFam Gene Tree for ACAA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ACAA1 gene

HADHB²

4 SIMAP similar genes for ACAA1 using alignment to 8 protein entries: THIK_HUMAN (see all proteins):

ACAT2 ACAA2 ACAT1 HADHB

ACAA1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs182295445^1,2		--	38164130(+)	`CCACAC/TTGAGA`	5	--	ut3¹ int¹		0	--	--	--	--
rs186909559^1,2		--	38164155(+)	`ATAGCA/GAAGAC`	5	--	ut3¹ int¹		0	--	--	--	--
rs148173184^1,2		--	38164190(+)	`AAAAA-/CCCCACA`	5	--	ut3¹ int¹		0	--	--	--	--
rs141302474^1,2		--	38164326(+)	`AGCTAA/GAGAGG`	5	--	ds500¹ ut3¹ nc-transcript-variant		0	--	--	--	--
rs2229529^1,2	C,F,H,	--	38164562(-)	`GCTGCC/TGTCTT`	7	A	syn¹ ds500¹		8		EA NS WA NA EU	6653
rs145732427^1,2	C,F,	--	38164568(+)	`GCAGCG/AGCTCC`	7	/A	ds500¹ nc-transcript-variantsyn¹		2		NA EU	5875
rs148896847^1,2	C,	--	38164585(+)	`AGTCCC/TGATGC`	7	R G	ds500¹ nc-transcript-variantmis¹		1		NA	4552
rs182939941^1,2	C,	--	38164642(+)	`CTGGGA/CAAAGG`	5	--	int¹ ds500¹		0	--	--	--	--
rs148925787^1,2		--	38164668(+)	`CTCCAA/GACCAG`	5	--	ds500¹ int¹		0	--	--	--	--
rs143201921^1,2		--	38164887(+)	`CCTCCC/TCAGGG`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ACAA1 (38164201 - 38178733 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACAA1: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ACAA1 for disorders           About GeneDecksing

OMIM gene information: 604054    OMIM disorders: --

20/24 diseases for ACAA1 (see all 24):    About MalaCards

pseudo-zellweger syndrome zellweger syndrome peroxisomal biogenesis disorder peroxisome biogenesis disorders

beta-ketothiolase deficiency chondrodysplasia punctata rhizomelic chondrodysplasia punctata end stage renal failure

infantile refsum disease thiolase deficiency chondrodysplasia ketothiolase deficiency

refsum disease chronic lymphocytic leukemia lymphocytic leukemia adrenoleukodystrophy

dermatomyositis meningioma leukemia prostate cancer

3 diseases from the University of Copenhagen DISEASES database for ACAA1:

Zellweger syndrome Rhizomelic chondrodysplasia punctata Refsum disease

1 Novoseek disease relationship for ACAA1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
chondrodysplasia punctata	87.3	1	1347505 (1)

Genatlas disease: ACAA1

pseudo Zellweger syndrome with abundant peroxisomes and normal plasmalogen biosynthesis (ACAA deficiency)

Genetic Association Database (GAD): ACAA1
Human Genome Epidemiology (HuGE) Navigator: ACAA1 (11 documents)

Export disorders for ACAA1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ACAA1 gene, integrated from 9 sources (see all 39):
(articles sorted by number of sources associating them with ACAA1)

Utopia: connect your pdf to the dynamic
world of online information

Characterization of the gene encoding human peroxisomal 3-oxoacyl-CoA thiolase (ACAA). No large DNA rearrangement in a thiolase-deficient patient. (PubMed id 1679347)^{1, 2, 9} Bout A.... Benne R. (1991)
Polymorphism of the ACE Gene in dialysis patients: overexpression of DD genotype in type 2 diabetic end-stage renal failure patients. (PubMed id 16385653)^{1, 4} Park H.C....Ha S.K. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Angiotensin-converting enzyme genotype and the ventilatory response to exertional hypoxia. (PubMed id 14621081)^{1, 4} Patel S....Peacock A.J. (2003)
Complete cDNA sequence of human foetal liver peroxisomal 3-oxoacyl- CoA thiolase. (PubMed id 2726492)^{1, 2} Fairbairn L.J. and Tanner M.J.A. (1989)
Nucleotide sequence of human peroxisomal 3-oxoacyl-CoA thiolase. (PubMed id 3194209)^{1, 2} Bout A.... Tager J.M. (1988)
Refined localization of human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to 3p22. (PubMed id 7750978)^{1, 9} Ottone F....Tenchini M.L. (1995)
Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. (PubMed id 2318981)^{1, 9} Clayton P.T....Collins J. (1990)
Differential gene regulation in human versus rodent hepatocytes by peroxisome proliferator-activated receptor (PPAR) alpha. PPAR alpha fails to induce peroxisome proliferation-associated genes in human cells independently of the level of receptor expresson. (PubMed id 11418601)^{1, 9} Lawrence J.W....Zhou G. (2001)
Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts. (PubMed id 1347505)^{1, 9} Heikoop J.C....Tager J.M. (1992)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 30	HGNC: 82	AceView: ACAA1	Ensembl:ENSG00000060971	euGenes: HUgn30
ECgene: ACAA1	Kegg: 30	H-InvDB: ACAA1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ACAA1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ACAA1 gene
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Patent Information for ACAA1 gene:
Search GeneIP for patents involving ACAA1

GeneCards and IP:
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ACAA1 Gene

acetyl-CoA acyltransferase 1

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ACAA1 Gene

acetyl-CoA acyltransferase 1

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