V3 here soon-try beta now


Gene Search (GeneCards Home)	\|	GeneCards Guide	\|	User Feedback	\|	Terms of Use	\|	Notice about third-party sites

ACACA Gene

protein-coding GIFtS: 71

GC17M032516

acetyl-Coenzyme A carboxylase alpha
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: ACAC, ACC)

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

Aliases
ACAC ^², ³, ⁵
ACC ^²
ACC-alpha ^², ³
ACC1 ^¹, ², ³, ⁵
ACCA ^², ³
EC 6.4.1.2 ^³
OTTHUMP00000164069 ^²

Descriptions
acetyl-CoA carboxylase 1 ^²
acetyl-CoA carboxylase-alpha ^²
acetyl-Coenzyme A carboxylase alpha ^²

External Ids
HGNC: 84¹
Entrez Gene: 31²
UniProtKB: Q13085³
Ensembl: ENSG00000132142⁷

Search outside databases for aliases for ACACA gene

Previous GC identifers: GC17M034828 GC17M037396 GC17M035173 GC17M035639 GC17M035637

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

EntrezGene summary for ACACA:

Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing

enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in

fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes.

ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the

transcriptional and translational levels and under short term regulation by the

phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by

citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the

5' sequence and encoding distinct isoforms have been found for this gene. [provided by

RefSeq]

UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085

Function: Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. Carries

out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ACACA gene

Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q12 HGNC cytogenetic band: 17q21

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

GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M032516: (about GC identifiers)

Start:	32,516,036 bp from pter
End:	32,841,015 bp from pter
Size:	324,980 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000017.9 NT_078100.1

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085 (See protein sequence)

Recommended Name: Acetyl-CoA carboxylase 1

Size: 2346 amino acids; 265554 Da

Cofactor: Biotin

Cofactor: Binds 2 manganese ions per subunit

Subunit: Interacts in its inactive phosphorylated form with the BRCT domains of BRCA1 which

prevents ACACA dephosphorylation and inhibits lipid synthesis

Subcellular location: Cytoplasm

Secondary accessions: B2RP68 Q6KEV6 Q6XDA8 Q7Z2G8 Q7Z561 Q7Z563 Q7Z564 Q86WB2 Q86WB3

Alternative promoter usage: 4 isoforms: Q13085-1 Q13085-2 Q13085-3 Q13085-4

Post-translational modifications:

Phosphorylation on Ser-1263 is required for interaction with BRCA1¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (5 alternative transcripts):

NP_942131.1 NP_942133.1 NP_942134.1 NP_942135.1 NP_942136.1

ENSEMBL proteins:

ENSP00000377925 ENSP00000335323 ENSP00000377928 ENSP00000354565 ENSP00000353898 ENSP00000377929

ENSP00000344789

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Acetyl Coenzyme A Carboxylase, Acetyl Coenzyme A carboxylase alpha)
	Human Recombinant Proteins from Abnova (ACACA)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--

About this table

Antibodies for ACACA:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of ACACA
	Sigma-Aldrich Antibodies for ACACA
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for ACACA (Acetyl-CoA carboxylase alpha)
	Antibodies from Abcam (Acetyl Coenzyme A Carboxylase, Acetyl Coenzyme A carboxylase alpha), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ACACA)
	Novus Biologicals Antibodies for ACACA

Assays for ACACA:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry Q13085

ProtoNet protein and cluster: Q13085

2 Blocks protein families:

IPB001882 Biotin-requiring enzyme

IPB013537 Acetyl-CoA carboxylase

UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085

Similarity: Contains 1 ATP-grasp domain

Similarity: Contains 1 biotin carboxylation domain

Similarity: Contains 1 biotinyl-binding domain

Similarity: Contains 1 carboxyltransferase domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ACACA)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ACACA)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6): NM_000664

Applied Biosystems Silencer® siRNAs for ACACA

Sigma-Aldrich siRNA and siRNA Panels for ACACA

Sigma-Aldrich shRNA for ACACA

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_198834
Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_198834
untagged cDNA clones in CMV expression vector (see all 5): NM_198834

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_198834

UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085

Function: Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. Carries

out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase

Catalytic activity: ATP + acetyl-CoA + HCO(3)(-) = ADP + phosphate + malonyl-CoA

Catalytic activity: ATP + biotin-carboxyl-carrier protein + CO(2) = ADP + phosphate +

carboxybiotin-carboxyl-carrier protein

Enzyme regulation: By phosphorylation (By similarity)

Enzyme Number (IUBMB): EC 6.4.1.2

Genatlas biochemistry entry for ACACA:

acetyl-CoA carboxylase alpha,265kDa,biotine dependent,expressed in lipogenic

tissues,cytosolic,catalyzing the synthesis of malonyl-CoA,an intermediate substrate playing a

pivotal role in the regulation of fatty acid metabolism

5 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Acaca):

embryogenesis

growth/size

homeostasis/metabolism

lethality-prenatal/perinatal

liver/biliary system

5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003989	acetyl-CoA carboxylase activity	TAS	7905825
GO:0004075	biotin carboxylase activity	IEA	--
GO:0005515	protein binding	IPI	16326698
GO:0005524	ATP binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5 Sigma-Aldrich "Your Favorite Gene" Pathways for ACACA (Your Favorite Gene powered by Ingenuity)

Pyruvate Metabolism
Fatty Acid Biosynthesis
TR/RXR Activation
LXR/RXR Activation
Propanoate Metabolism

GeneDecks ACACA for the pathways selected above

About GeneDecksing

UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085

Pathway: Lipid metabolism; malonyl-CoA biosynthesis; malonyl-CoA from acetyl-CoA: step 1/1

Gene Network Central^TM Interacting Genes and Proteins Network for ACACA

5/35 Interacting proteins for ACACA (ENSP00000344789³ Q13085^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 35 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BRCA1	P38398¹	STRING (score=.98) EBI-717681, EBI-349905
AKR1B10	O60218¹	EBI-717681, EBI-1572139
ATXN1	P54253²	MINT-2856383
CHGB	P05060²	MINT-64772
PRKAA2	ENSP00000360290³	STRING (score=.976)

About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006633	fatty acid biosynthetic process	IEA	--
GO:0008152	metabolic process	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for ACACA

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ACACA
10/24 Novoseek chemical compound relationships for ACACA gene (see all 24 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
acetyl-coa	95.94	185	19236960 (2), 12810950 (2), 15333468 (2), 16707454 (2) (see all 99)
malonyl-coa	83.29	14	10212840 (2), 18614968 (1), 12392882 (1), 11420304 (1) (see all 7)
fatty acid	82.73	171	17173081 (6), 7937924 (3), 15749055 (3), 18056116 (3) (see all 83)
sterol	72.88	16	19054139 (1), 15648028 (1), 12897191 (1), 17577393 (1) (see all 11)
acadesine	66.44	3	9781330 (1), 11423479 (1), 17173081 (1)
glycerol 3-phosphate	60.03	5	16864897 (1), 17762189 (1), 12759350 (1), 15810992 (1) (see all 5)
3-hydroxy-3-methylglutaryl-coa	53.33	2	19036562 (1)
lipid	52.87	29	1349893 (4), 15371448 (2), 18482975 (1), 19100718 (1) (see all 16)
triacylglycerol	51.23	3	16864897 (2), 16873691 (1)
glucose	50.96	77	7490534 (11), 17173081 (6), 8103051 (5), 12759350 (4) (see all 21)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ACACA)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ACACA)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6): NM_000664

Sigma-Aldrich siRNA and siRNA Panels for ACACA

Sigma-Aldrich shRNA for ACACA

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_198834 NM_198836 NM_198837 NM_198838 NM_198839

REFSEQ mRNAs for ACACA gene (5 alternative transcripts):

NM_198834.1 NM_198836.1 NM_198837.1 NM_198838.1 NM_198839.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_198834 NM_198836 NM_198837 NM_198838 NM_198839

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 5): NM_198834
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): NM_198834
                                 untagged cDNA clones in CMV expression vector (see all 5): NM_198834

Additional cDNA sequence:

AB209325.1 AB371587.1 AJ534888.1 AJ534889.1 AJ564444.1 AK129523.1 AK295586.1 AK295735.1

AK295805.1 AK296368.1 AK301579.1 AK308905.1 AK309084.1 AK309424.1 AK311329.1 AY237919.1

AY315619.1 AY315620.1 AY315621.1 AY315622.1 AY315623.1 AY315624.1 AY315625.1 AY315626.1

AY315627.1 BC031485.1 BC041598.1 BC137287.1 CR598320.1 CR607505.1 CR614552.1 CR626022.1

21 DOTS entries:

DT.100736812 DT.100736813 DT.101985128 DT.101962203 DT.95073752 DT.101985129 DT.453728 DT.40126576

DT.95290901 DT.306840 DT.99980749 DT.40268334 DT.455923 DT.91753337 DT.101959023 DT.120894008

DT.405329 DT.439704 DT.95073749 DT.100804380 DT.120893919

24/310 AceView cDNA sequences (see all 310 ):

BC031485 AL524713 CK430158 AW501896 AI763183 AL043764 BU188290 BM466101

BU621241 H94252 AA587289 AY315620 AI148943 CR614552 AI420962 BX092918

AI373414 BU538128 BE292887 CK431256 BU844932 BM553580 BQ688966 BE047484

highest scoring ESTs for ACACA:

AA082942 AA788920 AY315623 AY315625 AY315626 CF454424 AA011388 AA011425 AA083031 AA101277

Unigene Cluster for ACACA:

Acetyl-Coenzyme A carboxylase alpha

Hs.160556 [show with all ESTs]

Unigene Representative Sequence: NM_198839

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ACACA (see all 10 )

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^
SP1:																					-		-
SP2:
SP3:
SP4:																							-
SP5:					-		-		-		-		-								-

ExUns:	23	^	24	^	25	^	26	^	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38	^	39a	·	39b	^	40	^	41	^	42	^	43	^	44	^	45	^	46	^	47	^
SP1:
SP2:																																																			-
SP3:
SP4:
SP5:

ExUns:	48	^	49	^	50	^	51	^	52	^	53	^	54	^	55	^	56	^	57	^	58	^	59	^	60	^	61a	·	61b	^	62	^	63a	·	63b
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for ACACA

7 Ensembl transcripts including schematic representations:

ENST00000394403 ENST00000335166 ENST00000394406 ENST00000361253 ENST00000360679 ENST00000394407

ENST00000353139

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ACACA expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ACACA

¹ / ² / ³

7 probe-sets matching ACACA gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
49091_at²^{, 3}	U95-C	1	1.00	1.00	0.95	1.35	AA082942	0.80	1.00	0.91	1
38528_at²^{, 3}	U95-A	1	1.00	1.00	0.55	0.84	U19822	0.60	0.75	0.68	1
78783_at²^{, 3}	U95-E	1	1.00	1.00	0.94	0.81	AA788920	0.80	1.00	0.91	1
212186_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BE855983	0.40	1.00	0.76	1
214358_at²^{, 3}	U133-A	1	0.64	1.00	--	--	AW188201	0.60	1.00	0.82	1
212186_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
214358_at²	U133Plus2	1	0.64	1.00	--	--	--	--	--	--	--

GeneDecks ACACA for binary patterns associated with the probe-sets selected above

About GeneDecksing

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CAAGGCTACT

SOURCE GeneReport for Unigene cluster: Hs.160556
Expression variation in blood from EXPOLDB for ACACA
UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085
Tissue specificity: Expressed in brain, placental, skeletal muscle, renal, pancreatic and adipose
tissues; expressed at low level in pulmonary tissue; not detected in the liver

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ACACA gene from 5/23 species (see all 23 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ACACA¹	--	acetyl-Coenzyme A carboxylase alpha	93.61(n) 98.24(a)	491130 XM_548250.2 XP_548250.2
chimpanzee (Pan troglodytes)	ACACA¹	--	acetyl-Coenzyme A carboxylase alpha	99.62(n) 99.92(a)	454602 XM_511428.2 XP_511428.2
cow (Bos taurus)	ACACA¹	--	acetyl-coenzyme A carboxylase alpha	91.18(n) 97.61(a)	281590 NM_174224.2 NP_776649.1
rat (Rattus norvegicus)	Acaca¹	--	acetyl-coenzyme A carboxylase alpha	90.46(n) 97.4(a)	60581 NM_022193.1 NP_071529.1
mouse (Mus musculus)	Acaca^{1, 5}	11⁵	acetyl-Coenzyme A carboxylase alpha^{1, 5}	91.23(n)¹ 97.61(a)¹	107476¹ NM_133360.2¹ NP_579938.2¹ AA014384⁵ AF289714⁵ (see all 30)

About this table Species with no ortholog for ACACA

ENSEMBL Gene Tree for ACACA

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

Paralogs for ACACA gene

ACACB² MCCC1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/1367 NCBI SNPs in ACACA are shown (see all 1367 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 319)

AB	SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs829156^1,2	A,C,F,H	32791117(+)	`GGTGTC/TTCTAG`	3	--	int¹ ng3¹		10		EU EA WA	1018
	rs829157^1,2	A,C,F,H	32791168(+)	`TGTGTT/CGAAAA`	3	--	ng3¹ int¹		4		EU EA WA	414
	rs12451927^1,2	C,F,H	32517651(+)	`CCTTTC/TCCTTT`	5	--	ut3¹ ese³ trp³		5		EU EA WA NA	504
	rs17139041^1,2	F,H	32516172(+)	`AGATAA/GTATGG`	5	--	ut3¹		7		NA EU EA WA	560
	rs17138804^1,2	F,H	32730922(+)	`AAAGAG/CGTAAT`	5	--	int¹ ng3¹		7		NA EU EA WA	562
--	rs7223837^1,2	C	32791074(+)	`TCCTCC/TACTGT`	3	--	int¹ ng3¹		0	--	--	--	--
--	rs7350918^1,2	C	32517531(+)	`ACTCAA/GGCTTC`	5	--	ut3¹ ese³		0	--	--	--	--
	rs5017481^1,2	H	32796643(+)	`CTCCAG/TTTGTG`	2	--	int¹ ut5¹		4		EU EA WA	396
--	rs7350920^1,2	C	32517623(+)	`GTGCAA/GGCGAG`	5	--	ut3¹ ese³		0	--	--	--	--
	rs2287351^1,2	H	32675736(+)	`GATCCG/ATGGCA`	5	W/R	mis¹ ese³		5		EA EU WA	1914

About this table

HapMap Linkage Disequilibrium images for ACACA (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 200350

UniProtKB/Swiss-Prot: ACACA_HUMAN, Q13085

Defects in ACACA are a cause of ACACA deficiency [MIM:200350]; also called ACAC or ACC

deficiency. ACACA deficiency is an inborn error of de novo fatty acid synthesis. The disorder is

associated with severe brain damage, persistent myopathy and poor growth

10 Novoseek disease relationships for ACACA gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
fatty liver	45.46	1	18395093 (1)
hyperinsulinemia	45.42	1	8869748 (1)
insulin sensitivity	44.18	5	16046303 (2), 19169664 (1), 1346611 (1)
insulin resistance	25.68	1	19390150 (1)
ovarian cancer	19.20	4	15333468 (1), 16707454 (1)
breast cancer	9.78	30	15333468 (7), 17372234 (4), 17631500 (3), 16707454 (2) (see all 7)
shock	0.00	2	12670701 (1)
cancer	0.00	9	17372234 (2), 16061653 (1), 16778563 (1), 18452305 (1) (see all 7)
tumors	0.00	9	17620310 (2), 17372234 (1), 18794082 (1), 18796435 (1) (see all 5)
ischemia	0.00	1	11052978 (1)

About this table

Human Gene Mutation Database: ACACA
Genetic Association Database: ACACA
Human Genome Epidemiology Navigator: ACACA (5 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/213 PubMed articles for ACACA gene (see all 213 ):

Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility. (PubMed id 15333468)^{1, 3, 4, 6} Sinilnikova O.M.... Lenoir G.M. (2004)
Human acetyl-CoA carboxylase 1 gene: presence of three promoters and heterogeneity at the 5'-untranslated mRNA region. (PubMed id 12810950)^{1, 3, 4} Mao J.... Wakil S.J. (2003)
Asymmetric expression of transcripts derived from the shared promoter between the divergently oriented ACACA and TADA2L genes. (PubMed id 15607423)^{1, 3, 4} Travers M.T....Joulin V. (2005)
Characterisation of an N-terminal variant of acetyl-CoA carboxylase- alpha: expression in human tissues and evolutionary aspects. (PubMed id 14643797)^{1, 3, 4} Travers M.T....Barber M.C. (2003)
BRCA1 affects lipid synthesis through its interaction with acetyl-CoA carboxylase. (PubMed id 16326698)^{1, 3, 4} Moreau K.... Venezia N.D. (2006)
Human acetyl-CoA carboxylase: characterization, molecular cloning, and evidence for two isoforms. (PubMed id 7732023)^{1, 3, 4} Abu-Elheiga L.... Wakil S.J. (1995)
BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains. (PubMed id 12360400)^{1, 3, 4} Magnard C.... Venezia N.D. (2002)
ACCA phosphopeptide recognition by the BRCT repeats of BRCA1. (PubMed id 16698035)^{3, 4} Ray H.... Venezia N.D. (2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{3, 4} Olsen J.V....Mann M. (2006)
Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)^{3, 4} Beausoleil S.A....Gygi S.P. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 31	HGNC: 84	AceView: ACACA	Ensembl:ENSG00000132142	euGenes: HUgn31
ECgene: ACACA	H-InvDB: ACACA

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for ACACA	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Acetyl-CoA_carboxylase

Licensable Technologies for ACACA
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ACACA:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ACACA-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ACACA		Antibodies for ACACA
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ACACA		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ACACA)
	Antibodies (ACACA)
	Chimera RNAi (ACACA)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for ACACA (Acetyl-CoA carboxylase alpha)

	Recombinant Proteins (Acetyl Coenzyme A Carboxylase, Acetyl Coenzyme A carboxylase alpha)
	Antibodies (Acetyl Coenzyme A Carboxylase, Acetyl Coenzyme A carboxylase alpha)

Search OriGene for ACACA

Search Tocris compounds for ACACA

	Drugs for ACACA
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for ACACA

GeneCards Homepage - Last full update: 1 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
ACACA Gene at Home site.
Version 2.41.1
server5.xennexinc.com

ACACA Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for ACACA

Summaries
for ACACA

Genomic Location
for ACACA

Proteins
for ACACA

Protein Domains/
Families
for ACACA

Gene Function
for ACACA

Pathways & Interactions
for ACACA

Drugs & Compounds
for ACACA

Transcripts
for ACACA

Expression
for ACACA

Orthologs
for ACACA

Paralogs
for ACACA

SNPs/Variants
for ACACA

Disorders & Mutations
for ACACA

Medical News
for ACACA

Publications
for ACACA

Search for ACACA

Genome Databases showing ACACA

Other Databases showing ACACA

Specialized Databases showing ACACA

Licensable Technologies
for ACACA

Services
for ACACA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ACACA Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor ACACA

Summariesfor ACACA

Genomic Locationfor ACACA

Proteinsfor ACACA

Protein Domains/Familiesfor ACACA

Gene Functionfor ACACA

Pathways & Interactionsfor ACACA

Drugs & Compoundsfor ACACA

Transcriptsfor ACACA

Expression for ACACA

Orthologsfor ACACA

Paralogsfor ACACA

SNPs/Variantsfor ACACA

Disorders & Mutationsfor ACACA

Medical Newsfor ACACA

Publicationsfor ACACA

Search for ACACA

Genome Databases showing ACACA

Other Databases showing ACACA

Specialized Databases showing ACACA

Licensable Technologiesfor ACACA

Servicesfor ACACA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ACACA

Summaries
for ACACA

Genomic Location
for ACACA

Proteins
for ACACA

Protein Domains/
Families
for ACACA

Gene Function
for ACACA

Pathways & Interactions
for ACACA

Drugs & Compounds
for ACACA

Transcripts
for ACACA

Expression
for ACACA

Orthologs
for ACACA

Paralogs
for ACACA

SNPs/Variants
for ACACA

Disorders & Mutations
for ACACA

Medical News
for ACACA

Publications
for ACACA

Licensable Technologies
for ACACA

Services
for ACACA