Human Gene ACACB (ENST00000338432.12) from GENCODE V44
  Description: Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. (from RefSeq NM_001093)
RefSeq Summary (NM_001093): 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. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000338432.12
Gencode Gene: ENSG00000076555.16
Transcript (Including UTRs)
   Position: hg38 chr12:109,116,587-109,268,226 Size: 151,640 Total Exon Count: 53 Strand: +
Coding Region
   Position: hg38 chr12:109,139,406-109,266,362 Size: 126,957 Coding Exon Count: 52 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:109,116,587-109,268,226)mRNA (may differ from genome)Protein (2458 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACACB_HUMAN
DESCRIPTION: RecName: Full=Acetyl-CoA carboxylase 2; EC=6.4.1.2; AltName: Full=ACC-beta; Includes: RecName: Full=Biotin carboxylase; EC=6.3.4.14;
FUNCTION: ACC-beta may be involved in the provision of malonyl-CoA or in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. 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 + carboxy-biotin-[carboxyl-carrier- protein].
COFACTOR: Biotin (By similarity).
COFACTOR: Binds 2 manganese ions per subunit (By similarity).
ENZYME REGULATION: Activity is increased by oligomerization. Activated by citrate. Citrate and MID1IP1 promote oligomerization. Inhibited by malonyl-CoA.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=120 uM for ATP; KM=58 uM for Acetyl-CoA; KM=3.0 mM for NaHCO(3);
PATHWAY: Lipid metabolism; malonyl-CoA biosynthesis; malonyl-CoA from acetyl-CoA: step 1/1.
SUBUNIT: Monomer, homodimer, and homotetramer. Can form filamentous polymers. Interacts with MID1IP1; interaction with MID1IP1 promotes oligomerization and increases its activity.
SUBCELLULAR LOCATION: Endomembrane system. Note=May associate with membranes.
TISSUE SPECIFICITY: Predominantly expressed in the heart, skeletal muscles and liver.
PTM: Phosphorylated by AMPK, leading to inactivates enzyme activity (By similarity).
SIMILARITY: Contains 1 ATP-grasp domain.
SIMILARITY: Contains 1 biotin carboxylation domain.
SIMILARITY: Contains 1 biotinyl-binding domain.
SIMILARITY: Contains 1 carboxyltransferase domain.
SEQUENCE CAUTION: Sequence=AAB58382.1; Type=Miscellaneous discrepancy; Note=Many Frameshifts and conflicts; Sequence=CAE01470.2; Type=Erroneous translation; Note=Wrong choice of CDS;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ACACB
Diseases sorted by gene-association score: acetyl-coa carboxylase-beta deficiency* (100), biotin deficiency (10), obesity (3), diabetes mellitus, noninsulin-dependent (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 77.59 RPKM in Adipose - Visceral (Omentum)
Total median expression: 670.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.60127-0.186 Picture PostScript Text
3' UTR -668.001864-0.358 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013537 - AcCoA_COase_cen
IPR011761 - ATP-grasp
IPR013816 - ATP_grasp_subdomain_2
IPR011764 - Biotin_carboxylation_dom
IPR005482 - Biotin_COase_C
IPR000089 - Biotin_lipoyl
IPR005481 - CarbamoylP_synth_lsu_N
IPR000022 - Carboxyl_trans
IPR005479 - CbamoylP_synth_lsu-like_ATP-bd
IPR011763 - COA_CT_C
IPR011762 - COA_CT_N
IPR016185 - PreATP-grasp_fold
IPR011054 - Rudment_hybrid_motif
IPR011053 - Single_hybrid_motif

Pfam Domains:
PF08326 - Acetyl-CoA carboxylase, central region
PF02785 - Biotin carboxylase C-terminal domain
PF00364 - Biotin-requiring enzyme
PF01039 - Carboxyl transferase domain
PF00289 - Biotin carboxylase, N-terminal domain
PF02786 - Carbamoyl-phosphate synthase L chain, ATP binding domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DN8 - NMR MuPIT 2HJW - X-ray MuPIT 2KCC - NMR MuPIT 3FF6 - X-ray MuPIT 3GID - X-ray MuPIT 3GLK - X-ray MuPIT 3JRW - X-ray MuPIT 3JRX - X-ray MuPIT 3TDC - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O00763
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0003989 acetyl-CoA carboxylase activity
GO:0004075 biotin carboxylase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0009374 biotin binding
GO:0016874 ligase activity
GO:0042802 identical protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0006084 acetyl-CoA metabolic process
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0006853 carnitine shuttle
GO:0008152 metabolic process
GO:0010629 negative regulation of gene expression
GO:0010884 positive regulation of lipid storage
GO:0010906 regulation of glucose metabolic process
GO:0014070 response to organic cyclic compound
GO:0031325 positive regulation of cellular metabolic process
GO:0031667 response to nutrient levels
GO:0031999 negative regulation of fatty acid beta-oxidation
GO:0042493 response to drug
GO:0043086 negative regulation of catalytic activity
GO:0045540 regulation of cholesterol biosynthetic process
GO:0046322 negative regulation of fatty acid oxidation
GO:0050995 negative regulation of lipid catabolic process
GO:0051289 protein homotetramerization
GO:0060421 positive regulation of heart growth
GO:0097009 energy homeostasis
GO:2001295 malonyl-CoA biosynthetic process

Cellular Component:
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005829 cytosol
GO:0012505 endomembrane system
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AY382667 - Homo sapiens acetyl-CoA carboxylase 2 (ACC2) mRNA, complete cds.
LF384002 - JP 2014500723-A/191505: Polycomb-Associated Non-Coding RNAs.
MA619579 - JP 2018138019-A/191505: Polycomb-Associated Non-Coding RNAs.
AJ575431 - Homo sapiens mRNA for acetyl-CoA carboxylase 2 (ACACB gene).
BC172264 - Synthetic construct Homo sapiens clone IMAGE:100068958, MGC:198969 acetyl-Coenzyme A carboxylase beta (ACACB) mRNA, encodes complete protein.
BC172569 - Synthetic construct Homo sapiens clone IMAGE:100069263, MGC:199274 acetyl-Coenzyme A carboxylase beta (ACACB) mRNA, encodes complete protein.
AJ575592 - Homo sapiens mRNA for Acetyl-CoA carboxylase 2 (ACACB gene).
DQ493870 - Homo sapiens acetyl-Coenzyme A carboxylase 2 mRNA, complete cds.
U89344 - Human acetyl-CoA carboxylase (ACC2) mRNA, complete cds.
AK307466 - Homo sapiens cDNA, FLJ97414.
AB209110 - Homo sapiens mRNA for Acetyl-CoA carboxylase 2 variant protein.
U34591 - Human acetyl-CoA carboxylase beta mRNA, partial cds.
BC028417 - Homo sapiens acetyl-Coenzyme A carboxylase beta, mRNA (cDNA clone IMAGE:4824130), complete cds.
AK302469 - Homo sapiens cDNA FLJ60369 complete cds, highly similar to Acetyl-CoA carboxylase 2 (EC 6.4.1.2).
AK302502 - Homo sapiens cDNA FLJ60371 complete cds, highly similar to Acetyl-CoA carboxylase 2 (EC 6.4.1.2).
AX721228 - Sequence 188 from Patent WO0220754.
JD300596 - Sequence 281620 from Patent EP1572962.
BC009753 - Homo sapiens acetyl-Coenzyme A carboxylase beta, mRNA (cDNA clone IMAGE:3833472).
JD368301 - Sequence 349325 from Patent EP1572962.
JD061286 - Sequence 42310 from Patent EP1572962.
JD427681 - Sequence 408705 from Patent EP1572962.
JD283704 - Sequence 264728 from Patent EP1572962.
JD232404 - Sequence 213428 from Patent EP1572962.
JD377649 - Sequence 358673 from Patent EP1572962.
JD088663 - Sequence 69687 from Patent EP1572962.
JD514160 - Sequence 495184 from Patent EP1572962.
JD070361 - Sequence 51385 from Patent EP1572962.
JD398365 - Sequence 379389 from Patent EP1572962.
JD294857 - Sequence 275881 from Patent EP1572962.
JD545482 - Sequence 526506 from Patent EP1572962.
JD330743 - Sequence 311767 from Patent EP1572962.
JD331393 - Sequence 312417 from Patent EP1572962.
JD108077 - Sequence 89101 from Patent EP1572962.
JD108078 - Sequence 89102 from Patent EP1572962.
JD480450 - Sequence 461474 from Patent EP1572962.
JD505272 - Sequence 486296 from Patent EP1572962.
JD106843 - Sequence 87867 from Patent EP1572962.
JD448721 - Sequence 429745 from Patent EP1572962.
JD445903 - Sequence 426927 from Patent EP1572962.
JD307665 - Sequence 288689 from Patent EP1572962.
JD071192 - Sequence 52216 from Patent EP1572962.
JD211132 - Sequence 192156 from Patent EP1572962.
JD251077 - Sequence 232101 from Patent EP1572962.
JD314365 - Sequence 295389 from Patent EP1572962.
JD302270 - Sequence 283294 from Patent EP1572962.
JD079904 - Sequence 60928 from Patent EP1572962.
JD094375 - Sequence 75399 from Patent EP1572962.
JD453974 - Sequence 434998 from Patent EP1572962.
JD307573 - Sequence 288597 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5966-1 - fatty acid biosynthesis initiation (animals and fungi, cytoplasm)
PWY0-1264 - biotin-carboxyl carrier protein assembly
PWY66-429 - fatty acid biosynthesis initiation (mitochondria)

Reactome (by CSHL, EBI, and GO)

Protein O00763 (Reactome details) participates in the following event(s):

R-HSA-4167511 HLCS biotinylates ACACB
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
R-HSA-163765 ChREBP activates metabolic gene expression
R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-196780 Biotin transport and metabolism
R-HSA-163685 Energy Metabolism
R-HSA-8957322 Metabolism of steroids
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-1430728 Metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-196854 Metabolism of vitamins and cofactors

-  Other Names for This Gene
  Alternate Gene Symbols: A6NK36, ACACB_HUMAN, ACC2, ACCB, ENST00000338432.1, ENST00000338432.10, ENST00000338432.11, ENST00000338432.2, ENST00000338432.3, ENST00000338432.4, ENST00000338432.5, ENST00000338432.6, ENST00000338432.7, ENST00000338432.8, ENST00000338432.9, NM_001093, O00763, Q16852, Q1HEC1, Q6KE87, Q6KE89, Q6TY48, uc001tob.1, uc001tob.2, uc001tob.3, uc001tob.4, uc001tob.5
UCSC ID: ENST00000338432.12
RefSeq Accession: NM_001093
Protein: O00763 (aka ACACB_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.