Aliases for ACACB Gene
Aliases for ACACB Gene
External Ids for ACACB Gene
- HGNC: 85
- Entrez Gene: 32
- Ensembl: ENSG00000076555
- OMIM: 601557
- UniProtKB: O00763
Previous GeneCards Identifiers for ACACB Gene
- GC12P108635
- GC12P109416
- GC12P108039
- GC12P108017
- GC12P108062
- GC12P109577
- GC12P106595
Summaries for ACACB Gene
-
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]
GeneCards Summary for ACACB Gene
ACACB (Acetyl-CoA Carboxylase Beta) is a Protein Coding gene. Diseases associated with ACACB include Acetyl-Coa Carboxylase-Beta Deficiency and Biotin Deficiency. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and fatty acid biosynthesis initiation. GO annotations related to this gene include ligase activity and biotin binding. An important paralog of this gene is ACACA.
UniProtKB/Swiss-Prot for ACACB Gene
-
Catalyzes the ATP-dependent carboxylation of acetyl-CoA to malonyl-CoA. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase. Involved in inhibition of fatty acid and glucose oxidation and enhancement of fat storage (By similarity). May play a role in regulation of mitochondrial fatty acid oxidation through malonyl-CoA-dependent inhibition of carnitine palmitoyltransferase 1 (By similarity).
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACACB Gene
Genomics for ACACB Gene
Regulatory Elements for ACACB Gene
- Transcription factor binding sites by QIAGEN in the ACACB gene promoter:
Regulatory Element Products
Genomic Location for ACACB Gene
- Chromosome:
- 12
- Start:
- 109,111,184 bp from pter
- End:
- 109,268,226 bp from pter
- Size:
- 157,043 bases
- Orientation:
- Plus strand
Genomic View for ACACB Gene
- Cytogenetic band:
-
- 12q24.11 by Ensembl
- 12q24.11 by Entrez Gene
- 12q24.11 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ACACB Gene
Proteins for ACACB Gene
-
Protein details for ACACB Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O00763-ACACB_HUMAN
- Recommended name:
- Acetyl-CoA carboxylase 2
- Protein Accession:
- O00763
- A6NK36
- Q16852
- Q1HEC1
- Q6KE87
- Q6KE89
- Q6TY48
Protein attributes for ACACB Gene
- Size:
- 2458 amino acids
- Molecular mass:
- 276541 Da
- Cofactor:
- Name=biotin; Xref=ChEBI:CHEBI:57586;
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
-
- Monomer, homodimer, and homotetramer. Can form filamentous polymers. Interacts with MID1IP1; interaction with MID1IP1 promotes oligomerization and increases its activity.
- SequenceCaution:
-
- Sequence=AAB58382.1; Type=Miscellaneous discrepancy; Note=Many Frameshifts and conflicts.; Evidence={ECO:0000305}; Sequence=CAE01470.2; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for ACACB Gene
Protein Expression for ACACB Gene
Post-translational modifications for ACACB Gene
- Phosphorylated by AMPK, leading to inactivation of the enzyme. Required for the maintenance of skeletal muscle lipid and glucose homeostasis (By similarity).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ACACB Gene
Antibody Products
- Cell Signaling Technology (CST) Antibodies for ACACB (ACC2)
-
Custom Antibody ServicesOriGene Antibodies for ACACB
- Novus Biologicals Antibodies for ACACB
-
Abcam antibodies for ACACB
-
Cloud-Clone Corp. Antibodies for ACACB
- Invitrogen Antibodies for ACACB
- antibodies-online Antibodies for ACACB: See all 49
- GeneTex ACACB antibody for ACACB
-
Santa Cruz Biotechnology (SCBT) Antibodies for ACACB
Protein Products
- EMD Millipore Purified and/or Recombinant ACACB Protein
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ACACB
- Origene Custom Protein Services for ACACB
- Novus Biologicals proteins for ACACB
-
Cloud-Clone Corp. Proteins for ACACB
- Search GeneTex for Proteins for ACACB
-
Abcam proteins for ACACB
Assay Products
- Cell Signaling Technology (CST) Sandwich ELISA Kits for ACACB (ACC2)
- antibodies-online Kits for ACACB: See all 1
No data available for DME Specific Peptides for ACACB Gene
Domains & Families for ACACB Gene
Gene Families for ACACB Gene
- IUPHAR :
Protein Domains for ACACB Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ACACB Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ACACB Gene
Function for ACACB Gene
Molecular function for ACACB Gene
- GENATLAS Biochemistry:
- acetyl-CoA carboxylase beta,280kDa,expressed in heart and skeletal muscle,liver,colocalizing with CPT1 at the outer mitochondrial membrane,providing the malonyl-CoA allosterically regulating CPT1 activity,involved in the regulation of fatty acid beta-oxidation and energy production
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=120 uM for ATP {ECO:0000269 PubMed:16854592}; KM=110 uM for ATP (isoform 2) {ECO:0000269 PubMed:19190759}; KM=58 uM for acetyl-CoA {ECO:0000269 PubMed:16854592}; KM=94 uM for acetyl-CoA (isoform 3) {ECO:0000269 PubMed:19190759}; KM=6.5 mM for NaHCO3 (isoform 3) {ECO:0000269 PubMed:19190759}; KM=3.0 mM for NaHCO(3) {ECO:0000269 PubMed:16854592};
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + acetyl-CoA + HCO(3)(-) = ADP + phosphate + malonyl-CoA.
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + biotin-[carboxyl-carrier-protein] + HCO(3)(-) = ADP + phosphate + carboxy-biotin-[carboxyl-carrier-protein].
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activity is increased by oligomerization. Activated by citrate. Citrate and MID1IP1 promote oligomerization. Inhibited by malonyl-CoA.
- UniProtKB/Swiss-Prot Function:
- Catalyzes the ATP-dependent carboxylation of acetyl-CoA to malonyl-CoA. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase. Involved in inhibition of fatty acid and glucose oxidation and enhancement of fat storage (By similarity). May play a role in regulation of mitochondrial fatty acid oxidation through malonyl-CoA-dependent inhibition of carnitine palmitoyltransferase 1 (By similarity).
Enzyme Numbers (IUBMB) for ACACB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0003989 | acetyl-CoA carboxylase activity | IEA,IDA | 20952656 |
| GO:0004075 | biotin carboxylase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 16794074 |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for ACACB Gene
- MGI mutant phenotypes for ACACB:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for ACACB:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability in esophageal squamous lineage
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased HIV-LTR-beta-galactosidase protein expression
- Decreased shRNA abundance
- Decreased Tat-dependent HIV-LTR-beta-galactosidase protein expression
Animal Model Products
-
Taconic Biosciences Mouse Models for ACACB
- Cyagen custom Knockout/knockin (KOKI) mouse models for ACACB
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ACACB gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ACACB gene
- Search ViGene Biosciences for ACACB
CRISPR Products
-
OriGene CRISPR knockouts for ACACB
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACACB
- GenScript: Design CRISPR guide RNA sequences for ACACB
miRNA for ACACB Gene
- miRTarBase miRNAs that target ACACB
-
- hsa-mir-148b-3p (MIRT019364)
- hsa-mir-544a (MIRT441298)
- hsa-mir-7703 (MIRT630841)
- hsa-mir-6720-5p (MIRT630842)
- hsa-mir-6512-3p (MIRT630843)
- hsa-mir-4252 (MIRT630844)
- hsa-mir-6797-3p (MIRT630845)
- hsa-mir-6076 (MIRT630846)
- hsa-mir-4793-3p (MIRT630847)
- hsa-mir-766-3p (MIRT630848)
- hsa-mir-6849-3p (MIRT630849)
- hsa-mir-1273g-3p (MIRT630850)
- hsa-mir-425-5p (MIRT630851)
- hsa-mir-596 (MIRT630852)
- hsa-mir-508-5p (MIRT630853)
miRNA Products
- Search ViGene Biosciences for ACACB
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ACACB
- Browse OriGene Inhibitory RNA Products For ACACB
-
ViGene Biosciences ready-to-package AAV shRNAs for ACACB gene
Clone Products
-
OriGene ORF clones in human for ACACB
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ACACB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACACB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for ACACB
-
ViGene Biosciences adenoviral particle packaged cDNA for ACACB gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ACACB gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ACACB gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12320) for ACACB
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACACB Gene
Localization for ACACB Gene
Subcellular locations from UniProtKB/Swiss-Prot for ACACB Gene
- Mitochondrion. Nucleus. Endomembrane system. Note=May associate with membranes.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 10677481 |
| GO:0005739 | mitochondrion | IEA,IDA | 10677481 |
| GO:0005741 | mitochondrial outer membrane | TAS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0012505 | endomembrane system | IEA | -- |
Pathways & Interactions for ACACB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of water-soluble vitamins and cofactors | ||
| 2 | Metabolism |
.37
|
|
| 3 | AMP-activated Protein Kinase (AMPK) Signaling | ||
| 4 | Regulation of cholesterol biosynthesis by SREBP (SREBF) | ||
| 5 | Integration of energy metabolism | ||
Pathways by source for ACACB Gene
1 Cell Signaling Technology pathway for ACACB Gene
6 BioSystems pathways for ACACB Gene
9 Reactome pathways for ACACB Gene
1 PharmGKB pathway for ACACB Gene
9 KEGG pathways for ACACB Gene
2 GeneGo (Thomson Reuters) pathways for ACACB Gene
1 Qiagen pathway for ACACB Gene
UniProtKB/Swiss-Prot O00763-ACACB_HUMAN
- Pathway: Lipid metabolism; malonyl-CoA biosynthesis; malonyl-CoA from acetyl-CoA: step 1/1.
Interacting Proteins for ACACB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006084 | acetyl-CoA metabolic process | IDA | 20952656 |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006631 | fatty acid metabolic process | IEA | -- |
| GO:0006633 | fatty acid biosynthetic process | IEA | -- |
| GO:0006768 | biotin metabolic process | TAS | -- |
No data available for SIGNOR curated interactions for ACACB Gene
Drugs & Compounds for ACACB Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| acetyl-coa |
|
72-89-9 | ||||
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
||
| Carbonic acid |
|
463-79-6 |
|
|||
| Phosphate |
|
14265-44-2 |
|
Transcripts for ACACB Gene
mRNA/cDNA for ACACB Gene
- (8) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (182) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ACACB Gene
CRISPR Products
-
OriGene CRISPR knockouts for ACACB
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACACB
- GenScript: Design CRISPR guide RNA sequences for ACACB
miRNA Products
- Search ViGene Biosciences for ACACB
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ACACB
- Browse OriGene Inhibitory RNA Products For ACACB
-
ViGene Biosciences ready-to-package AAV shRNAs for ACACB gene
Clone Products
-
OriGene ORF clones in human for ACACB
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ACACB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACACB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12320) for ACACB
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36a | · | 36b | ^ | 37a | · | 37b | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41a | · | 41b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 42 | ^ | 43 | ^ | 44a | · | 44b | ^ | 45a | · | 45b | ^ | 46a | · | 46b | ^ | 47a | · | 47b | ^ | 48 | ^ | 49 | ^ | 50a | · | 50b | ^ | 51 | ^ | 52 | ^ | 53 | ^ | 54 | ^ | 55 | ^ | 56 | ^ | 57a | · | 57b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||||||
| SP11: |
Expression for ACACB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
-
Epiblast (Early Embryonic Tissues)
- Intraembryonic Epiblast Cells Epiblast
- Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for ACACB Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACACB Gene
NURSA nuclear receptor signaling pathways regulating expression of ACACB Gene:
ACACBSOURCE GeneReport for Unigene cluster for ACACB Gene:
Hs.234898mRNA Expression by UniProt/SwissProt for ACACB Gene:
O00763-ACACB_HUMANEvidence on tissue expression from TISSUES for ACACB Gene
- Liver(4.8)
- Heart(4.5)
- Muscle(3.5)
Primer Products
-
OriGene qPCR primer pairs for ACACB
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACACB Gene
Orthologs for ACACB Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ACACB 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ACACB 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ACACB 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ACACB 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Acacb 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Acacb 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ACACB 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ACACB 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ACACB 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | acacb 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | acacb 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG11198 36 |
|
|
|
| ACC 35 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | W09B6.1 36 |
|
|
|
| T28F3.5 36 35 |
|
||||
| pod-2 35 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ACC1 35 37 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for ACACB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for ACACB Gene
(1) SIMAP similar genes for ACACB Gene using alignment to 8 proteins:
Variants for ACACB Gene
| SNP ID | Clin | Chr 12 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_062667 | A pancreatic ductal adenocarcinoma sample | ||||
| rs3219275 | Likely benign | 109,110,982(+) | AAGTT(A/T)GTTAA | upstream-variant-2KB, utr-variant-3-prime | |
| rs56185014 | Likely benign | 109,110,850(+) | TATAT(-/AT)TTTTC | upstream-variant-2KB, utr-variant-3-prime | |
| rs886048913 | Likely benign | 109,110,757(+) | TTTTT(-/T)AACCG | upstream-variant-2KB, utr-variant-3-prime | |
| rs150677845 | Uncertain significance | 109,110,677(+) | CTTTA(C/T)GGGGT | upstream-variant-2KB, utr-variant-3-prime |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1553n100 | CNV | gain | 25217958 |
| dgv1554n100 | CNV | gain | 25217958 |
| dgv2855n54 | CNV | gain | 21841781 |
| dgv867n106 | CNV | deletion | 24896259 |
| esv1456600 | CNV | deletion | 17803354 |
| esv2158529 | CNV | deletion | 18987734 |
| esv2671931 | CNV | deletion | 23128226 |
| esv2673080 | CNV | deletion | 23128226 |
| esv2746347 | CNV | deletion | 23290073 |
| esv2746348 | CNV | deletion | 23290073 |
| nsv1122762 | CNV | deletion | 24896259 |
| nsv455712 | CNV | gain | 19166990 |
| nsv507674 | OTHER | sequence alteration | 20534489 |
| nsv526593 | CNV | loss | 19592680 |
| nsv528323 | CNV | gain | 19592680 |
Relevant External Links for ACACB Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACACB Gene
Disorders for ACACB Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| acetyl-coa carboxylase-beta deficiency |
|
|
| biotin deficiency |
|
|
| obesity |
|
|
| diabetes mellitus, noninsulin-dependent |
|
Relevant External Links for ACACB
No data available for UniProtKB/Swiss-Prot and Genatlas for ACACB Gene
Publications for ACACB Gene
- A single nucleotide polymorphism within the acetyl-coenzyme A carboxylase beta gene is associated with proteinuria in patients with type 2 diabetes. (PMID: 20168990) Maeda S. … Nakamura Y. (PLoS Genet. 2010) 3 22 46 64
- ACC2 is expressed at high levels in human white adipose and has an isoform with a novel N-terminus [corrected]. (PMID: 19190759) Castle J.C. … Johnson J.M. (PLoS ONE 2009) 3 4 22 64
- Acetyl-coenzyme A carboxylase alpha gene variations may be associated with the direct effects of some antipsychotics on triglyceride levels. (PMID: 19846279) Diaz F.J. … de Leon J. (Schizophr. Res. 2009) 3 22 46 64
- Exploring genetic variations that may be associated with the direct effects of some antipsychotics on lipid levels. (PMID: 18031993) de Leon J. … Diaz F.J. (Schizophr. Res. 2008) 3 22 46 64
- Expression, purification, and characterization of human and rat acetyl coenzyme A carboxylase (ACC) isozymes. (PMID: 16854592) Cheng D. … Tamura J.K. (Protein Expr. Purif. 2007) 3 4 22 64
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