Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
32
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Acetyl-CoA carboxylase beta |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
ACACB |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
ACACbeta, ACC-beta, ACC2, ACCB, ACCbeta, HACC275 |
Chromosome
Chromosome number
|
12 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12q24.11 |
Summary
Summary of gene provided in NCBI Entrez 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 fatt |
UniProt ID |
O00763
|
Protein name |
Acetyl-CoA carboxylase 2 (EC 6.4.1.2) (ACC-beta) |
Protein function |
Mitochondrial enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA and plays a central role in fatty acid metabolism (PubMed:16854592, PubMed:19236960, PubMed:19900410, PubMed:20457939, PubMed:20952656, PubMed:26976583). Catalyze |
PDB |
2DN8
,
2HJW
,
2KCC
,
3FF6
,
3GID
,
3GLK
,
3JRW
,
3JRX
,
3TDC
,
4HQ6
,
5KKN
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00289
|
Biotin_carb_N |
259 → 379 |
Biotin carboxylase, N-terminal domain |
Domain |
PF02786
|
CPSase_L_D2 |
417 → 616 |
Carbamoyl-phosphate synthase L chain, ATP binding domain |
Domain |
PF02785
|
Biotin_carb_C |
650 → 758 |
Biotin carboxylase C-terminal domain |
Domain |
PF00364
|
Biotin_lipoyl |
895 → 961 |
Biotin-requiring enzyme |
Domain |
PF08326
|
ACC_central |
962 → 1688 |
Acetyl-CoA carboxylase, central region |
Family |
PF01039
|
Carboxyl_trans |
1780 → 2334 |
Carboxyl transferase domain |
Family |
|
Tissue specificity |
TISSUE SPECIFICITY: Widely expressed with highest levels in heart, skeletal muscle, liver, adipose tissue, mammary gland, adrenal gland and colon (PubMed:9099716). Isoform 3 is expressed in skeletal muscle, adipose tissue and liver (at protein level) (Pub |
Sequence |
|
Sequence length |
2458 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
20882379 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Pancreatic adenocarcinoma |
Pancreatic Ductal Adenocarcinoma |
PDAC patients with high expression of PSMA6 having a significantly shorter overall survival rate. |
|
ClinVar, CBGDA |
Diabetes |
Diabetes |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Alzheimer Disease |
Associate
|
31984950 |
Breast Neoplasms |
Associate
|
31178227, 34257557, 37893423 |
Carcinoma Hepatocellular |
Associate
|
30341252 |
Cardiomyopathies |
Associate
|
37416771 |
Colorectal Neoplasms |
Associate
|
36111743 |
Congenital Hyperinsulinism |
Associate
|
23869231 |
Coronary Artery Disease |
Associate
|
28120895 |
Dermatitis |
Associate
|
27206134 |
Dermatitis Contact |
Associate
|
27206134 |
Diabetes Mellitus |
Associate
|
21887335, 21908218 |
Diabetes Mellitus Type 2 |
Associate
|
20519229, 21908218, 34085602 |
Diabetic Nephropathies |
Associate
|
20519229 |
Endometrial Neoplasms |
Associate
|
32894095 |
Glaucoma |
Associate
|
36833422 |
Glaucoma Angle Closure |
Associate
|
36833422 |
Hypercholesterolemia |
Associate
|
19846279 |
Hypoalphalipoproteinemias |
Associate
|
32541515 |
Insulin Resistance |
Associate
|
20855566, 21701566, 23562819 |
Kidney Diseases |
Associate
|
20519229 |
Metabolic Syndrome |
Associate
|
20855566 |
Myalgia |
Associate
|
20602615 |
Myositis |
Associate
|
20602615 |
Nasopharyngeal Carcinoma |
Associate
|
32541515 |
Neoplasm Metastasis |
Associate
|
31178227 |
Neoplasms |
Associate
|
29050494 |
Obesity |
Associate
|
19717488, 20439761, 21908218, 34085602 |
Obesity Abdominal |
Associate
|
20855566 |
Optic Atrophy Hereditary Leber |
Associate
|
36233195 |
Pain |
Associate
|
20602615 |
Pancreatic Neoplasms |
Associate
|
34389782 |
Sepsis |
Associate
|
37416771 |
Thyroid Cancer Papillary |
Associate
|
32299435 |
Triple Negative Breast Neoplasms |
Inhibit
|
32927665 |
Virus Diseases |
Associate
|
29194580 |
|