Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
31
Gene name Gene Name - the full gene name approved by the HGNC.
Acetyl-CoA carboxylase alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACACA
Synonyms (NCBI Gene) Gene synonyms aliases
ACAC, ACACAD, ACACalpha, ACC, ACC1, ACCA, ACCalpha, Acac1, hACC1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ACACAD, ACC
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q12
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. There are two ACC forms, alpha and b
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017082 hsa-miR-335-5p Microarray 18185580
MIRT030449 hsa-miR-24-3p Microarray 19748357
MIRT032204 hsa-let-7b-5p Proteomics 18668040
MIRT032204 hsa-let-7b-5p CLASH 23622248
MIRT049478 hsa-miR-92a-3p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
CREB1 Activation 19842072
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0001894 Process Tissue homeostasis IEA
GO:0003989 Function Acetyl-CoA carboxylase activity IDA 20457939, 26976583, 29899443
GO:0003989 Function Acetyl-CoA carboxylase activity ISS 20952656
GO:0003989 Function Acetyl-CoA carboxylase activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
200350 84 ENSG00000278540
Protein
UniProt ID Q13085
Protein name Acetyl-CoA carboxylase 1 (ACC1) (EC 6.4.1.2) (Acetyl-Coenzyme A carboxylase alpha) (ACC-alpha)
Protein function Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis (PubMed:20457939, PubMed:20952656, PubMed:29899443). This is a 2 steps reaction starting with the
PDB 2YL2 , 3COJ , 4ASI , 6G2D , 6G2H , 6G2I , 8XKZ , 8XL0 , 8XL1 , 8XL2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00289 Biotin_carb_N 117 237 Biotin carboxylase, N-terminal domain Domain
PF02786 CPSase_L_D2 272 473 Carbamoyl-phosphate synthase L chain, ATP binding domain Domain
PF02785 Biotin_carb_C 507 615 Biotin carboxylase C-terminal domain Domain
PF00364 Biotin_lipoyl 752 818 Biotin-requiring enzyme Domain
PF08326 ACC_central 819 1569 Acetyl-CoA carboxylase, central region Family
PF01039 Carboxyl_trans 1669 2223 Carboxyl transferase domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, placenta, skeletal muscle, renal, pancreatic and adipose tissues; expressed at low level in pulmonary tissue; not detected in the liver.
Sequence
MDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLS
DLGISSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEK
VLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFVVMVTPEDLKANAEYIKMADHYVPVPG
GPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAM
WAL
GDKIASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQA
AEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLFRQVQAEVPGSPIFVMRLAKQSRHLEV
QILADQYGNAISLFGRDCSVQRRHQKIIEEAPATIATPAVFEHMEQCAVKLAKMVGYVSA
GTVEYLYSQDGSFYFLELNPRLQVEHPCTEMVADVNLPAAQLQIAMGIPLYRI
KDIRMMY
GVSPWGDSPIDFEDSAHVPCPRGHVIAARITSENPDEGFKPSSGTVQELNFRSNKNVWGY
FSVAAAGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLIKLLET
ESFQMNRIDTGWLDR
LIAEKVQAERPDTMLGVVCGALHVADVSLRNSVSNFLHSLERGQV
LPAHTLLNTVDVELIYEGVKYVLKVTRQSPNSYVVIMNGSCVEVDVHRLSDGGLLLSYDG
SSYTTYMKEEVDRYRITIGNKTCVFEKENDPSVMRSPSAGKLIQYIVEDGGHVFAGQCYA
EIEVMKMVMTLTAVESGCIHYVKRPGAALDPGCVLAKM
QLDNPSKVQQAELHTGSLPRIQ
STALRGEKLHRVFHYVLDNLVNVMNGYCLPDPFFSSKVKDWVERLMKTLRDPSLPLLELQ
DIMTSVSGRIPPNVEKSIKKEMAQYASNITSVLCQFPSQQIANILDSHAATLNRKSEREV
FFMNTQSIVQLVQRYRSGIRGHMKAVVMDLLRQYLRVETQFQNGHYDKCVFALREENKSD
MNTVLNYIFSHAQVTKKNLLVTMLIDQLCGRDPTLTDELLNILTELTQLSKTTNAKVALR
ARQVLIASHLPSYELRHNQVESIFLSAIDMYGHQFCIENLQKLILSETSIFDVLPNFFYH
SNQVVRMAALEVYVRRAYIAYELNSVQHRQLKDNTCVVEFQFMLPTSHPNRGNIPTLNRM
SFSSNLNHYGMTHVASVSDVLLDNSFTPPCQRMGGMVSFRTFEDFVRIFDEVMGCFSDSP
PQSPTFPEAGHTSLYDEDKVPRDEPIHILNVAIKTDCDIEDDRLAAMFREFTQQNKATLV
DHGIRRLTFLVAQKDFRKQVNYEVDRRFHREFPKFFTFRARDKFEEDRIYRHLEPALAFQ
LELNRMRNFDLTAIPCANHKMHLYLGAAKVEVGTEVTDYRFFVRAIIRHSDLVTKEASFE
YLQNEGERLLLEAMDELEVAFNNTNVRTDCNHIFLNFVPTVIMDPSKIEESVRSMVMRYG
SRLWKLRVLQAELKINIRLTPTGKAIPIRLFLTNESGYYLDISLYKEVTDSRTAQIMFQA
YGDKQGPLH
GMLINTPYVTKDLLQSKRFQAQSLGTTYIYDIPEMFRQSLIKLWESMSTQA
FLPSPPLPSDMLTYTELVLDDQGQLVHMNRLPGGNEIGMVAWKMTFKSPEYPEGRDIIVI
GNDITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVD
PEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVEDEGESRYKITDIIGKEEGIGPENLRGS
GMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGR
EVYTSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPID
RIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSGFFDYGSFSEIMQPWAQTVVVGRARLGG
IPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPL
MVFANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSI
NPRHMEMYADRESRGSVLEPEGTVEIKFRRKDLVKTMRRVDPVYIHLAERLGTPELSTAE
RKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLR
RLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTE
EDGVHSVIEENIKCISRDYVLKQIRSLVQANPEVAMDSIIHMTQHISPTQRAEVIRILST
MDSPST
Sequence length 2346
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fatty acid biosynthesis
Pyruvate metabolism
Propanoate metabolism
Metabolic pathways
Fatty acid metabolism
AMPK signaling pathway
Insulin signaling pathway
Glucagon signaling pathway
Alcoholic liver disease
  ChREBP activates metabolic gene expression
Biotin transport and metabolism
Carnitine metabolism
Activation of gene expression by SREBF (SREBP)
Defective HLCS causes multiple carboxylase deficiency
Fatty acyl-CoA biosynthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166
View all (81 more)
Unknown
Disease term Disease name Evidence References Source
Acetyl-coa carboxylase deficiency Acetyl-CoA: carboxylase deficiency ClinVar
Celiac disease Celiac Disease, Celiac disease 24999842 ClinVar, GWAS
Congestive heart failure Congestive heart failure 26670611 ClinVar
Heart failure Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided 26670611 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
46 Xy Gonadal Dysgenesis Partial With Minifascicular Neuropathy Stimulate 28125642
Alzheimer Disease Associate 22982105
Breast Neoplasms Associate 17157792, 17631500, 18056116, 26632252, 27506935
Carcinogenesis Associate 35449157
Carcinoma Adenoid Cystic Associate 35032368
Carcinoma Hepatocellular Associate 25735330, 25826294, 30841449, 34311471, 34981667, 35449157, 36456877, 40389832
Carcinoma Pancreatic Ductal Associate 23159620
Carcinoma Renal Cell Associate 28984208
Cataract Associate 37511188
Central Nervous System Diseases Associate 35633176