• Gene id: 32

Gene Summary

• Gene Symbol: ACACB   Gene   UCSC   Ensembl
• Aliases: ACC2, ACCB, HACC275
• Gene name: acetyl-CoA carboxylase beta
• Alternate names: acetyl-CoA carboxylase 2, ACC-beta, acetyl-Coenzyme A carboxylase beta,
• Gene location: 12q24.11 (109112665: 109268225)     Exons: 56     NC_000012.12
• Gene summary(Entrez): 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 fat
• OMIM: 603491

SNPs

rs886041025

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985782G>C
NC_000020.10   g.31573588G>C
NG_054760.1   g.23668C>G
NM_080675.4   c.851C>G
NM_080675.3   c.851C>G
XM_011528573.1   c.920C>G
XM_011528574.1   c.776C>G
XM_011528575.1   c.581C>G
NP_542406.2   p.Ser284Ter
XP_011526875.1   p.Ser307Ter
XP_01152  

rs886041024

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985852C>T
NC_000020.10   g.31573658C>T
NG_054760.1   g.23598G>A
NM_080675.4   c.781G>A
NM_080675.3   c.781G>A
XM_011528573.1   c.850G>A
XM_011528574.1   c.706G>A
XM_011528575.1   c.511G>A
NP_542406.2   p.Val261Met
XP_011526875.1   p.Val284Met
XP_01152  

rs886041023

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32995668A>G
NC_000020.11   g.32995668A>T
NC_000020.10   g.31583474A>G
NC_000020.10   g.31583474A>T
NG_054760.1   g.13782T>C
NG_054760.1   g.13782T>A
NM_080675.4   c.485T>C
NM_080675.4   c.485T>A
NM_080675.3   c.485T>C
NM_080675.3   c.485T>A
XM_011528573  

rs781693813

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.32997649del
NC_000020.10   g.31585455del
NG_054760.1   g.11803del
NM_080675.4   c.381del
NM_080675.3   c.381del
XM_011528573.1   c.450del
XM_011528574.1   c.306del
XM_011528575.1   c.111del
XM_011528576.1   c.450del
NP_542406.2   p.Val128fs
XP_011526875  

rs756459525

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985809G>A
NC_000020.10   g.31573615G>A
NG_054760.1   g.23641C>T
NM_080675.4   c.824C>T
NM_080675.3   c.824C>T
XM_011528573.1   c.893C>T
XM_011528574.1   c.749C>T
XM_011528575.1   c.554C>T
NP_542406.2   p.Thr275Met
XP_011526875.1   p.Thr298Met
XP_01152  

rs754130052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32983868G>A
NC_000020.10   g.31571674G>A
NG_054760.1   g.25582C>T
NM_080675.4   c.1066C>T
NM_080675.3   c.1066C>T
XM_011528573.1   c.1135C>T
XM_011528574.1   c.991C>T
XM_011528575.1   c.796C>T
NP_542406.2   p.Arg356Cys
XP_011526875.1   p.Arg379Cys
XP_01  

rs11754464

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31755958C>T
NC_000006.11   g.31723735C>T
NG_011611.1   g.20962C>T
NT_113891.3   g.3233215C>T
NT_113891.2   g.3233321C>T
NT_167245.2   g.3003732C>T
NT_167245.1   g.3009317C>T
NT_167247.2   g.3097847C>T
NT_167247.1   g.3103432C>T
NT_167248.2   g.3011780C>

rs25640

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.119475838G>A
NC_000005.10   g.119475838G>C
NC_000005.9   g.118811533G>A
NC_000005.9   g.118811533G>C
NG_008182.1   g.28386G>A
NG_008182.1   g.28386G>C
NM_000414.4   c.317G>A
NM_000414.4   c.317G>C
NM_000414.3   c.317G>A
NM_000414.3   c.317G>C
NM_0011992  

rs11205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.119526018A>G
NC_000005.9   g.118861713A>G
NG_008182.1   g.78566A>G
NM_000414.4   c.1675A>G
NM_000414.3   c.1675A>G
NM_001199291.3   c.1750A>G
NM_001199291.2   c.1750A>G
NM_001199291.1   c.1750A>G
NM_001292028.2   c.1255A>G
NM_001292028.1   c.1255A>G
NM_  

rs28943594

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.119541965A>G
NC_000005.9   g.118877660A>G
NG_008182.1   g.94513A>G
NM_000414.4   c.2182A>G
NM_000414.3   c.2182A>G
NM_001199291.3   c.2257A>G
NM_001199291.2   c.2257A>G
NM_001199291.1   c.2257A>G
NM_001292028.2   c.1762A>G
NM_001292028.1   c.1762A>G
NM_  

rs7588620

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227534764T>A
NC_000002.12   g.227534764T>C
NC_000002.11   g.228399480T>A
NC_000002.11   g.228399480T>C|SEQ=[T/A/C]|GENE=AGFG1

rs13426422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227485023T>G
NC_000002.11   g.228349739T>G|SEQ=[T/G]|GENE=AGFG1

rs13382948

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227554241A>G
NC_000002.11   g.228418957A>G|SEQ=[A/G]|GENE=AGFG1

rs1801085

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27128971A>G
NC_000007.13   g.27168590A>G
NM_002141.4   c.*254T>C
NM_002141.5   c.*254T>C|SEQ=[A/G]|GENE=HOXA3
HOXA4   3201
HOXA-AS2   285943

rs10762738

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.76935709A>G
NC_000010.10   g.78695467A>G
NG_012270.1   g.707111T>C|SEQ=[A/G]|GENE=KCNMA1
KCNMA1-AS1   101929328

rs17747401

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.74640406C>T
NC_000010.10   g.76400164C>T
NG_030484.2   g.494222C>T
NG_030484.1   g.494222C>T|SEQ=[C/T]|GENE=ADK

rs2656927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

rs3779456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

rs6461992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27181212A>G
NC_000007.14   g.27181212A>T
NC_000007.13   g.27220831A>G
NC_000007.13   g.27220831A>T
NG_012079.1   g.9005T>C
NG_012079.1   g.9005T>A
NM_005523.6   c.*1584T>C
NM_005523.6   c.*1584T>A
NM_005523.5   c.*1584T>C
NM_005523.5   c.*1584T>A|SEQ=[A

rs605059

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

rs3212293

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

rs1799964

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs180113

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.69928988T>C
NC_000017.10   g.67925129T>C|SEQ=[T/C]

rs17167484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134371303T>G
NC_000005.9   g.133706994T>G
NG_042179.2   g.4745A>C
NG_046936.1   g.5128T>G
NM_003337.3   c.-293T>G
XM_017009544.2   c.-937A>C
XM_017009545.2   c.-742A>C
XM_024446086.1   c.-327A>C
XM_024446097.1   c.-729A>C
XM_024446096.1   c.-708A>C
XM_0  

rs3777373

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134391612A>G
NC_000005.9   g.133727303A>G
NG_046936.1   g.25437A>G
NM_003337.4   c.*1259A>G
NM_003337.3   c.*1259A>G
NM_003337.2   c.*1259A>G|SEQ=[A/G]|GENE=UBE2B

rs1545125

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.51083534A>G
NC_000007.13   g.51151231A>G
NG_051816.1   g.238328T>C|SEQ=[A/G]|GENE=COBL

Protein Summary

• Protein general information: O00763  
  • Name: Acetyl CoA carboxylase 2 (EC 6.4.1.2) (ACC beta)
  • Length: 2458  
  • Mass: 276541
  • Tissue specificity: Widely expressed with highest levels in heart, skeletal muscle, liver, adipose tissue, mammary gland, adrenal gland and colon (PubMed
• Sequence:

  MVLLLCLSCLIFSCLTFSWLKIWGKMTDSKPITKSKSEANLIPSQEPFPASDNSGETPQRNGEGHTLPKTPSQAE
  PASHKGPKDAGRRRNSLPPSHQKPPRNPLSSSDAAPSPELQANGTGTQGLEATDTNGLSSSARPQGQQAGSPSKE
  DKKQANIKRQLMTNFILGSFDDYSSDEDSVAGSSRESTRKGSRASLGALSLEAYLTTGEAETRVPTMRPSMSGLH
  LVKRGREHKKLDLHRDFTVASPAEFVTRFGGDRVIEKVLIANNGIAAVKCMRSIRRWAYEMFRNERAIRFVVMVT
  PEDLKANAEYIKMADHYVPVPGGPNNNNYANVELIVDIAKRIPVQAVWAGWGHASENPKLPELLCKNGVAFLGPP
  SEAMWALGDKIASTVVAQTLQVPTLPWSGSGLTVEWTEDDLQQGKRISVPEDVYDKGCVKDVDEGLEAAERIGFP
  LMIKASEGGGGKGIRKAESAEDFPILFRQVQSEIPGSPIFLMKLAQHARHLEVQILADQYGNAVSLFGRDCSIQR
  RHQKIVEEAPATIAPLAIFEFMEQCAIRLAKTVGYVSAGTVEYLYSQDGSFHFLELNPRLQVEHPCTEMIADVNL
  PAAQLQIAMGVPLHRLKDIRLLYGESPWGVTPISFETPSNPPLARGHVIAARITSENPDEGFKPSSGTVQELNFR
  SSKNVWGYFSVAATGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLINLLETESFQNND
  IDTGWLDYLIAEKVQAEKPDIMLGVVCGALNVADAMFRTCMTDFLHSLERGQVLPADSLLNLVDVELIYGGVKYI
  LKVARQSLTMFVLIMNGCHIEIDAHRLNDGGLLLSYNGNSYTTYMKEEVDSYRITIGNKTCVFEKENDPTVLRSP
  SAGKLTQYTVEDGGHVEAGSSYAEMEVMKMIMTLNVQERGRVKYIKRPGAVLEAGCVVARLELDDPSKVHPAEPF
  TGELPAQQTLPILGEKLHQVFHSVLENLTNVMSGFCLPEPVFSIKLKEWVQKLMMTLRHPSLPLLELQEIMTSVA
  GRIPAPVEKSVRRVMAQYASNITSVLCQFPSQQIATILDCHAATLQRKADREVFFINTQSIVQLVQRYRSGIRGY
  MKTVVLDLLRRYLRVEHHFQQAHYDKCVINLREQFKPDMSQVLDCIFSHAQVAKKNQLVIMLIDELCGPDPSLSD
  ELISILNELTQLSKSEHCKVALRARQILIASHLPSYELRHNQVESIFLSAIDMYGHQFCPENLKKLILSETTIFD
  VLPTFFYHANKVVCMASLEVYVRRGYIAYELNSLQHRQLPDGTCVVEFQFMLPSSHPNRMTVPISITNPDLLRHS
  TELFMDSGFSPLCQRMGAMVAFRRFEDFTRNFDEVISCFANVPKDTPLFSEARTSLYSEDDCKSLREEPIHILNV
  SIQCADHLEDEALVPILRTFVQSKKNILVDYGLRRITFLIAQEKEFPKFFTFRARDEFAEDRIYRHLEPALAFQL
  ELNRMRNFDLTAVPCANHKMHLYLGAAKVKEGVEVTDHRFFIRAIIRHSDLITKEASFEYLQNEGERLLLEAMDE
  LEVAFNNTSVRTDCNHIFLNFVPTVIMDPFKIEESVRYMVMRYGSRLWKLRVLQAEVKINIRQTTTGSAVPIRLF
  ITNESGYYLDISLYKEVTDSRSGNIMFHSFGNKQGPQHGMLINTPYVTKDLLQAKRFQAQTLGTTYIYDFPEMFR
  QALFKLWGSPDKYPKDILTYTELVLDSQGQLVEMNRLPGGNEVGMVAFKMRFKTQEYPEGRDVIVIGNDITFRIG
  SFGPGEDLLYLRASEMARAEGIPKIYVAANSGARIGMAEEIKHMFHVAWVDPEDPHKGFKYLYLTPQDYTRISSL
  NSVHCKHIEEGGESRYMITDIIGKDDGLGVENLRGSGMIAGESSLAYEEIVTISLVTCRAIGIGAYLVRLGQRVI
  QVENSHIILTGASALNKVLGREVYTSNNQLGGVQIMHYNGVSHITVPDDFEGVYTILEWLSYMPKDNHSPVPIIT
  PTDPIDREIEFLPSRAPYDPRWMLAGRPHPTLKGTWQSGFFDHGSFKEIMAPWAQTVVTGRARLGGIPVGVIAVE
  TRTVEVAVPADPANLDSEAKIIQQAGQVWFPDSAYKTAQAVKDFNREKLPLMIFANWRGFSGGMKDMYDQVLKFG
  AYIVDGLRQYKQPILIYIPPYAELRGGSWVVIDATINPLCIEMYADKESRGGVLEPEGTVEIKFRKKDLIKSMRR
  IDPAYKKLMEQLGEPDLSDKDRKDLEGRLKAREDLLLPIYHQVAVQFADFHDTPGRMLEKGVISDILEWKTARTF
  LYWRLRRLLLEDQVKQEILQASGELSHVHIQSMLRRWFVETEGAVKAYLWDNNQVVVQWLEQHWQAGDGPRSTIR
  ENITYLKHDSVLKTIRGLVEENPEVAVDCVIYLSQHISPAERAQVVHLLSTMDSPAST

• Structural information:
  • Protein Domains: (259..76-)
    (/note="Biotin-carboxylation)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00969-)
    (414..60-)
    (/note="ATP-grasp-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00409-)
    (888..96-)
    (/note="Biotinyl-binding-)
    (/evidence="ECO:0000255|-)
  • Interpro: IPR034733  IPR013537  IPR011761  IPR013815  IPR005481   IPR011764  IPR005482  IPR000089  IPR005479  IPR029045  IPR011763  IPR011762  IPR016185  IPR011054  IPR011053  
  • Prosite: PS50975 PS50979 PS50968 PS50989 PS50980 PS00866 PS00867
  • PDB: 2DN8 2HJW 2KCC 3FF6 3GID 3GLK 3JRW 3JRX 3TDC 4HQ6 5KKN
  • PDBsum: 2DN8 2HJW 2KCC 3FF6 3GID 3GLK 3JRW 3JRX 3TDC 4HQ6 5KKN
  • DIP: 51617
  • STRING: ENSP00000341044
• Other Databases: GeneCards:  ACACB  Malacards:  ACACB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2001295	malonyl-CoA biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003989	acetyl-CoA carboxylase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003989	acetyl-CoA carboxylase activity	IEA	molecular function
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0006853	carnitine shuttle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0031325	positive regulation of cellular metabolic process	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0050995	negative regulation of lipid catabolic process	IEA	biological process
GO:0009374	biotin binding	IEA	molecular function
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0003989	acetyl-CoA carboxylase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0010884	positive regulation of lipid storage	IEA	biological process
GO:0010906	regulation of glucose metabolic process	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0031999	negative regulation of fatty acid beta-oxidation	IEA	biological process
GO:0046322	negative regulation of fatty acid oxidation	IEA	biological process
GO:0060421	positive regulation of heart growth	IEA	biological process
GO:0097009	energy homeostasis	IEA	biological process
GO:2001295	malonyl-CoA biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0051289	protein homotetramerization	IDA	biological process
GO:0006084	acetyl-CoA metabolic process	IDA	biological process
GO:0003989	acetyl-CoA carboxylase activity	IDA	molecular function
GO:0003989	acetyl-CoA carboxylase activity	IDA	molecular function
GO:0003989	acetyl-CoA carboxylase activity	IDA	molecular function
GO:0003989	acetyl-CoA carboxylase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04910	Insulin signaling pathway
hsa04152	AMPK signaling pathway
hsa04922	Glucagon signaling pathway
hsa04931	Insulin resistance
hsa04920	Adipocytokine signaling pathway
hsa00620	Pyruvate metabolism
hsa00640	Propanoate metabolism
hsa00061	Fatty acid biosynthesis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq