• Gene id: 31

Gene Summary

• Gene Symbol: ACACA   Gene   UCSC   Ensembl
• Aliases: ACAC, ACACAD, ACC, ACC1, ACCA
• Gene name: acetyl-CoA carboxylase alpha
• Alternate names: acetyl-CoA carboxylase 1, ACC-alpha, acetyl-Coenzyme A carboxylase alpha,
• Gene location: 17q12 (37406835: 37084991)     Exons: 63     NC_000017.11
• 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. There are two ACC forms, alpha and b
• OMIM: 611464

SNPs

rs606231461

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

NC_000015.10   g.51481268_51481282del
NC_000015.9   g.51773465_51773479del
NG_017155.1   g.146492_146506del
NM_015263.3   c.5827_5841del
NM_015263.4   c.5827_5841del
NM_001174116.1   c.5827_5841del
NM_001174116.2   c.5827_5841del
NM_001174117.1   c.3919_3933del
NM_0  

rs121918300

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

NC_000007.14   g.37888306T>A
NC_000007.14   g.37888306T>C
NC_000007.13   g.37927908T>A
NC_000007.13   g.37927908T>C
NG_015893.1   g.44710T>A
NG_015893.1   g.44710T>C
NM_016616.4   c.1277T>A
NM_016616.4   c.1277T>C
NM_016616.5   c.1277T>A
NM_016616.5   c.1277T>C
NP_05770  

rs117149381

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

NC_000007.14   g.37862001C>T
NC_000007.13   g.37901603C>T
NG_015893.1   g.18405C>T|SEQ=[C/T]|GENE=NME8

rs17088625

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

NC_000008.11   g.22790337T>C
NC_000008.10   g.22647850T>C|SEQ=[T/C]|GENE=PEBP4

rs11204546

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

NC_000001.11   g.247896410T>A
NC_000001.11   g.247896410T>C
NC_000001.11   g.247896410T>G
NC_000001.10   g.248059712T>A
NC_000001.10   g.248059712T>C
NC_000001.10   g.248059712T>G
NG_053132.1   g.5824T>A
NG_053132.1   g.5824T>C
NG_053132.1   g.5824T>G
NM_001001957.2   c

rs6103330

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

NC_000020.11   g.43458814T>A
NC_000020.11   g.43458814T>C
NC_000020.11   g.43458814T>G
NC_000020.10   g.42087454T>A
NC_000020.10   g.42087454T>C
NC_000020.10   g.42087454T>G
NG_029906.1   g.5951T>A
NG_029906.1   g.5951T>C
NG_029906.1   g.5951T>G|SEQ=[T/A/C/G]|GENE=SRS

rs4997052

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

NC_000006.12   g.31356367T>A
NC_000006.12   g.31356367T>G
NC_000006.11   g.31324144T>A
NC_000006.11   g.31324144T>G
NG_023187.1   g.5846A>T
NG_023187.1   g.5846A>C
NM_005514.8   c.419A>T
NM_005514.8   c.419A>C
NM_005514.7   c.419A>T
NM_005514.7   c.419A>C
NM_005514.6   c.

rs3918242

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

NC_000020.11   g.46007337C>T
NC_000020.10   g.44635976C>T
NG_011468.1   g.3430C>T|SEQ=[C/T]|GENE=MMP9

rs3129878

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

NC_000006.12   g.32440958A>C
NC_000006.11   g.32408735A>C
NT_113891.3   g.3879082C>A
NT_113891.2   g.3879188C>A
NG_002392.2   g.5293C>A
NT_167248.2   g.3664005A>C
NT_167248.1   g.3669601A>C
NT_167245.2   g.3681261A>C
NT_167245.1   g.3686846A>C
NT_167249.2   g.3756099A>C

rs12348

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

NC_000009.12   g.25677217T>C
NC_000009.12   g.25677217T>G
NC_000009.11   g.25677215T>C
NC_000009.11   g.25677215T>G
NG_012031.1   g.6642A>G
NG_012031.1   g.6642A>C
NM_001004125.2   c.*466A>G
NM_001004125.2   c.*466A>C|SEQ=[T/C/G]|GENE=TUSC1

rs4680

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

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

rs36065902

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

NC_000017.11   g.41841870A>T
NW_003571052.1   g.128512A>T
NG_051246.1   g.11186A>T
NM_152467.5   c.242A>T
NM_152467.4   c.242A>T
NM_152467.3   c.242A>T
NM_001329596.2   c.-23A>T
NM_001329596.1   c.-23A>T
NM_001329595.1   c.242A>T
NC_000017.10   g.39998122A>T
NP_689680.2  

rs61752339

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

NC_000017.11   g.41845328T>C
NW_003571052.1   g.131970T>C
NG_051246.1   g.14644T>C
NM_152467.5   c.887T>C
NM_152467.4   c.887T>C
NM_152467.3   c.887T>C
NM_001329596.2   c.623T>C
NM_001329596.1   c.623T>C
NM_001329595.1   c.887T>C
NC_000017.10   g.40001580T>C
NP_689680.2  

rs11763979

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

NC_000007.14   g.141762737G>A
NC_000007.14   g.141762737G>T
NC_000007.13   g.141462537G>A
NC_000007.13   g.141462537G>T|SEQ=[G/A/T]|GENE=TAS2R3

rs7194

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

NC_000006.12   g.32444703G>A
NC_000006.12   g.32444703G>C
NC_000006.11   g.32412480G>A
NC_000006.11   g.32412480G>C
NT_113891.3   g.3882792G>A
NT_113891.3   g.3882792G>C
NT_113891.2   g.3882898G>A
NT_113891.2   g.3882898G>C
NG_002392.2   g.9003G>A
NG_002392.2   g.9003G>

rs370681

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

NC_000016.10   g.342461C>T
NC_000016.9   g.392461C>T
NG_012267.1   g.15004G>A|SEQ=[C/T]|GENE=AXIN1

rs1805105

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

NC_000016.10   g.346264A>G
NC_000016.9   g.396264A>G
NG_012267.1   g.11201T>C
NM_003502.4   c.762T>C
NM_003502.3   c.762T>C
NM_181050.3   c.762T>C
NM_181050.2   c.762T>C
NR_134879.2   n.1198T>C
NR_134879.1   n.1151T>C
XM_011522682.2   c.909T>C
XM_011522683.2   c.909T>C
XM  

rs2291102

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

NC_000010.11   g.3148507G>A
NC_000010.10   g.3190699G>A
NG_052908.1   g.29335C>T
NR_038284.1   n.3954G>A|SEQ=[G/A]|GENE=PITRM1
PITRM1-AS1   100507034

Protein Summary

• Protein general information: Q13085  
  • Name: Acetyl CoA carboxylase 1 (ACC1) (EC 6.4.1.2) (Acetyl Coenzyme A carboxylase alpha) (ACC alpha)
  • Length: 2346  
  • Mass: 265554
  • 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:

  MDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGISSLQDGLALHI
  RSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERA
  IRFVVMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKN
  GIAFMGPPSQAMWALGDKIASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQA
  AEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLFRQVQAEVPGSPIFVMRLAKQSRHLEVQILADQYGNAISLFG
  RDCSVQRRHQKIIEEAPATIATPAVFEHMEQCAVKLAKMVGYVSAGTVEYLYSQDGSFYFLELNPRLQVEHPCTE
  MVADVNLPAAQLQIAMGIPLYRIKDIRMMYGVSPWGDSPIDFEDSAHVPCPRGHVIAARITSENPDEGFKPSSGT
  VQELNFRSNKNVWGYFSVAAAGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLIKLLET
  ESFQMNRIDTGWLDRLIAEKVQAERPDTMLGVVCGALHVADVSLRNSVSNFLHSLERGQVLPAHTLLNTVDVELI
  YEGVKYVLKVTRQSPNSYVVIMNGSCVEVDVHRLSDGGLLLSYDGSSYTTYMKEEVDRYRITIGNKTCVFEKEND
  PSVMRSPSAGKLIQYIVEDGGHVFAGQCYAEIEVMKMVMTLTAVESGCIHYVKRPGAALDPGCVLAKMQLDNPSK
  VQQAELHTGSLPRIQSTALRGEKLHRVFHYVLDNLVNVMNGYCLPDPFFSSKVKDWVERLMKTLRDPSLPLLELQ
  DIMTSVSGRIPPNVEKSIKKEMAQYASNITSVLCQFPSQQIANILDSHAATLNRKSEREVFFMNTQSIVQLVQRY
  RSGIRGHMKAVVMDLLRQYLRVETQFQNGHYDKCVFALREENKSDMNTVLNYIFSHAQVTKKNLLVTMLIDQLCG
  RDPTLTDELLNILTELTQLSKTTNAKVALRARQVLIASHLPSYELRHNQVESIFLSAIDMYGHQFCIENLQKLIL
  SETSIFDVLPNFFYHSNQVVRMAALEVYVRRAYIAYELNSVQHRQLKDNTCVVEFQFMLPTSHPNRGNIPTLNRM
  SFSSNLNHYGMTHVASVSDVLLDNSFTPPCQRMGGMVSFRTFEDFVRIFDEVMGCFSDSPPQSPTFPEAGHTSLY
  DEDKVPRDEPIHILNVAIKTDCDIEDDRLAAMFREFTQQNKATLVDHGIRRLTFLVAQKDFRKQVNYEVDRRFHR
  EFPKFFTFRARDKFEEDRIYRHLEPALAFQLELNRMRNFDLTAIPCANHKMHLYLGAAKVEVGTEVTDYRFFVRA
  IIRHSDLVTKEASFEYLQNEGERLLLEAMDELEVAFNNTNVRTDCNHIFLNFVPTVIMDPSKIEESVRSMVMRYG
  SRLWKLRVLQAELKINIRLTPTGKAIPIRLFLTNESGYYLDISLYKEVTDSRTAQIMFQAYGDKQGPLHGMLINT
  PYVTKDLLQSKRFQAQSLGTTYIYDIPEMFRQSLIKLWESMSTQAFLPSPPLPSDMLTYTELVLDDQGQLVHMNR
  LPGGNEIGMVAWKMTFKSPEYPEGRDIIVIGNDITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIG
  LAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVEDEGESRYKITDIIGKEEGIGPENLRGS
  GMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVYTSNNQLGGIQIM
  HNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQW
  LSGFFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFK
  TYQAIKDFNREGLPLMVFANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSI
  NPRHMEMYADRESRGSVLEPEGTVEIKFRRKDLVKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFL
  IPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLLLEDLVKKKIHNANPELTDGQIQAMLRR
  WFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPEVAMDSIIHMTQH
  ISPTQRAEVIRILSTMDSPST

• Structural information:
  • Protein Domains: (117..61-)
    (/note="Biotin-carboxylation)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00969-)
    (275..46-)
    (/note="ATP-grasp-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00409-)
    (745..81-)
    (/note="Biotinyl-binding-)
    (/evidence="ECO:0000255|-)
  • Interpro: IPR034733  IPR013537  IPR011761  IPR013815  IPR005481   IPR001882  IPR011764  IPR005482  IPR000089  IPR005479  IPR029045  IPR011763  IPR011762  IPR016185  IPR011054  IPR011053  
  • Prosite: PS50975 PS50979 PS00188 PS50968 PS50989 PS50980 PS00866 PS00867
  • PDB: 2YL2 3COJ 4ASI 6G2D 6G2H 6G2I
  • PDBsum: 2YL2 3COJ 4ASI 6G2D 6G2H 6G2I
  • DIP: 36122
  • STRING: ENSP00000483300
• Other Databases: GeneCards:  ACACA  Malacards:  ACACA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006633	fatty acid biosynthetic process	IC	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:0051289	protein homotetramerization	ISS	biological process
GO:0051289	protein homotetramerization	ISS	biological process
GO:0006633	fatty acid biosynthetic process	ISS	biological process
GO:0006084	acetyl-CoA metabolic process	ISS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003989	acetyl-CoA carboxylase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0046872	metal ion binding	IEA	molecular function
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0003989	acetyl-CoA carboxylase activity	TAS	molecular function
GO:0003989	acetyl-CoA carboxylase activity	IEA	molecular function
GO:0003989	acetyl-CoA carboxylase activity	TAS	molecular function
GO:0006853	carnitine shuttle	TAS	biological process
GO:0046949	fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055088	lipid homeostasis	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0003989	acetyl-CoA carboxylase activity	IEA	molecular function
GO:0001894	tissue homeostasis	IEA	biological process
GO:0071380	cellular response to prostaglandin E stimulus	IEA	biological process
GO:0051289	protein homotetramerization	IEA	biological process
GO:0019538	protein metabolic process	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0006084	acetyl-CoA metabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:2001295	malonyl-CoA biosynthetic process	IEA	biological process
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
hsa01212	Fatty acid metabolism
hsa00620	Pyruvate metabolism
hsa00640	Propanoate metabolism
hsa00061	Fatty acid biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq