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Gene id

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

ACLY Gene UCSC Ensembl

Aliases

ACL, ATPCL, CLATP

Gene name

ATP citrate lyase

Alternate names

ATP-citrate synthase, ATP-citrate (pro-S-)-lyase, citrate cleavage enzyme,

Gene location

17q21.2 (41930541: 41866915) Exons: 30 NC_000017.11

Gene summary(Entrez)

ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]

OMIM

108728

SNPs

rs28362491

Strand:    Allele origin:   Allele change: -/ATTG   Mutation type: in-del

CM000666.2   g.102500998_102501001delATTG
NC_000004.11   g.103422155_103422158delATTG
NC_000004.12   g.102500998_102501001delATTG
NG_050628.1   g.4670_4673delATTG
NM_001165412.1   c.-798_-795delATTG
NM_001319226.1   c.-1177_-1174delATTG
NM_003998.3   c.-798_-795delATTG
NR_136202.1   n.48+1438_48+1441delCAAT
rs2276248

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000021.9   g.44259375T>C
NC_000021.8   g.45679258T>C
NM_013369.3   c.344+62A>G
NM_175867.2   c.344+62A>G
rs7354779

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000021.8   g.45670770T>C
NC_000021.9   g.44250887T>C
NM_013369.3   c.832A>G
NR_135514.1   n.75T>C
NP_787063.1   p.Arg278Gly
NP_037501.2   p.Arg278Gly
NM_175867.2   c.832A>G
rs8129776

Strand: +   Allele origin: unknown  Allele change: A/G   Mutation type: snp


NC_000021.9   g.44249746G>A
NC_000021.8   g.45669629G>A
NM_013369.3   c.910-635C>T
NR_135514.1   n.-1067G>A
NM_175867.2   c.910-635C>T

Protein Summary

Protein general information

P53396

Name: ATP citrate synthase (EC 2.3.3.8) (ATP citrate (pro S ) lyase) (ACL) (Citrate cleavage enzyme)

Length: 1101 Mass: 120,839

Sequence

MSAKAISEQTGKELLYKFICTTSAIQNRFKYARVTPDTDWARLLQDHPWLLSQNLVVKPDQLIKRRGKLGLVGVN
LTLDGVKSWLKPRLGQEATVGKATGFLKNFLIEPFVPHSQAEEFYVCIYATREGDYVLFHHEGGVDVGDVDAKAQ
KLLVGVDEKLNPEDIKKHLLVHAPEDKKEILASFISGLFNFYEDLYFTYLEINPLVVTKDGVYVLDLAAKVDATA
DYICKVKWGDIEFPPPFGREAYPEEAYIADLDAKSGASLKLTLLNPKGRIWTMVAGGGASVVYSDTICDLGGVNE
LANYGEYSGAPSEQQTYDYAKTILSLMTREKHPDGKILIIGGSIANFTNVAATFKGIVRAIRDYQGPLKEHEVTI
FVRRGGPNYQEGLRVMGEVGKTTGIPIHVFGTETHMTAIVGMALGHRPIPNQPPTAAHTANFLLNASGSTSTPAP
SRTASFSESRADEVAPAKKAKPAMPQDSVPSPRSLQGKSTTLFSRHTKAIVWGMQTRAVQGMLDFDYVCSRDEPS
VAAMVYPFTGDHKQKFYWGHKEILIPVFKNMADAMRKHPEVDVLINFASLRSAYDSTMETMNYAQIRTIAIIAEG
IPEALTRKLIKKADQKGVTIIGPATVGGIKPGCFKIGNTGGMLDNILASKLYRPGSVAYVSRSGGMSNELNNIIS
RTTDGVYEGVAIGGDRYPGSTFMDHVLRYQDTPGVKMIVVLGEIGGTEEYKICRGIKEGRLTKPIVCWCIGTCAT
MFSSEVQFGHAGACANQASETAVAKNQALKEAGVFVPRSFDELGEIIQSVYEDLVANGVIVPAQEVPPPTVPMDY
SWARELGLIRKPASFMTSICDERGQELIYAGMPITEVFKEEMGIGGVLGLLWFQKRLPKYSCQFIEMCLMVTADH
GPAVSGAHNTIICARAGKDLVSSLTSGLLTIGDRFGGALDAAAKMFSKAFDSGIIPMEFVNKMKKEGKLIMGIGH
RVKSINNPDMRVQILKDYVRQHFPATPLLDYALEVEKITTSKKPNLILNVDGLIGVAFVDMLRNCGSFTREEADE
YIDIGALNGIFVLGRSMGFIGHYLDQKRLKQGLYRHPWDDISYVLPEHMSM

Structural information

Protein Domains	ATP-grasp. (4-265)
Interpro:	IPR014608 IPR017440 IPR032263 IPR016142 IPR016143 IPR002020 IPR033847 IPR003781 IPR005811 IPR016040 IPR017866 IPR016102
Prosite:	PS01216 PS00399 PS01217
Pfam:	PF16114 PF00285 PF02629 PF00549
PDB:	3MWD 3MWE 3PFF
PDBsum:	3MWD 3MWE 3PFF
MINT:	3019895
STRING:	ENSP00000253792;

Other Databases

GeneCards: ACLY; Malacards: ACLY

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003878	ATP citrate synthase acti vity	IDA	molecular_function
GO:0003878	ATP citrate synthase acti vity	TAS	molecular_function
GO:0003878	ATP citrate synthase acti vity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	TAS	molecular_function
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006085	acetyl-CoA biosynthetic p rocess	IDA	biological_process
GO:0006101	citrate metabolic process	IDA	biological_process
GO:0006107	oxaloacetate metabolic pr ocess	IDA	biological_process
GO:0006633	fatty acid biosynthetic p rocess	IEA	biological_process
GO:0006695	cholesterol biosynthetic process	TAS	biological_process
GO:0008610	lipid biosynthetic proces s	IDA	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0031325	positive regulation of ce llular metabolic process	TAS	biological_process
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	TAS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048037	cofactor binding	IEA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0003824	catalytic activity	IEA	molecular_function
GO:0003878	ATP citrate synthase acti vity	IEA	molecular_function
GO:0003878	ATP citrate synthase acti vity	IEA	molecular_function
GO:0003878	ATP citrate synthase acti vity	IEA	molecular_function
GO:0003878	ATP citrate synthase acti vity	IDA	molecular_function
GO:0003878	ATP citrate synthase acti vity	TAS	molecular_function
GO:0003878	ATP citrate synthase acti vity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	TAS	molecular_function
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006084	acetyl-CoA metabolic proc ess	IEA	biological_process
GO:0006085	acetyl-CoA biosynthetic p rocess	IEA	biological_process
GO:0006085	acetyl-CoA biosynthetic p rocess	IDA	biological_process
GO:0006101	citrate metabolic process	IEA	biological_process
GO:0006101	citrate metabolic process	IEA	biological_process
GO:0006101	citrate metabolic process	IDA	biological_process
GO:0006107	oxaloacetate metabolic pr ocess	IDA	biological_process
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006633	fatty acid biosynthetic p rocess	IEA	biological_process
GO:0006695	cholesterol biosynthetic process	TAS	biological_process
GO:0008152	metabolic process	IEA	biological_process
GO:0008610	lipid biosynthetic proces s	IDA	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0016740	transferase activity	IEA	molecular_function
GO:0031325	positive regulation of ce llular metabolic process	TAS	biological_process
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	TAS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046912	transferase activity, tra nsferring acyl groups, ac yl groups converted into alkyl on transfer	IEA	molecular_function
GO:0048037	cofactor binding	IEA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0003878	ATP citrate synthase acti vity	IDA	molecular_function
GO:0003878	ATP citrate synthase acti vity	TAS	molecular_function
GO:0003878	ATP citrate synthase acti vity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	TAS	molecular_function
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006085	acetyl-CoA biosynthetic p rocess	IDA	biological_process
GO:0006101	citrate metabolic process	IDA	biological_process
GO:0006107	oxaloacetate metabolic pr ocess	IDA	biological_process
GO:0006695	cholesterol biosynthetic process	TAS	biological_process
GO:0008610	lipid biosynthetic proces s	IDA	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0031325	positive regulation of ce llular metabolic process	TAS	biological_process
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

KEGG pathways

hsa01100 Metabolic pathways
hsa00020 Citrate cycle

Diseases

Associated diseases	References
Endometriosis	PMID: 19230253
Pelvic endometriosis	PMID: 9436699
Pelvic endometriosis	PMID: 9436699
Endometriosis	INFBASE19230253
Pelvic endometriosis	INFBASE9436699

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19230253	Endometrio sis			50 (15 women wi thout endometri osis, as confir med by laparosc opy (group A), 35 patients wit h pelvic endome triosis)		Ca 125 II C-reactive protein (CRP) serum amyloid A (SAA) anticardiolipin antibody (aCL)	Show abstract
9436699	Endometrio sis (pelvi c)			50 (15 women wi thout endometri osis, as confir med by laparosc opy (group A), 35 patients wit h pelvic endome triosis diagnos ed by laparosco py or laparotom y (group B))		CRP CA 125 II SAA Acl	Show abstract