• Gene id: 47

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 acety
• OMIM: 108728

SNPs

rs397515414

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

NC_000016.10   g.71137272T>A
NC_000016.9   g.71171175T>A
NG_033116.2   g.98451A>T
NM_017558.5   c.922A>T
NM_017558.4   c.922A>T
NM_001270974.2   c.922A>T
NM_001270974.1   c.922A>T
NM_001198542.1   c.1003A>T
NM_001198543.1   c.973A>T
XM_006721206.3   c.973A>T
XM_01152314  

rs397515413

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

NC_000016.10   g.70988133C>A
NC_000016.9   g.71022036C>A
NG_033116.2   g.247590G>T
NM_001270974.2   c.3985G>T
NM_001270974.1   c.3985G>T
XM_006721206.3   c.4036G>T
XM_011523146.2   c.4168G>T
XM_017023346.2   c.4105G>T
XM_011523151.2   c.4066G>T
XM_011523148.1   c.4087G>

rs28362491

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

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

rs13265504

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

NC_000008.11   g.3674977G>A
NC_000008.11   g.3674977G>C
NC_000008.11   g.3674977G>T
NC_000008.10   g.3532499G>A
NC_000008.10   g.3532499G>C
NC_000008.10   g.3532499G>T|SEQ=[G/A/C/T]|GENE=CSMD1

rs12286075

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

NC_000011.10   g.20937248T>C
NC_000011.9   g.20958794T>C
NG_047064.1   g.272698T>C|SEQ=[T/C]|GENE=NELL1

rs7106789

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

NC_000011.10   g.21548178T>C
NC_000011.9   g.21569724T>C
NG_047064.1   g.883628T>C|SEQ=[T/C]|GENE=NELL1

rs2070565

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

NC_000021.9   g.44261270T>C
NC_000021.8   g.45681153T>C|SEQ=[T/C]|GENE=DNMT3L

rs2276248

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

NC_000021.9   g.44259375T>C
NC_000021.8   g.45679258T>C|SEQ=[T/C]|GENE=DNMT3L

rs7354779

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

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

rs10848911

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

NC_000012.12   g.3705072G>A
NC_000012.12   g.3705072G>T
NC_000012.11   g.3814238G>A
NC_000012.11   g.3814238G>T|SEQ=[G/A/T]|GENE=CRACR2A

rs2267437

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

NC_000022.11   g.41620695C>A
NC_000022.11   g.41620695C>G
NC_000022.10   g.42016699C>A
NC_000022.10   g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6
DESI1   27351

rs6080550

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

NC_000020.11   g.1778944C>G
NC_000020.11   g.1778944C>T
NC_000020.10   g.1759590C>G
NC_000020.10   g.1759590C>T|SEQ=[C/G/T]|GENE=LOC100289473

rs4938723

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

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

rs696

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

NC_000014.9   g.35401887C>G
NC_000014.9   g.35401887C>T
NC_000014.8   g.35871093C>G
NC_000014.8   g.35871093C>T
NG_007571.1   g.7852G>C
NG_007571.1   g.7852G>A
NM_020529.3   c.*126G>C
NM_020529.3   c.*126G>A
NM_020529.2   c.*126G>C
NM_020529.2   c.*126G>A|SEQ=[C/G/T]|GE

rs3814309

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

NC_000001.11   g.109734781T>C
NC_000001.10   g.110277403T>C
NM_000849.4   c.*2290A>G
NM_000849.5   c.*2290A>G
NR_024537.1   n.3202A>G|SEQ=[T/C]|GENE=GSTM3

rs1571858

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

NC_000001.11   g.109737292C>A
NC_000001.11   g.109737292C>G
NC_000001.11   g.109737292C>T
NC_000001.10   g.110279914C>A
NC_000001.10   g.110279914C>G
NC_000001.10   g.110279914C>T|SEQ=[C/A/G/T]|GENE=GSTM3

rs13181

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

NC_000019.10   g.45351661T>A
NC_000019.10   g.45351661T>G
NC_000019.9   g.45854919T>A
NC_000019.9   g.45854919T>G
NG_007067.2   g.23927A>T
NG_007067.2   g.23927A>C
NM_000400.4   c.2251A>T
NM_000400.4   c.2251A>C
NM_000400.3   c.2251A>T
NM_000400.3   c.2251A>C
XM_0115266  

rs189037

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

NC_000011.10   g.108223106G>A
NC_000011.9   g.108093833G>A
NG_009830.1   g.5275G>A
NM_000051.4   c.-111G>A
NM_000051.3   c.-111G>A
NM_001351834.2   c.-199G>A
NM_001351834.1   c.-199G>A
NM_001351835.1   c.-111G>A
XM_011542844.3   c.-1133G>A
XM_011542842.3   c.-111G>A
XM_  

rs11857513

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

NC_000015.10   g.50497226G>A
NC_000015.10   g.50497226G>C
NC_000015.9   g.50789423G>A
NC_000015.9   g.50789423G>C
NG_047101.1   g.77850G>A
NG_047101.1   g.77850G>C
NM_001128610.2   c.3033G>A
NM_001128610.2   c.3033G>C
NM_001128610.3   c.3033G>A
NM_001128610.3   c.3033G>

rs1057868

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

NC_000007.14   g.75985688C>T
NC_000007.13   g.75615006C>T
NG_008930.1   g.75587C>T
NM_000941.3   c.1508C>T
NM_000941.2   c.1508C>T
NM_001367562.1   c.1508C>T
NW_003871064.1   g.3514924C>T
NP_000932.3   p.Ala503Val
NP_001354491.1   p.Ala503Val|SEQ=[C/T]|GENE=POR

rs1057870

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

NC_000007.14   g.75985969G>A
NC_000007.13   g.75615287G>A
NG_008930.1   g.75868G>A
NM_000941.3   c.1716G>A
NM_000941.2   c.1716G>A
NM_001367562.1   c.1716G>A
NW_003871064.1   g.3515205G>A|SEQ=[G/A]|GENE=POR

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: 120839
• Sequence:

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

• Structural information:
  • Protein Domains: (4..26-)
    (/note="ATP-grasp"-)
  • Interpro: IPR014608  IPR017440  IPR032263  IPR016143  IPR002020   IPR036969  IPR033847  IPR003781  IPR005811  IPR036291  IPR017866  IPR016102  
  • Prosite: PS01216 PS00399 PS01217
  • PDB: 3MWD 3MWE 3PFF 5TDE 5TDF 5TDM 5TDZ 5TE1 5TEQ 5TES 5TET 6HXH 6HXK 6HXL 6HXM 6O0H 6POE 6POF 6QFB 6UI9 6UIA 6UUW 6UUZ 6UV5
  • PDBsum: 3MWD 3MWE 3PFF 5TDE 5TDF 5TDM 5TDZ 5TE1 5TEQ 5TES 5TET 6HXH 6HXK 6HXL 6HXM 6O0H 6POE 6POF 6QFB 6UI9 6UIA 6UUW 6UUZ 6UV5
  • STRING: ENSP00000253792
• Other Databases: GeneCards:  ACLY  Malacards:  ACLY

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006085	acetyl-CoA biosynthetic process	IBA	biological process
GO:0003878	ATP citrate synthase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0006633	fatty acid biosynthetic process	IBA	biological process
GO:0008610	lipid biosynthetic process	IDA	biological process
GO:0003878	ATP citrate synthase activity	IDA	molecular function
GO:0003878	ATP citrate synthase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0003878	ATP citrate synthase activity	IDA	molecular function
GO:0003878	ATP citrate synthase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003878	ATP citrate synthase activity	IEA	molecular function
GO:0006101	citrate metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0006085	acetyl-CoA biosynthetic process	IEA	biological process
GO:0046912	transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003878	ATP citrate synthase activity	IEA	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0046949	fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	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:0035578	azurophil granule lumen	TAS	cellular component
GO:0015936	coenzyme A metabolic process	TAS	biological process
GO:0003878	ATP citrate synthase activity	IDA	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0006085	acetyl-CoA biosynthetic process	IDA	biological process
GO:0006107	oxaloacetate metabolic process	IDA	biological process
GO:0006101	citrate metabolic process	IDA	biological process
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00020	Citrate cycle

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq