• Gene id: 38

Gene Summary

• Gene Symbol: ACAT1   Gene   UCSC   Ensembl
• Aliases: ACAT, MAT, T2, THIL
• Gene name: acetyl-CoA acetyltransferase 1
• Alternate names: acetyl-CoA acetyltransferase, mitochondrial, acetoacetyl Coenzyme A thiolase, acetoacetyl-CoA thiolase, acetyl-Coenzyme A acetyltransferase 1, mitochondrial acetoacetyl-CoA thiolase, testicular tissue protein Li 198,
• Gene location: 11q22.3 (108116704: 108148821)     Exons: 17     NC_000011.10
• Gene summary(Entrez): This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism
• OMIM: 607809

SNPs

rs397515339

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

NC_000016.10   g.84170177dup
NC_000016.9   g.84203783dup
NG_021174.1   g.29919dup
NM_178452.6   c.1349dup
NM_178452.5   c.1349dup
NM_178452.4   c.1349dup
NM_001318756.1   c.641dup
XM_011522854.3   c.1397dup
XM_006721129.3   c.1349dup
XM_011522853.3   c.1397dup
XM_011522  

rs267607227

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

NC_000016.10   g.84154748T>C
NC_000016.10   g.84154748T>G
NC_000016.9   g.84188353T>C
NC_000016.9   g.84188353T>G
NG_021174.1   g.14489T>C
NG_021174.1   g.14489T>G
NM_178452.6   c.524T>C
NM_178452.6   c.524T>G
NM_178452.5   c.524T>C
NM_178452.5   c.524T>G
NM_178452.4   c.

rs267607225

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

NC_000016.10   g.84159744C>T
NC_000016.9   g.84193349C>T
NG_021174.1   g.19485C>T
NM_178452.6   c.811C>T
NM_178452.5   c.811C>T
NM_178452.4   c.811C>T
NM_001318756.1   c.55C>T
XM_011522854.3   c.811C>T
XM_006721129.3   c.811C>T
XM_011522853.3   c.811C>T
XM_011522855.3   c

rs12339229

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

NC_000009.12   g.28093234C>T
NC_000009.11   g.28093232C>T|SEQ=[C/T]|GENE=LINGO2

rs3819392

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

NC_000004.12   g.54660528G>A
NC_000004.11   g.55526694G>A
NG_007456.1   g.7534G>A|SEQ=[G/A]|GENE=KIT

rs2664155

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

NC_000019.10   g.50873774G>A
NC_000019.9   g.51377030G>A
NG_031984.1   g.5342G>A|SEQ=[G/A]|GENE=KLK2

rs35397110

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

NC_000023.11   g.133027131G>A
NC_000023.11   g.133027131G>T
NC_000023.10   g.132161159G>A
NC_000023.10   g.132161159G>T
NG_013268.1   g.6142C>T
NG_013268.1   g.6142C>A
NM_031907.2   c.1090C>T
NM_031907.2   c.1090C>A
NM_031907.1   c.1090C>T
NM_031907.1   c.1090C>A
XM_017  

rs508485

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

NC_000011.10   g.94621313C>T
NC_000011.9   g.94354479C>T
NM_152431.3   c.*321C>T
NM_152431.2   c.*321C>T|SEQ=[C/T]|GENE=PIWIL4
LOC105369438   105369438

rs5498

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

NC_000019.10   g.10285007A>G
NC_000019.9   g.10395683A>G
NG_012083.1   g.19167A>G
NM_000201.3   c.1405A>G
NM_000201.2   c.1405A>G
NG_007728.1   g.3034A>G
NP_000192.2   p.Lys469Glu|SEQ=[A/G]|GENE=ICAM1
ICAM4   3386

rs200847762

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

NC_000006.12   g.32129371G>A
NC_000006.11   g.32097148G>A
NG_033940.1   g.3870C>T
NT_113891.3   g.3567702G>A
NT_113891.2   g.3567808G>A
NT_167247.2   g.3471391G>A
NT_167247.1   g.3476976G>A
NT_167245.2   g.3370735G>A
NT_167245.1   g.3376320G>A
NM_022110.4   c.410C>T
NM_  

rs3134885

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

NC_000004.12   g.54701722A>C
NC_000004.11   g.55567888A>C
NG_007456.1   g.48728A>C|SEQ=[A/C]|GENE=KIT

rs2237012

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

NC_000004.12   g.54733832A>G
NC_000004.11   g.55599998A>G
NG_007456.1   g.80838A>G|SEQ=[A/G]|GENE=KIT

rs7110167

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

NC_000011.10   g.94587071T>C
NC_000011.9   g.94320237T>C
NM_152431.3   c.738T>C
NM_152431.2   c.738T>C|SEQ=[T/C]|GENE=PIWIL4
LOC105369438   105369438

rs57607909

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

NC_000011.10   g.94593599G>C
NC_000011.9   g.94326765G>C
NM_152431.3   c.1108G>C
NM_152431.2   c.1108G>C
NP_689644.2   p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4
LOC105369438   105369438

rs593690

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

NC_000011.10   g.94604054C>A
NC_000011.10   g.94604054C>T
NC_000011.9   g.94337220C>A
NC_000011.9   g.94337220C>T
NM_152431.3   c.1636C>A
NM_152431.3   c.1636C>T
NM_152431.2   c.1636C>A
NM_152431.2   c.1636C>T
NP_689644.2   p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4
L  

rs140132974

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

NC_000009.12   g.135697628C>T
NC_000009.11   g.138589474C>T
NG_033070.1   g.444C>T
NG_033784.1   g.6901G>A|SEQ=[C/T]|GENE=SOHLH1

Protein Summary

• Protein general information: P24752  
  • Name: Acetyl CoA acetyltransferase, mitochondrial (EC 2.3.1.9) (Acetoacetyl CoA thiolase) (T2)
  • Length: 427  
  • Mass: 45,200
• Sequence:

  MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGA
  IEKAGIPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQDVMVA
  GGMESMSNVPYVMNRGSTPYGGVKLEDLIVKDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAA
  WEAGKFGNEVIPVTVTVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADA
  AKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVVLANIKMLEIDPQKVN
  INGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGASAMLIQKL

• Structural information:
  • Interpro: IPR002155  IPR016039  IPR020615  IPR020610  IPR020617   IPR020613  IPR020616  
  • Prosite: PS00098 PS00737 PS00099
  • CDD: cd00751
  • PDB: 2F2S 2IB7 2IB8 2IB9 2IBU 2IBW 2IBY
  • PDBsum: 2F2S 2IB7 2IB8 2IB9 2IBU 2IBW 2IBY
  • STRING: ENSP00000265838
• Other Databases: GeneCards:  ACAT1  Malacards:  ACAT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001889	liver development	IEA	biological process
GO:0003985	acetyl-CoA C-acetyltransferase activity	EXP	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0007420	brain development	IEA	biological process
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0009725	response to hormone	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0042594	response to starvation	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0046951	ketone body biosynthetic process	TAS	biological process
GO:0046952	ketone body catabolic process	TAS	biological process
GO:0050662	coenzyme binding	IEA	molecular function
GO:0051260	protein homooligomerization	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072229	metanephric proximal convoluted tubule development	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0003985	acetyl-CoA C-acetyltransferase activity	IEA	molecular function
GO:0003985	acetyl-CoA C-acetyltransferase activity	IEA	molecular function
GO:0003985	acetyl-CoA C-acetyltransferase activity	EXP	molecular function
GO:0003985	acetyl-CoA C-acetyltransferase activity	TAS	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0007420	brain development	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0009725	response to hormone	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups	IEA	molecular function
GO:0019899	enzyme binding	IEA	molecular function
GO:0042594	response to starvation	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0046951	ketone body biosynthetic process	TAS	biological process
GO:0046952	ketone body catabolic process	TAS	biological process
GO:0050662	coenzyme binding	IEA	molecular function
GO:0051260	protein homooligomerization	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072229	metanephric proximal convoluted tubule development	IEA	biological process
GO:0003985	acetyl-CoA C-acetyltransferase activity	EXP	molecular function
GO:0003985	acetyl-CoA C-acetyltransferase activity	TAS	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0046951	ketone body biosynthetic process	TAS	biological process
GO:0046952	ketone body catabolic 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

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01212	Fatty acid metabolism

Diseases

Associated diseases	References
Hypertriglyceridemia	GAD: 18393248
Alpha-methylacetoacetic aciduria	OMIM: 607809
Hypercholesterolemia	GAD: 20602615
Alzheimer's disease	GAD: 19141999
Psychological disorders	GAD: 20167577
Male factor infertility	MIK: 9450965
Premature mammary gland differentiation	MIK: 9450965
Male infertility	MIK: 9450965

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
9450965	Premature mammary gland differentiation, male infertility				Maleinfertility