• Gene id: 30

Gene Summary

• Gene Symbol: ACAA1   Gene   UCSC   Ensembl
• Aliases: ACAA, PTHIO, THIO
• Gene name: acetyl-CoA acyltransferase 1
• Alternate names: 3-ketoacyl-CoA thiolase, peroxisomal, acetyl-Coenzyme A acyltransferase 1, beta-ketothiolase, epididymis secretory sperm binding protein, peroxisomal 3-oxoacyl-CoA thiolase, peroxisomal 3-oxoacyl-Coenzyme A thiolase, testicular tissue protein Li 197,
• Gene location: 3p22.2 (38137241: 38122709)     Exons: 12     NC_000003.12
• Gene summary(Entrez): This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
• OMIM: 604054

SNPs

rs886039789

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

NC_000005.10   g.43615851C>G
NC_000005.10   g.43615851C>T
NC_000005.9   g.43615953C>G
NC_000005.9   g.43615953C>T
NG_032869.1   g.18163C>G
NG_032869.1   g.18163C>T
NM_182977.3   c.385C>G
NM_182977.3   c.385C>T
NM_182977.2   c.385C>G
NM_182977.2   c.385C>T
NM_012343.3   c.

rs17840762

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

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

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

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs16927997

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

NC_000009.12   g.125236118A>G
NC_000009.11   g.127998397A>G
NG_027761.1   g.10270T>C
NM_005347.5   c.*474T>C
NM_005347.4   c.*474T>C|SEQ=[A/G]|GENE=HSPA5

rs16895863

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

NC_000006.12   g.42603608A>T
NC_000006.11   g.42571346A>T
XM_005248966.3   c.-1554A>T
XR_001743284.2   n.1051A>T
XM_011514438.2   c.633A>T
NM_015255.2   c.552A>T
XM_017010595.1   c.633A>T
XM_017010596.1   c.552A>T
NM_001363705.1   c.552A>T
XM_017010594.1   c.633A>T
XR_0  

rs7156586

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

NC_000014.9   g.75039527A>T
NC_000014.8   g.75506230A>T
NG_008649.1   g.17006T>A|SEQ=[A/T]|GENE=MLH3

rs3749897

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

NC_000006.12   g.42564364C>G
NC_000006.12   g.42564364C>T
NC_000006.11   g.42532102C>G
NC_000006.11   g.42532102C>T
XR_001743284.2   n.410C>G
XR_001743284.2   n.410C>T
XM_011514438.2   c.-9C>G
XM_011514438.2   c.-9C>T
NM_015255.2   c.45C>G
NM_015255.2   c.45C>T
XM_01701  

rs3216733

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

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

rs2298090

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

NC_000006.12   g.26156845A>G
NC_000006.11   g.26157073A>G
NM_005321.2   c.455A>G
NM_005321.3   c.455A>G
NP_005312.1   p.Lys152Arg|SEQ=[A/G]|GENE=H1-4
H2BC5   3017

rs2227956

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

NC_000006.12   g.31810495G>A
NC_000006.12   g.31810495G>C
NC_000006.12   g.31810495G>T
NC_000006.11   g.31778272G>A
NC_000006.11   g.31778272G>C
NC_000006.11   g.31778272G>T
NG_011855.1   g.9564C>T
NG_011855.1   g.9564C>G
NG_011855.1   g.9564C>A
NM_005527.4   c.1478C>T
  

rs1061581

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

NC_000006.12   g.31816809G>A
NC_000006.11   g.31784586G>A
NG_011855.1   g.3250C>T
NT_113891.3   g.3294060G>A
NT_113891.2   g.3294166G>A
NT_167245.2   g.3064588G>A
NT_167245.1   g.3070173G>A
NT_167244.2   g.3149431G>A
NT_167244.1   g.3099347G>A
NT_167248.2   g.3072637G>A

rs373341

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

NC_000006.12   g.42691014T>C
NC_000006.12   g.42691014T>G
NC_000006.11   g.42658752T>C
NC_000006.11   g.42658752T>G|SEQ=[T/C/G]|GENE=UBR2

rs175080

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

NC_000014.9   g.75047125G>A
NC_000014.8   g.75513828G>A
NG_008649.1   g.9408C>T
NM_014381.3   c.2531C>T
NM_014381.2   c.2531C>T
NM_001040108.2   c.2531C>T
NM_001040108.1   c.2531C>T
XM_005267532.5   c.2531C>T
XM_005267532.1   c.2531C>T
XM_005267533.5   c.2531C>T
XM_0052  

rs4919686

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

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

rs808119

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

NC_000023.11   g.8536792C>A
NC_000023.11   g.8536792C>T
NC_000023.10   g.8504833C>A
NC_000023.10   g.8504833C>T
NG_007088.2   g.200395G>T
NG_007088.2   g.200395G>A
NG_007088.1   g.200395G>T
NG_007088.1   g.200395G>A
NM_000216.4   c.1600G>T
NM_000216.4   c.1600G>A
NM_000  

rs809446

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

NC_000023.11   g.8535600G>A
NC_000023.10   g.8503641G>A
NG_007088.2   g.201587C>T
NG_007088.1   g.201587C>T
NM_000216.4   c.1833C>T
NM_000216.3   c.1833C>T
NM_000216.2   c.1833C>T|SEQ=[G/A]|GENE=ANOS1

Protein Summary

• Protein general information: P09110  
  • Name: 3 ketoacyl CoA thiolase, peroxisomal (EC 2.3.1.16) (Acetyl CoA acyltransferase) (Beta ketothiolase) (Peroxisomal 3 oxoacyl CoA thiolase)
  • Length: 424  
  • Mass: 44292
• Sequence:

  MQRLQVVLGHLRGPADSGWMPQAAPCLSGAPQASAADVVVVHGRRTAICRAGRGGFKDTTPDELLSAVMTAVLKD
  VNLRPEQLGDICVGNVLQPGAGAIMARIAQFLSDIPETVPLSTVNRQCSSGLQAVASIAGGIRNGSYDIGMACGV
  ESMSLADRGNPGNITSRLMEKEKARDCLIPMGITSENVAERFGISREKQDTFALASQQKAARAQSKGCFQAEIVP
  VTTTVHDDKGTKRSITVTQDEGIRPSTTMEGLAKLKPAFKKDGSTTAGNSSQVSDGAAAILLARRSKAEELGLPI
  LGVLRSYAVVGVPPDIMGIGPAYAIPVALQKAGLTVSDVDIFEINEAFASQAAYCVEKLRLPPEKVNPLGGAVAL
  GHPLGCTGARQVITLLNELKRRGKRAYGVVSMCIGTGMGAAAVFEYPGN

• Structural information:
  • Interpro: IPR002155  IPR016039  IPR020615  IPR020610  IPR020617   IPR020613  IPR020616  
  • Prosite: PS00098 PS00737 PS00099
  • CDD: cd00751
  • PDB: 2IIK
  • PDBsum: 2IIK
  • STRING: ENSP00000333664
• Other Databases: GeneCards:  ACAA1  Malacards:  ACAA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003988	acetyl-CoA C-acyltransferase activity	IBA	molecular function
GO:0006635	fatty acid beta-oxidation	IBA	biological process
GO:0010124	phenylacetate catabolic process	IBA	biological process
GO:0005777	peroxisome	IBA	cellular component
GO:0003988	acetyl-CoA C-acyltransferase activity	ISS	molecular function
GO:0006635	fatty acid beta-oxidation	ISS	biological process
GO:0050633	acetyl-CoA C-myristoyltransferase activity	ISS	molecular function
GO:0008206	bile acid metabolic process	ISS	biological process
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0003988	acetyl-CoA C-acyltransferase activity	IEA	molecular function
GO:0008775	acetate CoA-transferase activity	EXP	molecular function
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0036109	alpha-linolenic acid metabolic process	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0003988	acetyl-CoA C-acyltransferase activity	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0035580	specific granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0006635	fatty acid beta-oxidation	IMP	biological process
GO:0000038	very long-chain fatty acid metabolic process	IMP	biological process
GO:0008206	bile acid metabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006635	fatty acid beta-oxidation	IMP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0016401	palmitoyl-CoA oxidase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04146	Peroxisome
hsa03320	PPAR signaling pathway
hsa01212	Fatty acid metabolism
hsa00280	Valine, leucine and isoleucine degradation
hsa00071	Fatty acid degradation
hsa01040	Biosynthesis of unsaturated fatty acids
hsa00592	alpha-Linolenic acid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881