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Gene Model: Acat1

NomenclatureGenomic Location
SymbolAcat1Chromosome1
NameAcetyl-CoA acetyltransferaseLinkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr1: 32 Mbp

Molecular Function

Plays a major role in ketone body metabolism.

2 acetyl-CoA = CoA + acetoacetyl-CoA.

Molecular Function Terms:

binding
   cofactor binding
      coenzyme binding

catalytic activity
   transferase activity
      transferase activity, transferring acyl groups
         transferase activity, transferring acyl groups other than amino-acyl groups
            acyltransferase activity

Human Disease Association

Defects in ACAT1 are a cause of 3-ketothiolase deficiency (3KTD) [MIM:203750]; also known as alpha-methylacetoaceticaciduria. 3KTD is an inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype.

Predicted Transcript
     1 CTTTTTCAGGCATTAACATATGTAAGTCGGGGTTATTCATCACAACGTGGCTTAAATGAA
    61 GTCGTCATTGTCAGTGCTGTACGGACACCAATTGGATCTTTCCAGGGATCCCTTTCTTCA
   121 CATCCAGCAACTAAACTTGGTTCCATTGCAATTAAAGGAGCTGTGGAAAAAGCTGGCATC
   181 CCTGCACAAGAAGTCAAAGAAGTATACATGGGCAATGTTATCCAAGCAGGGCAAGGACAA
   241 GCTCCAGCAAGACAAGCAACCCTTGGCGCAGGTTTACCAGTTTCTACCCCTTGCACAACC
   301 GTCAACAAAGTCTGTGCATCTGGAATGAAATCCATTATGATGGCAGCACAGAGTCTGATG
   361 TGTGGGAATCAGGATGTGATGGTGGCAGGTGGAATGGAGAGCATGTCCAATGTGCCCTAC
   421 ACAATGGTCAGGGGGGCAACGCCGTATGGAGGAGTTAGGCTTGAAGATCTGATTGTAAAA
   481 GATGGCTTGACAGATGTTTATAACAAAATCCACATGGGTAACTGTGCAGAGAATACAGCT
   541 AAGAAATTTTCTATATCACGGGAAGACCAAGATGCTTTTGCTATAAACTCTTATACCAGA
   601 AGTAAAAAAGGCTGGGATTCTGGTATTTTTGCAAATGAAATTGTATCTGTTACGATTTCT
   661 CAGAAAGGGAAACCGGACATAGAGGTTAAAGAAGATGAAGAGTATAAGCGTGTTGACTTT
   721 TCCAAAGTTCCAAAGCTGAAGGCAGTTTTTCAAAAAGAAAATGGAACAGTAACTGCAGCC
   781 AATGCCAGTACACTGAATGATGGAGCAGCTGCTTTGGTTCTGATGACTTCAGAGGCAGCC
   841 AAGAGATTGAATGTTAAACCATTGGCTAGAATAATAGCTTTTGCAGATGCTGCTGTTGAT
   901 CCCATTGACTTCCCAATTGCACCAGCACATGCTATTCCTAAGATACTTAGTCAAACAGGA
   961 CTCAAAAAGGAAGATATTAGTATGTGGGAAATCAATGAAGCATTCAGCGTTGTTGTCCTA
  1021 GCCAATATGAAAATGCTGGATGTTGATCCACAGAAGGTGAATATTAATGGAGGAGCAGTG
  1081 TCCTTGGGACATCCAATTGGGATGTCTGGAGCAAGAATTGTTGTTCACATGGCTCATGCG
  1141 TTGAAACAAGGAGAGCATGGCCTTGCTGGAATTTGCAATGGAGGAGGAGGAGCATCTGCA
  1201 ATTCTGATCCAAAAGCTGTAG

Predicted Protein Product
LFQALTYVSRGYSSQRGLNEVVIVSAVRTPIGSFQGSLSSHPATKLGSIAIKGAVEKAGI
PAQEVKEVYMGNVIQAGQGQAPARQATLGAGLPVSTPCTTVNKVCASGMKSIMMAAQSLM
CGNQDVMVAGGMESMSNVPYTMVRGATPYGGVRLEDLIVKDGLTDVYNKIHMGNCAENTA
KKFSISREDQDAFAINSYTRSKKGWDSGIFANEIVSVTISQKGKPDIEVKEDEEYKRVDF
SKVPKLKAVFQKENGTVTAANASTLNDGAAALVLMTSEAAKRLNVKPLARIIAFADAAVD
PIDFPIAPAHAIPKILSQTGLKKEDISMWEINEAFSVVVLANMKMLDVDPQKVNINGGAV
SLGHPIGMSGARIVVHMAHALKQGEHGLAGICNGGGGASAILIQKL
Protein Alignment to Mouse
sp|Q8QZT1|THIL_MOUSE Acetyl-CoA acetyltransferase, mitochondrial OS=Mus
            musculus GN=Acat1 PE=1 SV=1
      MGI:87870 Acat1 acetyl-Coenzyme A acetyltransferase 1 (Chr 9)
        Length = 424

 Score = 1602 (569.0 bits), Expect = 2.5e-165, P = 2.5e-165
 Identities = 310/406 (76%), Positives = 351/406 (86%)

Query:     1 LFQALTYVSRGYSSQRGLNEVVIVSAVRTPIGSFQGSLSSHPATKLGSIAIKGAVEKAGI 60
             L Q +  + R Y+S+  LNEVVIVSA+RTPIGSF GSL+S PATKLG+ AI+GA+EKAGI
Sbjct:    19 LLQEVRCLERSYASKPTLNEVVIVSAIRTPIGSFLGSLASQPATKLGTAAIQGAIEKAGI 78

Query:    61 PAQEVKEVYMGNVIXXXXXXXXXXXXTLGAGLPVSTPCTTVNKVCASGMKSIMMAAQSLM 120
             P +EVKEVYMGNVI            TLGAGLP+STPCTTVNKVCASGMK+IMMA+QSLM
Sbjct:    79 PKEEVKEVYMGNVIQGGEGQAPTRQATLGAGLPISTPCTTVNKVCASGMKAIMMASQSLM 138

Query:   121 CGNQDVMVAGGMESMSNVPYTMVRGATPYGGVRLEDLIVKDGLTDVYNKIHMGNCAENTA 180
             CG+QDVMVAGGMESMSNVPY M RGATPYGGV+LEDLIVKDGLTDVYNKIHMGNCAENTA
Sbjct:   139 CGHQDVMVAGGMESMSNVPYVMSRGATPYGGVKLEDLIVKDGLTDVYNKIHMGNCAENTA 198

Query:   181 KKFSISREDQDAFAINSYTRSKKGWDSGIFANEIVSVTISQKGKPDIEVKEDEEYKRVDF 240
             KK +ISR++QD +A++SYTRSK+ WD+G FA+EI  +TIS KGKPD+ VKEDEEYKRVDF
Sbjct:   199 KKMNISRQEQDTYALSSYTRSKEAWDAGKFASEITPITISVKGKPDVVVKEDEEYKRVDF 258

Query:   241 SKVPKLKAVFQKENGTVTAANASTLNDGAAALVLMTSEAAKRLNVKPLARIIAFADAAVD 300
             SKVPKLK VFQKENGT+TAANASTLNDGAAALVLMT+EAA+RLNVKPLARI AFADAAVD
Sbjct:   259 SKVPKLKTVFQKENGTITAANASTLNDGAAALVLMTAEAAQRLNVKPLARIAAFADAAVD 318

Query:   301 PIDFPIAPAHAIPKILSQTGLKKEDISMWEINEAFSVVVLANMKMLDVDPQKVNINGGAV 360
             PIDFP+APA+A+PK+L   GLKKEDI+MWE+NEAFSVVVLAN+KML++DPQKVNI+GGAV
Sbjct:   319 PIDFPLAPAYAVPKVLKYAGLKKEDIAMWEVNEAFSVVVLANIKMLEIDPQKVNIHGGAV 378

Query:   361 SLGHPIGMSGARIVVHMAHALKQGEHXXXXXXXXXXXXXXILIQKL 406
             SLGHPIGMSGARIVVHMAHALK GE               +LI+KL
Sbjct:   379 SLGHPIGMSGARIVVHMAHALKPGEFGLASICNGGGGASALLIEKL 424