PDB ID 2IBY     CHAIN A
Protein name Acetyl-CoA acetyltransferase
Uniprot Accession P24752
The number of similar proteins 28
The number of binding states 2
The number of binding partners 1

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
2IBY (CHAIN: A)
1 P24752   P24752   P24752  
2 P24752   P24752  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   MASKPTLKEV   VIVSATRTPI   GSFLGSLSLL   PATKLGSIAI   QGAIEKAGIP   50
51   KEEVKEAYMG   NVLQGGEGQA   PTRQAVLGAG   LPISTPCTTI   NKVXASGMKA   100
101   IMMASQSLMC   GHQDVMVAGG   MESMSNVPYV   MNRGSTPYGG   VKLEDLIVKD   150
151   GLTDVYNKIH   MGSCAENTAK   KLNIARNEQD   AYAINSYTRS   KAAWEAGKFG   200
201   NEVIPVTVTV   KGQPDVVVKE   DEEYKRVDFS   KVPKLKTVFQ   KENGTVTAAN   250
251   ASTLNDGAAA   LVLMTADAAK   RLNVTPLARI   VAFADAAVEP   IDFPIAPVYA   300
301   ASMVLKDVGL   KKEDIAMWEV   NEAFSLVVLA   NIKMLEIDPQ   KVNINGGAVS   350
351   LGHPIGMSGA   RIVGHLTHAL   KQGEYGLASI   CNGGGGASAM   LIQKL   400

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
44_ILE THR ClinVar
chr11:108004557
rs2135334430
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
55_PHE ILE ClinVar
chr11:108004589
-
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
67_LEU PHE 8.3kJPN
chr11:108004625
-
- 0.0001 -
68_GLY VAL ClinVar
chr11:108004629
rs794727475
Likely pathogenic - not provided [MedGen:CN517202]
73_GLN PRO ClinVar
chr11:108004644
rs779758622
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
73_GLN TER ClinVar
chr11:108004643
-
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
85_GLU TER ClinVar
chr11:108004962
rs748425041
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
88_GLU ALA ClinVar
chr11:108004972
rs1565288701
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
92_GLY SER ClinVar
chr11:108004983
rs1591362402
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
93_ASN SER VAR_007498 rs120074145
LP/P - 3-ketothiolase deficiency (3KTD) [MIM:203750]
93_ASN SER ClinVar
chr11:108004987
rs120074145
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
96_GLN TER ClinVar
chr11:108004995
rs1233969418
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
101_GLN TER ClinVar
chr11:108005010
-
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
106_GLN TER ClinVar
chr11:108005025
rs2135336400
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
124_LYS GLU ClinVar
chr11:108005904
rs1591363715
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
124_LYS ARG ClinVar
chr11:108005905
rs1037467160
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
126_CYS SER ClinVar
chr11:108005911
rs1278227329
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase|not provided [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134|MedGen:C3661900]
127_ALA VAL ClinVar
chr11:108005914
rs1591363760
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
132_ALA GLY ClinVar
chr11:108005929
rs1591363786
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
134_MET VAL 8.3kJPN
chr11:108005934
-
- 0.0001 -
140_LEU ARG ClinVar
chr11:108005953
-
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
144_HIS PRO ClinVar
chr11:108005965
rs1025180934
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
144_HIS PRO 8.3kJPN
chr11:108005965
rs1025180934
- 0.0002 -
145_GLN TER ClinVar
chr11:108005967
-
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
150_ALA VAL 8.3kJPN
chr11:108009638
rs149522535
- 0.0001 -
152_GLY ALA VAR_007499 rs762991875
LP/P - 3-ketothiolase deficiency (3KTD) [MIM:203750]
152_GLY ALA ClinVar
chr11:108009644
rs762991875
Pathogenic/Likely pathogenic - not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
158_ASN ASP VAR_007500 rs148639841
LP/P - 3-ketothiolase deficiency (3KTD) [MIM:203750]
158_ASN ASP ClinVar
chr11:108009661
rs148639841
Pathogenic/Likely pathogenic - not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
158_ASN SER ClinVar
chr11:108009662
rs199524907
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase|not provided [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134|MedGen:C3661900]
158_ASN SER gnomAD
chr11:108009662
rs199524907
- 0.000314238 -
159_VAL ALA 8.3kJPN
chr11:108009665
-
- 0.0001 -
161_TYR TER ClinVar
chr11:108009672
-
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
168_THR ILE 8.3kJPN
chr11:108009692
rs1565291981
- 0.0002 -
174_LYS GLU 8.3kJPN
chr11:108009709
rs757956611
- 0.0001 -
183_GLY ARG VAR_007501 rs120074141
LP/P - 3-ketothiolase deficiency (3KTD) [MIM:203750]
183_GLY ARG ClinVar
chr11:108009736
rs120074141
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
186_ASP TYR ClinVar
chr11:108009745
rs1591367592
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
193_MET THR ClinVar
chr11:108009767
rs541517496
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
193_MET ARG ClinVar
chr11:108009767
rs541517496
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
203_LYS THR 8.3kJPN
chr11:108010820
-
- 0.0001 -
208_ARG GLN ClinVar
chr11:108010835
rs370720208
Pathogenic/Likely pathogenic - not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
208_ARG TER ClinVar
chr11:108010834
rs532190594
Pathogenic - not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
210_GLU TER ClinVar
chr11:108010840
-
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
213_ALA THR 8.3kJPN
chr11:108010849
rs772087249
- 0.0001 -
214_TYR TER ClinVar
chr11:108010854
rs761282960
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
218_SER PHE ClinVar
chr11:108010865
rs879255505
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
219_TYR HIS ClinVar
chr11:108010867
rs1437567292
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
225_ALA GLU ClinVar
chr11:108010886
rs1385465985
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
245_GLN TER ClinVar
chr11:108012334
rs2134768525
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
252_GLU LYS 8.3kJPN
chr11:108012355
-
- 0.0001 -
253_ASP ASN ClinVar
chr11:108012358
rs869312946
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
253_ASP GLU ClinVar
chr11:108012360
rs983216159
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
255_GLU TER ClinVar
chr11:108012364
rs2134768688
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
258_ARG CYS gnomAD
chr11:108012373
rs753816946
- 0.000374586 -
258_ARG CYS 8.3kJPN
chr11:108012373
rs753816946
- 0.0016 -
263_LYS TER ClinVar
chr11:108012388
rs2134768866
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
272_GLN TER ClinVar
chr11:108012415
rs120074144
Pathogenic - Deficiency of acetyl-CoA acetyltransferase|not provided [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134|MedGen:C3661900]
272_GLN HIS gnomAD
chr11:108012417
rs139120939
- 0.000171584 -
282_ASN HIS ClinVar
chr11:108013181
rs750195919
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
290_ALA SER 8.3kJPN
chr11:108013205
-
- 0.0001 -
297_THR MET VAR_007502 rs886041122
LP/P - 3-ketothiolase deficiency (3KTD) [MIM:203750]
297_THR MET ClinVar
chr11:108013227
rs886041122
Pathogenic/Likely pathogenic - not provided|Deficiency of acetyl-CoA acetyltransferase|ACAT1-related condition [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134|]
297_THR LYS ClinVar
chr11:108013227
rs886041122
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
301_ALA PRO VAR_007503 rs1420321267
LP/P - 3-ketothiolase deficiency (3KTD) [MIM:203750]
301_ALA PRO ClinVar
chr11:108013238
rs1420321267
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
305_ASN SER 8.3kJPN
chr11:108013251
rs562043215
- 0.0002 -
309_LEU ARG 8.3kJPN
chr11:108013263
-
- 0.0001 -
312_ILE THR VAR_007504 rs120074146
LP/P - 3-ketothiolase deficiency (3KTD) [MIM:203750]
312_ILE THR ClinVar
chr11:108013272
rs120074146
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
312_ILE THR 8.3kJPN
chr11:108013272
rs120074146
- 0.0001 -
317_ASP ASN ClinVar
chr11:108014718
rs780486838
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
317_ASP ASP ClinVar
chr11:108014720
rs747714452
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
327_ILE VAL gnomAD
chr11:108014748
rs150038447
- 0.00024267 -
333_ALA PRO VAR_007505 rs120074147
LP/P - 3-ketothiolase deficiency (3KTD) [MIM:203750]
333_ALA PRO ClinVar
chr11:108014766
rs120074147
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
333_ALA PRO 8.3kJPN
chr11:108014766
rs120074147
- 0.0003 -
347_ILE THR ClinVar
chr11:108016963
rs1338023969
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
350_TRP TER ClinVar
chr11:108016972
rs1367121673
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
353_ASN LYS ClinVar
chr11:108016982
rs1591374629
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
353_ASN LYS ClinVar
chr11:108016982
rs1591374629
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
354_GLU VAL ClinVar
chr11:108016984
rs1591374632
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
367_LEU TER ClinVar
chr11:108017023
rs2134791556
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
368_GLU ASP 8.3kJPN
chr11:108017027
-
- 0.0001 -
372_GLN TER ClinVar
chr11:108017037
rs2134791667
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
373_LYS TER ClinVar
chr11:108017040
rs2134791703
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
375_ASN SER ClinVar
chr11:108017047
rs373771053
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase|ACAT1-related condition [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134|]
375_ASN SER 8.3kJPN
chr11:108017047
rs373771053
- 0.0001 -
379_GLY VAL VAR_007506 rs120074143
LP/P - 3-ketothiolase deficiency (3KTD) [MIM:203750]
379_GLY VAL ClinVar
chr11:108017059
rs120074143
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
380_ALA THR VAR_007507 rs120074140
LP/P - 3-ketothiolase deficiency (3KTD) [MIM:203750]
380_ALA THR ClinVar
chr11:108017061
rs120074140
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
381_VAL ALA 8.3kJPN
chr11:108017065
rs768448235
- 0.0001 -
387_ILE THR ClinVar
chr11:108017083
rs748303093
Pathogenic/Likely pathogenic - not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
387_ILE VAL ClinVar
chr11:108017082
-
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
388_GLY GLU ClinVar
chr11:108017086
rs773491386
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
389_MET ILE ClinVar
chr11:108018000
rs377295639
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
390_SER PRO ClinVar
chr11:108018001
rs1184088336
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
390_SER PRO 8.3kJPN
chr11:108018001
rs1184088336
- 0.0001 -
397_HIS ASP ClinVar
chr11:108018022
rs746332363
Pathogenic/Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
397_HIS ARG ClinVar
chr11:108018023
rs2134797745
Likely pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
397_HIS ASN ClinVar
chr11:108018022
rs746332363
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
404_GLN TER ClinVar
chr11:108018043
-
Pathogenic - Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134]
406_GLU GLY gnomAD
chr11:108018050
rs147872303
- 0.000318228 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.