PDB ID 1EH5     CHAIN A
Protein name PALMITOYL PROTEIN THIOESTERASE 1
Uniprot Accession P45478
The number of similar proteins 5
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
1EH5 (CHAIN: A)
1 Monomeric state
2 P50897  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   DPPAPLPLVI   WHGMGDSCCN   PLSMGAIKKM   VEKKIPGIHV   LSLEIGKTLR   50
51   EDVENSFFLN   VNSQVTTVCQ   ILAKDPKLQQ   GYNAMGFSQG   GQFLRAVAQR   100
101   CPSPPMVNLI   SVGGQHQGVF   GLPRCPGESS   HICDFIRKTL   NAGAYNKAIQ   150
151   ERLVQAEYWH   DPIREDIYRN   HSIFLADINQ   ERGVNESYKK   NLMALKKFVM   200
201   VKFLNDTIVD   PVDSEWFGFY   RSGQAKETIP   LQESTLYTQD   RLGLKAMDKA   250
251   GQLVFLALEG   DHLQLSEEWF   YAHIIPFLE       300

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
28_ASP GLY gnomAD
chr1:40562828 		rs749909390
- 0.000180006 -
38_TRP TER ClinVar
chr1:40562797 		rs386833626
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
38_TRP CYS ClinVar
chr1:40562797 		rs386833626
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
39_HIS GLN ClinVar
chr1:40562794 		rs386833627
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
45_CYS TYR ClinVar
chr1:40558170 		rs137852702
Pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
45_CYS ARG ClinVar
chr1:40558171 		rs878853323
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
49_LEU TER ClinVar
chr1:40558158 		rs1557714302
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
55_LYS TER ClinVar
chr1:40558141 		rs386833633
Pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
55_LYS TER 8.3kJPN
chr1:40558141 		rs386833633
- 0.0001 -
73_GLY ALA ClinVar
chr1:40558086 		rs1649619197
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
73_GLY GLU ClinVar
chr1:40558086 		rs1649619197
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
75_THR PRO ClinVar
chr1:40558081 		rs137852696
Pathogenic - Neuronal ceroid lipofuscinosis 1|not provided|Retinitis pigmentosa|Inborn genetic diseases|PPT1-related condition [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MeSH:D030342,MedGen:C0950123|]
79_ASP GLY ClinVar
chr1:40557843 		rs137852697
Pathogenic/Likely pathogenic - Neuronal ceroid lipofuscinosis 1|not provided [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900]
104_LYS TER ClinVar
chr1:40557769 		rs386833641
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
106_GLN TER ClinVar
chr1:40557763 		-
Pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
107_GLN TER ClinVar
chr1:40557760 		-
Pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
108_GLY ARG ClinVar
chr1:40557757 		rs137852701
Pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
109_TYR ASP ClinVar
chr1:40557754 		rs386833642
Pathogenic - Neuronal ceroid lipofuscinosis 1|not provided [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900]
109_TYR TER ClinVar
chr1:40557752 		rs1057516447
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
109_TYR CYS ClinVar
chr1:40557753 		-
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
109_TYR SER ClinVar
chr1:40557753 		-
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
110_ASN LYS ClinVar
chr1:40557749 		-
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
110_ASN LYS ClinVar
chr1:40557749 		-
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
110_ASN SER gnomAD
chr1:40557750 		rs142894102
- 0.000186914 -
112_MET THR ClinVar
chr1:40557744 		-
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
118_GLY ASP ClinVar
chr1:40557726 		rs143657539
Pathogenic/Likely pathogenic - Inborn genetic diseases|Neuronal ceroid lipofuscinosis 1|Neuronal ceroid lipofuscinosis [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263]
122_ARG TRP ClinVar
chr1:40557070 		rs137852695
Pathogenic - Neuronal ceroid lipofuscinosis 1|not provided|Neuronal ceroid lipofuscinosis|Inborn genetic diseases [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123]
134_ILE THR gnomAD
chr1:40557033 		rs1800205
- 0.0659131 -
134_ILE THR 8.3kJPN
chr1:40557033 		rs1800205
- 0.1292 -
139_VAL ALA 8.3kJPN
chr1:40557018 		rs766961054
- 0.0001 -
142_GLN TER ClinVar
chr1:40557010 		rs796052925
Pathogenic/Likely pathogenic - not provided|Neuronal ceroid lipofuscinosis 1 [MedGen:C3661900|MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
142_GLN LEU 8.3kJPN
chr1:40557009 		-
- 0.0001 -
148_GLY TER ClinVar
chr1:40555176 		rs2124484378
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
151_ARG TER ClinVar
chr1:40555167 		rs137852700
Pathogenic/Likely pathogenic - Neuronal ceroid lipofuscinosis 1|not provided|Neuronal Ceroid-Lipofuscinosis, Recessive|Neuronal ceroid lipofuscinosis|Inborn genetic diseases|PPT1-related condition [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900|MedGen:CN239323|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|]
151_ARG GLY 8.3kJPN
chr1:40555167 		rs137852700
- 0.0001 -
152_CYS TYR ClinVar
chr1:40555163 		rs386833647
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
152_CYS TER ClinVar
chr1:40555162 		rs386833648
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
156_SER ASN 8.3kJPN
chr1:40555151 		-
- 0.0001 -
164_ARG TER ClinVar
chr1:40555128 		rs386833649
Pathogenic/Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
164_ARG TER 8.3kJPN
chr1:40555128 		rs386833649
- 0.0001 -
177_GLN GLU ClinVar
chr1:40555089 		rs386833650
Pathogenic - Neuronal ceroid lipofuscinosis 1|not provided [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900]
177_GLN TER ClinVar
chr1:40555089 		rs386833650
Pathogenic/Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
178_GLU VAL ClinVar
chr1:40555085 		-
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
181_VAL LEU ClinVar
chr1:40546155 		rs148412181
Pathogenic/Likely pathogenic - Neuronal ceroid lipofuscinosis 1|not provided|Neuronal ceroid lipofuscinosis|Global developmental delay [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874]
181_VAL MET ClinVar
chr1:40546155 		rs148412181
Pathogenic/Likely pathogenic - Neuronal ceroid lipofuscinosis 1|Retinitis pigmentosa|not provided|Inborn genetic diseases [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
181_VAL LEU ClinVar
chr1:40546155 		rs148412181
Pathogenic/Likely pathogenic - not provided|Neuronal ceroid lipofuscinosis 1 [MedGen:C3661900|MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
182_GLN TER ClinVar
chr1:40546152 		rs386833654
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
184_GLU LYS ClinVar
chr1:40546146 		rs386833655
Pathogenic/Likely pathogenic - Neuronal ceroid lipofuscinosis 1|not provided|Inborn genetic diseases|Neuronal ceroid lipofuscinosis [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263]
184_GLU VAL ClinVar
chr1:40546145 		rs2124474566
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
184_GLU LYS 8.3kJPN
chr1:40546146 		rs386833655
- 0.0001 -
186_TRP TER ClinVar
chr1:40546138 		rs386833656
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
187_HIS ARG ClinVar
chr1:40546136 		rs386833657
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
189_PRO ARG ClinVar
chr1:40546130 		rs386833658
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
195_TYR TER ClinVar
chr1:40546111 		-
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
213_GLU TER ClinVar
chr1:40544321 		-
Pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
214_SER ALA 8.3kJPN
chr1:40544318 		-
- 0.0001 -
219_LEU GLN ClinVar
chr1:40544302 		rs137852698
Pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
222_LEU PRO ClinVar
chr1:40544293 		rs386833661
Pathogenic/Likely pathogenic - Neuronal ceroid lipofuscinosis 1|Neuronal ceroid lipofuscinosis|Spastic ataxia [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|Human Phenotype Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226]
228_VAL GLY ClinVar
chr1:40544275 		rs386833663
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
236_VAL GLU ClinVar
chr1:40544251 		rs878853324
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
238_PRO LEU ClinVar
chr1:40544245 		rs878853322
Pathogenic/Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
241_SER TER ClinVar
chr1:40544236 		-
Pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
243_TRP TER ClinVar
chr1:40542584 		rs1477443863
Pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
245_GLY ARG ClinVar
chr1:40542579 		rs1259755308
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
247_TYR HIS ClinVar
chr1:40542573 		rs386833665
Pathogenic/Likely pathogenic - Neuronal ceroid lipofuscinosis 1|not provided|Neuronal ceroid lipofuscinosis [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329|MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263]
247_TYR CYS ClinVar
chr1:40542572 		rs764051026
Likely pathogenic - not provided|Neuronal ceroid lipofuscinosis 1 [MedGen:C3661900|MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
247_TYR TER ClinVar
chr1:40542571 		rs2124470378
Pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
250_GLY VAL ClinVar
chr1:40542563 		rs386833666
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
250_GLY ASP ClinVar
chr1:40542563 		rs386833666
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
250_GLY SER ClinVar
chr1:40542564 		-
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
252_ALA PRO 8.3kJPN
chr1:40542558 		-
- 0.0001 -
259_GLN TER ClinVar
chr1:40542537 		-
Pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
268_ARG HIS 8.3kJPN
chr1:40539851 		rs763536047
- 0.0001 -
279_GLN TER ClinVar
chr1:40539819 		rs1553166135
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
279_GLN HIS gnomAD
chr1:40539817 		rs72937434
- 0.00560386 -
283_LEU VAL 8.3kJPN
chr1:40539807 		-
- 0.0001 -
285_THR ILE 8.3kJPN
chr1:40539800 		-
- 0.0001 -
291_GLN TER ClinVar
chr1:40539783 		rs386833668
Pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
296_TRP ARG ClinVar
chr1:40539768 		rs386833669
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
302_ILE VAL gnomAD
chr1:40539750 		rs146902902
- 0.00115349 -
305_LEU PRO ClinVar
chr1:40539740 		rs386833671
Likely pathogenic - Neuronal ceroid lipofuscinosis 1 [MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329]
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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.