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
#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
Disease name
38_TRP TER ClinVar
chr1:40562797
rs386833626 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
38_TRP CYS ClinVar
chr1:40562797
rs386833626 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
39_HIS GLN ClinVar
chr1:40562794
rs386833627 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
42_GLY GLU ClinVar
chr1:40558179
rs386833631 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
45_CYS TYR ClinVar
chr1:40558170
rs137852702 Pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
45_CYS ARG ClinVar
chr1:40558171
rs878853323 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
55_LYS TER ClinVar
chr1:40558141
rs386833633 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
75_THR PRO ClinVar
chr1:40558081
rs137852696 Pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
79_ASP GLY ClinVar
chr1:40557843
rs137852697 Pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
104_LYS TER ClinVar
chr1:40557769
rs386833641 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
108_GLY ARG ClinVar
chr1:40557757
rs137852701 Pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
109_TYR ASP ClinVar
chr1:40557754
rs386833642 Pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
109_TYR TER ClinVar
chr1:40557752
rs1057516447 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
118_GLY ASP ClinVar
chr1:40557726
rs143657539 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
122_ARG TRP ClinVar
chr1:40557070
rs137852695 Pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Neuronal ceroid lipofuscinosis [MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007]; not provided [MedGen:CN517202]
142_GLN TER ClinVar
chr1:40557010
rs796052925 Pathogenic/Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
151_ARG TER ClinVar
chr1:40555167
rs137852700 Pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; History of neurodevelopmental disorder [MedGen:C2711754]; Neuronal Ceroid-Lipofuscinosis, Recessive [MedGen:CN239323]; Neuronal ceroid lipofuscinosis [MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007]; not provided [MedGen:CN517202]
152_CYS TYR ClinVar
chr1:40555163
rs386833647 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
152_CYS TER ClinVar
chr1:40555162
rs386833648 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
164_ARG TER ClinVar
chr1:40555128
rs386833649 Pathogenic/Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
177_GLN GLU ClinVar
chr1:40555089
rs386833650 Pathogenic/Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
177_GLN TER ClinVar
chr1:40555089
rs386833650 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
181_VAL LEU ClinVar
chr1:40546155
rs148412181 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
181_VAL MET ClinVar
chr1:40546155
rs148412181 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
182_GLN TER ClinVar
chr1:40546152
rs386833654 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
184_GLU LYS ClinVar
chr1:40546146
rs386833655 Pathogenic/Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
186_TRP TER ClinVar
chr1:40546138
rs386833656 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
187_HIS ARG ClinVar
chr1:40546136
rs386833657 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
189_PRO ARG ClinVar
chr1:40546130
rs386833658 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
219_LEU GLN ClinVar
chr1:40544302
rs137852698 Pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
222_LEU PRO ClinVar
chr1:40544293
rs386833661 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
225_PHE SER ClinVar
chr1:40544284
rs386833662 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
228_VAL GLY ClinVar
chr1:40544275
rs386833663 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
236_VAL GLU ClinVar
chr1:40544251
rs878853324 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
238_PRO LEU ClinVar
chr1:40544245
rs878853322 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
247_TYR HIS ClinVar
chr1:40542573
rs386833665 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]; not provided [MedGen:CN517202]
247_TYR CYS ClinVar
chr1:40542572
rs764051026 Likely pathogenic not provided [MedGen:CN517202]
250_GLY VAL ClinVar
chr1:40542563
rs386833666 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
279_GLN TER ClinVar
chr1:40539819
rs1553166135 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
291_GLN TER ClinVar
chr1:40539783
rs386833668 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
296_TRP ARG ClinVar
chr1:40539768
rs386833669 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
296_TRP TER ClinVar
chr1:40539766
rs386833670 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]
305_LEU PRO ClinVar
chr1:40539740
rs386833671 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329]