PDB ID 1EXW CHAINA
Protein namePALMITOYL PROTEIN THIOESTERASE 1
Uniprot Accession P45478
The number of similar proteins 3
The number of binding states 1
The number of binding partners 0
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
1EXW (CHAIN: A)
1 Monomeric state
Downdload
Format:
Molecule viewer
#binding
partners
  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
42_GLY GLU ClinVar rs386833631 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329]
45_CYS TYR ClinVar rs137852702 Pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329]
45_CYS ARG ClinVar rs878853323 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329]
55_LYS UNK ClinVar rs386833633 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329]
75_THR PRO ClinVar rs137852696 Pathogenic Ceroid lipofuscinosis neuronal 1;not provided [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329; MedGen:CN517202]
79_ASP GLY ClinVar rs137852697 Pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329]
91_GLN PRO ClinVar rs386833639 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329]
96_CYS TYR ClinVar rs386833640 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329]
104_LYS UNK ClinVar rs386833641 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329]
108_GLY ARG ClinVar rs137852701 Pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329]
109_TYR UNK ClinVar rs1057516447 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329]
109_TYR ASP ClinVar rs386833642 Pathogenic/Likely pathogenic Ceroid lipofuscinosis neuronal 1;not provided [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329; MedGen:CN517202]
122_ARG TRP ClinVar rs137852695 Pathogenic Ceroid lipofuscinosis neuronal 1;Neuronal ceroid lipofuscinosis;not provided [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329; MedGen:C0027877, OMIM:214200, Orphanet:ORPHA216, SNOMED CT:42012007; MedGen:CN517202]
138_SER LEU ClinVar rs386833646 Likely pathogenic Ceroid lipofuscinosis neuronal 1 [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329]
142_GLN UNK ClinVar rs796052925 Pathogenic/Likely pathogenic Ceroid lipofuscinosis neuronal 1;not provided [MedGen:C1850451, OMIM:256730, Orphanet:ORPHA228329; MedGen:CN517202]