Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: O15118
83305902

NPC1_HUMAN RecName: Full=Niemann-Pick C1 protein; Flags: Precursor

Known Diseases associated with this Protein:
  NIEMANN-PICK DISEASE C1 (NPC1)
  NIEMANN-PICK DISEASE, TYPE C1
  NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM
  NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
  NIEMANN-PICK DISEASE, TYPE D
  NIEMANN-PICK DISEASE, VARIANT TYPE C1
168
16
17
4
163
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

COG1033 - COG1033
Patched - pfam02460
Sterol-sensing - pfam12349


Swiss-Prot Protein: O15118
Identical to: NP_000262
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG1033COG10339.9e-053381257
Patchedpfam024608.4e-134321253
Sterol-sensingpfam123494.2e-83649803

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_043232Diseasep.ALA745GLUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043190Diseasep.ALA388PRONiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043206Diseasep.ALA521SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043278Diseasep.ALA1054THRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043251Diseasep.ALA926THRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_015567Diseasep.ALA1035VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043277Polymorphismp.ALA1049VALN/A
Swiss-ProtVAR_043280Diseasep.ALA1062VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043293Diseasep.ALA1174VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043298Diseasep.ALA1216VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043211Diseasep.ALA605VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043235Diseasep.ALA767VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043252Diseasep.ALA927VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043191Diseasep.ARG389CYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043213Diseasep.ARG615CYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043237Diseasep.ARG789CYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_015565Diseasep.ARG978CYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043279Diseasep.ARG1059GLNNiemann-Pick disease C1 (NPC1)
dbSNPrs1805084 Polymorphismp.ARG1266GLNN/A
Swiss-ProtVAR_043194Diseasep.ARG404GLNNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008822Diseasep.ARG518GLNNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008828Diseasep.ARG934GLNNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_015564Diseasep.ARG958GLNNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043238Diseasep.ARG789GLYNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008840Diseasep.ARG1186HISNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043214Diseasep.ARG615LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043260Diseasep.ARG958LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043193Diseasep.ARG404PRONiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043187Diseasep.ARG372TRPNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043195Diseasep.ARG404TRPNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043205Diseasep.ARG518TRPNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043286Diseasep.ASN1137ILENiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043290Diseasep.ASN1156ILENiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043289Diseasep.ASN1150LYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008838Diseasep.ASN1156SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043179Diseasep.ASN222SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043263Diseasep.ASN961SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043264Diseasep.ASN968SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043285Diseasep.ASP1097ASNNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043182Diseasep.ASP242ASNNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043226Diseasep.ASP700ASNNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043256Diseasep.ASP944ASNNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043257Diseasep.ASP945ASNNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008830Diseasep.ASP948ASNNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043181Diseasep.ASP242HISNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043258Diseasep.ASP948HISNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043250Diseasep.ASP917TYRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043259Diseasep.ASP948TYRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043245Diseasep.ASP874VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043175Diseasep.CYS113ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043172Diseasep.CYS63ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043266Diseasep.CYS976ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008815Diseasep.CYS177GLYNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043221Diseasep.CYS670TRPNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043292Diseasep.CYS1168TYRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_015561Diseasep.CYS177TYRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043183Diseasep.CYS247TYRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043201Diseasep.CYS479TYRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043173Diseasep.CYS74TYRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008832Diseasep.CYS956TYRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043174Diseasep.GLN92ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043241Diseasep.GLN862LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043236Diseasep.GLN775PRONiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008827Diseasep.GLN928PRONiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043212Diseasep.GLU612ASPNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043294Diseasep.GLU1189GLYNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043283Diseasep.GLU1089LYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043199Diseasep.GLU451LYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043231Diseasep.GLU742LYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043268Diseasep.GLY992ALANiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043275Diseasep.GLY1034ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043301Diseasep.GLY1240ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043216Diseasep.GLY640ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_015566Diseasep.GLY992ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043271Diseasep.GLY1012ASPNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008818Polymorphismp.GLY333ASPN/A
Swiss-ProtVAR_043300Diseasep.GLY1236GLUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043218Diseasep.GLY660SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043249Diseasep.GLY910SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043267Diseasep.GLY986SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008833Diseasep.GLY992TRPNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043272Diseasep.GLY1015VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043287Diseasep.GLY1140VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043184Diseasep.GLY248VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043222Diseasep.GLY673VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043273Diseasep.HIS1016ARGNiemann-Pick disease C1 (NPC1)
dbSNPrs1805081 Polymorphismp.HIS215ARGN/A
Swiss-ProtVAR_043204Diseasep.HIS512ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008821Diseasep.HIS510PRONiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043255Diseasep.ILE943METNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008836Diseasep.ILE1061THRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043284Diseasep.ILE1094THRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008843Polymorphismp.ILE1220THRN/A
dbSNPrs1805082 Polymorphismp.ILE858VALN/A
Swiss-ProtVAR_008841Diseasep.LEU1213PHENiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043188Diseasep.LEU380PHENiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043223Diseasep.LEU684PHENiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008819Polymorphismp.LEU472PRON/A
Swiss-ProtVAR_043228Diseasep.LEU724PRONiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043253Diseasep.LEU929PRONiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008842Diseasep.LEU1213VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043225Diseasep.LEU695VALNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043210Diseasep.LYS576ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043185Diseasep.MET272ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043215Diseasep.MET631ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043269Diseasep.MET996ARGNiemann-Pick disease C1 (NPC1)
dbSNPrs1788799 Polymorphismp.MET642ILEN/A
Swiss-ProtVAR_043233Diseasep.MET754LYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043288Diseasep.MET1142THRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043282Diseasep.PHE1087LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008839Diseasep.PHE1167LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043299Diseasep.PHE1224LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043207Diseasep.PHE537LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043234Diseasep.PHE763LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043227Diseasep.PHE703SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008834Diseasep.PRO1007ALANiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043196Diseasep.PRO433LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043197Diseasep.PRO434LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043200Diseasep.PRO474LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043208Diseasep.PRO543LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043224Diseasep.PRO691LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043178Diseasep.PRO166SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008817Diseasep.PRO237SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043198Polymorphismp.PRO434SERN/A
Swiss-ProtVAR_043246Diseasep.PRO888SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043192Diseasep.PRO401THRNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043220Diseasep.SER666ASNNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043302Diseasep.SER1249GLYNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043177Polymorphismp.SER151GLYN/A
Swiss-ProtVAR_043230Diseasep.SER734ILENiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043240Diseasep.SER849ILENiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043270Diseasep.SER1004LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043242Diseasep.SER865LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008829Diseasep.SER940LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008831Diseasep.SER954LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008820Diseasep.SER473PRONiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043217Diseasep.SER652TRPNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043296Diseasep.THR1205ARGNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043281Diseasep.THR1066ASNNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043276Diseasep.THR1036LYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043295Diseasep.THR1205LYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043209Diseasep.THR574LYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008835Diseasep.THR1036METNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043176Diseasep.THR137METNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043203Polymorphismp.THR511METN/A
Swiss-ProtVAR_043189Polymorphismp.TRP381CYSN/A
Swiss-ProtVAR_043254Diseasep.TRP942CYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043186Polymorphismp.TRP273SERN/A
Swiss-ProtVAR_043248Diseasep.TYR899ASPNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008837Diseasep.TYR1088CYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043239Diseasep.TYR825CYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043243Diseasep.TYR871CYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043247Diseasep.TYR890CYSNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043202Diseasep.TYR509SERNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_015562Diseasep.VAL378ALANiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008824Polymorphismp.VAL757ALAN/A
Swiss-ProtVAR_043244Polymorphismp.VAL873ALAN/A
Swiss-ProtVAR_043261Diseasep.VAL959GLUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043274Diseasep.VAL1023GLYNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043180Diseasep.VAL231GLYNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043265Polymorphismp.VAL971GLYN/A
Swiss-ProtVAR_043297Diseasep.VAL1212LEUNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043291Diseasep.VAL1165METNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043219Diseasep.VAL664METNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_008826Diseasep.VAL889METNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_015563Diseasep.VAL950METNiemann-Pick disease C1 (NPC1)
Swiss-ProtVAR_043229Diseasep.VAL727PHENiemann-Pick disease C1 (NPC1)
OMIM607623.0016 Diseasep.ALA1035VALNIEMANN-PICK DISEASE, TYPE C1
OMIM607623.0020 Diseasep.ARG978CYSNIEMANN-PICK DISEASE, TYPE C1
OMIM607623.0011 Diseasep.ARG958GLNNIEMANN-PICK DISEASE, VARIANT TYPE C1
OMIM607623.0003 Diseasep.ASN1156SERNIEMANN-PICK DISEASE, TYPE C1
OMIM607623.0022 Diseasep.CYS113ARGNIEMANN-PICK DISEASE, TYPE C1
OMIM607623.0018 Diseasep.CYS177TYRNIEMANN-PICK DISEASE, TYPE C1
OMIM607623.0001 Diseasep.GLN928PRONIEMANN-PICK DISEASE, TYPE C1
OMIM607623.0013 Diseasep.GLY992ARGNIEMANN-PICK DISEASE, TYPE C1
OMIM607623.0004 Diseasep.GLY992TRPNIEMANN-PICK DISEASE, TYPE D
OMIM607623.0010 Diseasep.ILE1061THRNIEMANN-PICK DISEASE, TYPE C1
OMIM607623.0009 Diseasep.LEU1213PHENIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
OMIM607623.0012 Diseasep.PRO1007ALANIEMANN-PICK DISEASE, VARIANT TYPE C1
OMIM607623.0002 Diseasep.THR1036METNIEMANN-PICK DISEASE, TYPE C1
OMIM607623.0008 Diseasep.TYR1088CYSNIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
OMIM607623.0014 Diseasep.VAL378ALANIEMANN-PICK DISEASE, TYPE C1
OMIM607623.0006 Diseasep.VAL889METNIEMANN-PICK DISEASE, TYPE C1, ADULT FORM
OMIM607623.0015 Diseasep.VAL950METNIEMANN-PICK DISEASE, TYPE C1



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258