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Gene Model: Npc1

NomenclatureGenomic Location
SymbolNpc1Chromosome1
NameNiemann-Pick C1 proteinLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates1: 45 Mbp

Molecular Function

Involved in the intracellular trafficking of cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals.

Molecular Function Terms:

binding
   protein binding

Human Disease Association

Defects in NPC1 are the cause of Niemann-Pick disease type C1 (NPDC1) [MIM:257220]. A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected.

Predicted Transcript
     1 TGTTCTAGTCTGTGGTTTTTGCTTGGATTGAGGGAAACACCACTCTGTCATGCTGAGGTT
    61 TTTTCAGACTCTTGTGTTTGGTATGGTGAGTGTGGAATTGCTTCTGGTGATAAACGATAC
   121 AATTGTGAATATAATGGTCCAGCAGTGCCATTACCGAAGGATGGCTATGACTTGGTTCAG
   181 GAACTCTGTCCAGGCCTTTTCTTTGGGAATGTTAGCCTTTGTTGTGATGTGCATCAGCTT
   241 CAGACTTTGAAAAACAACTTGGAGCTCCCTCTGCAGTTTCTTTCCAGGTGCCCATCATGT
   301 TTTTATAATTTAATAAACCTGTTCTGTGAGCTCACCTGCAGTCCTCATCAATCAGAATTT
   361 TTGAATGCTACGCAAACAGAGCCATATATTGATCCAGTTACAAAACAGAATAAAACCAGC
   421 ATTACAGAGCTGCAGTATTACATTGGAGAAACATTTTCTAATGCCATGTATAATGCCTGT
   481 AAAGATGTAGAGGCGCCATCAAGCAATGTTAAAGCACTGGGGCTGCTATGTGGAAAAGAT
   541 CCTAAAGATTGCAATGCAACCAACTGGATACAGTATATGTTTAGTAAGGATAATGGTCAG
   601 GCTCCTTTCAACATTATTCCAATATTTTCAGGTAGGATGTCCCCTATCCATGGGATGACT
   661 CCTATGAACAATGCTACCAAAGGTTGCAATGAGTCTATGGATGATGCCACAGGGCCGTGC
   721 AGTTGTCAAGACTGCTCTATCGTCTGCGGCCCCAAACCAGAGCCCCCTTCGCCCCCTGCT
   781 CCGTGGCTTTTGCTTGGCTTGGATGCTATGTATGTCATCATGTGGATTTCCTACACAGGA
   841 TTTCTGCTAGTCTTTTTTGGAGTGGTTTTTGGAGTGTGGTGTTACAGGAAGAGACACTTT
   901 GTTTCTGAGTACACGCCTATTGACAGCAACATTGCCTATTCTGTTCATTTACGCCAGGAT
   961 ACTGGGGAAGCTACTTGGTGTGAAAGATTTGGTGAAAAGTTTGAGAATGCATTAAGAGTC
  1021 ACATTCACGTCTTGGGGAGCGTTCTGTGTTCGGAACCCACGGCCTGTTATTCTCTTCTCC
  1081 CTGGTTGTGGTTGTTATGTGCTGCTCAGGCCTCATGTTTATGAAATTAACTACAAATCCT
  1141 ATAGACCTCTGGTCAGCCCCAAGTAGCCAGGCTCGCAAAGAAAAGGAATATTTTGATGCT
  1201 CACTTTGGACCTTTCTTCCGCGTTGAACAACTTATTATTCAGGCCCCTCATACCAAGCCA
  1261 GGAATCTACTCTCCATACCCATCAGGAGATGATGTTCCTTTTGGTCCTCCACTTACCAAA
  1321 GATATTTTGCATCAGGTACTAGACTTGCAGGATGCTGTTGAAAATATAACTGCTTCCTAC
  1381 AATAATGAGACCATAATGCTGAAGGACGTCTGCTTGATCCCTCTTTCTCCCTACAATAAC
  1441 AACTGCACTATTCTGAGTGTACTCAACTATTTTCAGAACAGCCATTCTGTCCTAGATCAC
  1501 AGCATTGGTGATGATTTTTATGTTTATGCTGACTACCACTCTCACTTCTTATACTGTGTC
  1561 CAAGCTCCAGCATCTTTGAACGACACAACTCTTCTTCATGATCCATGCTTGGGAACATTT
  1621 GGTGGTCCTGTTTTTCCATGGCTGGTAATGGGAGGATATGATGGTGACAATTACAACAAT
  1681 GCAACAGCCCTTGTCATCACATTTCCTGTCCAGAATTACTACAATGACACAGAAAAGCTG
  1741 AATAAAGCTCTGGCTTGGGAGGAAGAGTTCATCAAGTTTGTGAAAAACTACAGCAACCCA
  1801 AATTTAACAATTTCCTTTACCACTGAACGCAGTATTGAGGATGAAATAAACCGGGAAAGC
  1861 AGCAGCGATGCTAGTACTGTTGCCATCAGTTATGTGGTCATGTTTCTGTACATCTCCTTA
  1921 GCTCTAGGACACATTAGGAGTGCTTCCCGATTCTTGGTGGATTCAAAAATTTCCTTGGGC
  1981 ATTGCAGGGATCCTGATTGTACTGAGTTCAGTGGCATGTTCTATCGGTATCTTCAGCTAT
  2041 TTCGGAGTGAGCTTAACACTGATTGTTATTGAAGTCATTCCATTTTTGGTCCTGGCTGTT
  2101 GGAGTGGATAATATTTTCATTATTGTTCAGACATATCAGAGAGATGAGCGTCTTCAAGGT
  2161 GAAACTCTAGATAAGCAGATTGGCCGTATTCTTGGAGACGTGGCTCCTAGCATGTTCCTT
  2221 TCCTCGTTTTCAGAAACTGTGGCTTTTTTCTTGGGGAGTTTGTCCACTATGCCCGCTGTC
  2281 CGTACTTTCTCCCTTTTTGCCGCGATGGCTGTATTCATTGACTTTCTTCTTCAGATTACA
  2341 TGCTTTGTAAGCCTCTTGGGCCTGGACATTAAGCGTCAAGAGAAAAATCGATATGATATC
  2401 CTGTGTTGTGTCAAAGGCAGTGAGGAAATCAGTAACGTTCCGCATTCTGAAAGCATGTTG
  2461 TTTTTATTCTTCAAAAACATATATTCCCCGTTTCTCCTAAAGGACTGGCTGAGGCCCATA
  2521 GTGATATCCATATTTGTGGGAGTGCTGTCATTCAGCATTGCAGTTATGAACAAAGTAGAG
  2581 ATTGGTTTGGATCAGAGGTTATCAATGCCAGATAACAAGGACTCCTACGTGTTGGAATAT
  2641 TTCAACTCTCTCAGTCGGTTCGTCCACTCAGGCCCTCCCGTCTACTTTGTGCTGGAAGAA
  2701 GGGCATAACTACACCACTTTGGATGGGCAAAACATGGTGTGTGGCGGGATGGGATGCAAC
  2761 AACAACTCCCTGGTACAGCAGCTATTTGACGCAGCAGAAATCAGCAGCTATACAAGAGTT
  2821 GGCTATCCTCCTTCTTCTTGGCTTGATGACTACTTTGATTGGGTCAAACCCCAGTCGTCC
  2881 TGTTGCAGAGTCTATAATGCCACTGAACAATTCTGCAATGCTTCAGTTGTTGATCCCTCC
  2941 TGTGTCCGTTGCCGTCCACTAACTCCAGAAGGGAAACAGAGGCCACAGGGTGAAGAATTC
  3001 ATGAGATTTCTCCCCATGTTCCTCTCTGATAATCCTAACCCAAAATGTGGTAAAGGAGGA
  3061 CACGCTGCCTATGGCTCTGCAGTGAACTTTATAAACAACAATACGGAAGTTGGAGCTACT
  3121 TACTTCAGTTCTTATCATACAGTGCTGAAAACGTCAGCAGACTTCATTGATGCTATGAAA
  3181 AAAGCGCGGATGATAGCCAACAATATTACTGAATCCATGAGCCTCAAGGAGAAAAACTAT
  3241 CGAGTGTTCCCTTACAGTGTGTTCTATGTTTTTTATGAACAATATATGACCATTGTCGGC
  3301 GATACCATCTTTAACCTTACTGTTTCTCTTGGATCGATATTTCTGGTAACGATGGTACTC
  3361 CTTGGCTTTGAAATGTGGGCTGCCGTTGTCGTCTCTGCCACAATTGCGATGATTTTGGTC
  3421 AACATGTTTGGAGTGATGTGGCTCTGGGGCATCAGCTTGAATGCTGTTTCATTAGTCAAC
  3481 CTTGTCATGAGTTGTGGTATCTCTGTCGAGTTCTGCAGCCACGTGGTGAGAGCCTTCACG
  3541 ATCAGCACAAAAGCCAATCGAACTGAGCGCGCTCAGGATGCCCTGTCCCACATGGGGAGC
  3601 TCTGTTTTCAGTGGAATTACACTCACGAAATTTGGAGGAATAGTGGTGCTCGCTTTCTCA
  3661 AAATCCCAAATTTTCCAGATCTTCTACTTCAGGATGTACTTAGCTATGGTACTACTTGGA
  3721 GCAACACATGGACTAATATTTCTTCCTGTCCTGCTAAGCTACATAGGCCCCTCAGTAAAT
  3781 AAAGCTAAAGTACGTGCAGCACAAGAAAGGAGCAAAGGTACAGAAAGAGAAAAACTCCTG
  3841 TTCTTCTAG

Predicted Protein Product
CSSLWFLLGLRETPLCHAEVFSDSCVWYGECGIASGDKRYNCEYNGPAVPLPKDGYDLVQ
ELCPGLFFGNVSLCCDVHQLQTLKNNLELPLQFLSRCPSCFYNLINLFCELTCSPHQSEF
LNATQTEPYIDPVTKQNKTSITELQYYIGETFSNAMYNACKDVEAPSSNVKALGLLCGKD
PKDCNATNWIQYMFSKDNGQAPFNIIPIFSGRMSPIHGMTPMNNATKGCNESMDDATGPC
SCQDCSIVCGPKPEPPSPPAPWLLLGLDAMYVIMWISYTGFLLVFFGVVFGVWCYRKRHF
VSEYTPIDSNIAYSVHLRQDTGEATWCERFGEKFENALRVTFTSWGAFCVRNPRPVILFS
LVVVVMCCSGLMFMKLTTNPIDLWSAPSSQARKEKEYFDAHFGPFFRVEQLIIQAPHTKP
GIYSPYPSGDDVPFGPPLTKDILHQVLDLQDAVENITASYNNETIMLKDVCLIPLSPYNN
NCTILSVLNYFQNSHSVLDHSIGDDFYVYADYHSHFLYCVQAPASLNDTTLLHDPCLGTF
GGPVFPWLVMGGYDGDNYNNATALVITFPVQNYYNDTEKLNKALAWEEEFIKFVKNYSNP
NLTISFTTERSIEDEINRESSSDASTVAISYVVMFLYISLALGHIRSASRFLVDSKISLG
IAGILIVLSSVACSIGIFSYFGVSLTLIVIEVIPFLVLAVGVDNIFIIVQTYQRDERLQG
ETLDKQIGRILGDVAPSMFLSSFSETVAFFLGSLSTMPAVRTFSLFAAMAVFIDFLLQIT
CFVSLLGLDIKRQEKNRYDILCCVKGSEEISNVPHSESMLFLFFKNIYSPFLLKDWLRPI
VISIFVGVLSFSIAVMNKVEIGLDQRLSMPDNKDSYVLEYFNSLSRFVHSGPPVYFVLEE
GHNYTTLDGQNMVCGGMGCNNNSLVQQLFDAAEISSYTRVGYPPSSWLDDYFDWVKPQSS
CCRVYNATEQFCNASVVDPSCVRCRPLTPEGKQRPQGEEFMRFLPMFLSDNPNPKCGKGG
HAAYGSAVNFINNNTEVGATYFSSYHTVLKTSADFIDAMKKARMIANNITESMSLKEKNY
RVFPYSVFYVFYEQYMTIVGDTIFNLTVSLGSIFLVTMVLLGFEMWAAVVVSATIAMILV
NMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHVVRAFTISTKANRTERAQDALSHMGS
SVFSGITLTKFGGIVVLAFSKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVN
KAKVRAAQERSKGTEREKLLFF
Protein Alignment to Mouse
tr|Q7TMD4|Q7TMD4_MOUSE Niemann Pick type C1 OS=Mus musculus GN=Npc1 PE=2 SV=1
        Length = 1277

 Score = 5156 (1820.1 bits), Expect = 0., P = 0.
 Identities = 953/1275 (74%), Positives = 1097/1275 (86%)

Query:     8 LGLRETPLCHAEVFSDSCVWYGECGIASGDKRYNCEYNGPAVPLPKDGYDLVQELCPGLF 67
             LGL    LC A+VFS SCVWYGECGIA+GDKRYNC+Y+GP  PLPKDGYDLVQELCPGLF
Sbjct:     8 LGLLLLLLCPAQVFSQSCVWYGECGIATGDKRYNCKYSGPPKPLPKDGYDLVQELCPGLF 67

Query:    68 FGNVSLCCDVHQLQTLKNNLELPLQFLSRCPSCFYNLINLFCELTCSPHQSEFLNATQTE 127
             F NVSLCCD+ QLQTLK+NL+LPLQFLSRCPSCFYNL+ LFCELTCSPHQS+FLN T TE
Sbjct:    68 FDNVSLCCDIQQLQTLKSNLQLPLQFLSRCPSCFYNLMTLFCELTCSPHQSQFLNVTATE 127

Query:   128 PYIDPVTKQNKTSITELQYYIGETFSNAMYNACKDVEAPSSNVKALGLLCGKDPKDCNAT 187
              Y DP T++NKT++ EL+Y++G++F+NAMYNAC+DVEAPSSN KALGLLCG+D + CNAT
Sbjct:   128 DYFDPKTQENKTNVKELEYFVGQSFANAMYNACRDVEAPSSNEKALGLLCGRDARACNAT 187

Query:   188 NWIQYMFSKDNGQAPFNIIPIFSGRMSPIHGMTPMNNATKGCNESMDDATGPCSCQDCSI 247
             NWI+YMF+KDNGQAPF IIP+FS  +S I GM PM NATKGCNES+D+ TGPCSCQDCSI
Sbjct:   188 NWIEYMFNKDNGQAPFTIIPVFSD-LS-ILGMEPMRNATKGCNESVDEVTGPCSCQDCSI 245

Query:   248 VCGXXXXXXXXXXXXXXXXXDAMYVIMWISYTXXXXXXXXXXXXXWCYRKRHFVSEYTPI 307
             VCG                 DAMYVIMW++Y              WC+R+R+FVSEYTPI
Sbjct:   246 VCGPKPQPPPPPMPWRIWGLDAMYVIMWVTYVAFLFVFFGALLAVWCHRRRYFVSEYTPI 305

Query:   308 DSNIAYSVHLRQDTGEATWCERFGEKFENALRVTFTSWGAFCVRNPRPVILFSLVVVVMC 367
             DSNIA+SV+   D GEA+ C+  G  F++ LR  FT WGAFCVRNP  +I FSL  + +C
Sbjct:   306 DSNIAFSVN-SSDKGEASCCDPLGAAFDDCLRRMFTKWGAFCVRNPTCIIFFSLAFITVC 364

Query:   368 CSGLMFMKLTTNPIDLWSAPSSQARKEKEYFDAHFGPFFRVEQLIIQAPHTKPGIYSPYP 427
              SGL+F+++TTNP++LWSAP SQAR EKEYFD HFGPFFR EQLIIQAP+T   IY PYP
Sbjct:   365 SSGLVFVQVTTNPVELWSAPHSQARLEKEYFDKHFGPFFRTEQLIIQAPNTSVHIYEPYP 424

Query:   428 SGDDVPFGPPLTKDILHQVLDLQDAVENITASYNNETIMLKDVCLIPLSPYNNNCTILSV 487
             +G DVPFGPPL K+ILHQVLDLQ A+E+ITASYNNET+ L+D+C+ PLSPYN NCTI+SV
Sbjct:   425 AGADVPFGPPLNKEILHQVLDLQIAIESITASYNNETVTLQDICVAPLSPYNKNCTIMSV 484

Query:   488 LNYFQNSHSVLDHSIGDDFYVYADYHSHFLYCVQAPASLNDTTLLHDPCLGTFGGPVFPW 547
             LNYFQNSH+VLD  +GDDFY+YADYH+HFLYCV+APASLNDT+LLH PCLGTFGGPVFPW
Sbjct:   485 LNYFQNSHAVLDSQVGDDFYIYADYHTHFLYCVRAPASLNDTSLLHGPCLGTFGGPVFPW 544

Query:   548 LVMGGYDGDNYNNATALVITFPVQNYYNDTEKLNKALAWEEEFIKFVKNYSNPNLTISFT 607
             LV+GGYD  NYNNATALVITFPV NYYNDTE+L +A AWE+EFI FVKNY NPNLTISFT
Sbjct:   545 LVLGGYDDQNYNNATALVITFPVNNYYNDTERLQRAWAWEKEFISFVKNYKNPNLTISFT 604

Query:   608 TERSIEDEINRESSSDASTVAISYVVMFLYISLALGHIRSASRFLVDSKISLGIAGILIV 667
              ERSIEDE+NRES+SD  TV ISYVVMFLYISLALGHI+S SR LVDSKISLGIAGILIV
Sbjct:   605 AERSIEDELNRESNSDVFTVIISYVVMFLYISLALGHIQSCSRLLVDSKISLGIAGILIV 664

Query:   668 LSSVACSIGIFSYFGVSLTLIVIEVIPFLVLAVGVDNIFIIVQTYQRDERLQGETLDKQI 727
             LSSVACS+GIFSY G+ LTLIVIEVIPFLVLAVGVDNIFI+VQTYQRDERLQ ETLD+Q+
Sbjct:   665 LSSVACSLGIFSYMGMPLTLIVIEVIPFLVLAVGVDNIFILVQTYQRDERLQEETLDQQL 724

Query:   728 GRILGDVAPSMFLSSFSETVAFFLGSLSTMPAVRTFSLFAAMAVFIDFLLQITCFVSLLG 787
             GRILG+VAP+MFLSSFSET AFF G+LS+MPAV TFSLFA MAV IDFLLQITCFVSLLG
Sbjct:   725 GRILGEVAPTMFLSSFSETSAFFFGALSSMPAVHTFSLFAGMAVLIDFLLQITCFVSLLG 784

Query:   788 LDIKRQEKNRYDILCCVKGSEEISNVPHSESMLFLFFKNIYSPFLLKDWLRPIVISIFVG 847
             LDIKRQEKN  DILCCV+G+++      SES LF FFKN ++P LLKDWLRPIV+++FVG
Sbjct:   785 LDIKRQEKNHLDILCCVRGADDGQGSHASESYLFRFFKNYFAPLLLKDWLRPIVVAVFVG 844

Query:   848 VLSFSIAVMNKVEIGLDQRLSMPDNKDSYVLEYFNSLSRFVHSGPPVYFVLEEGHNYTTL 907
             VLSFS+AV+NKV+IGLDQ LSMP+  DSYV++YF SL++++HSGPPVYFVLEEG+NY++ 
Sbjct:   845 VLSFSVAVVNKVDIGLDQSLSMPN--DSYVIDYFKSLAQYLHSGPPVYFVLEEGYNYSSR 902

Query:   908 DXXXXXXXXXXXXXXSLVQQLFDAAEISSYTRVGYPPSSWLDDYFDWVKPQSSCCRVYNA 967
                            SLVQQ+F+AAE+ +YTRVG+ PSSW+DDYFDWV PQSSCCR+YN 
Sbjct:   903 KGQNMVCGGMGCDNDSLVQQIFNAAELDTYTRVGFAPSSWIDDYFDWVSPQSSCCRLYNV 962

Query:   968 TEQFCNASVVDPSCVRCRPLTPEGKQRPQGEEFMRFLPMFLSDNPNPKCGKGGHAAYGSA 1027
             T QFCNASV+DP+CVRCRPLTPEGKQRPQG+EFM+FLPMFLSDNPNPKCGKGGHAAYGSA
Sbjct:   963 THQFCNASVMDPTCVRCRPLTPEGKQRPQGKEFMKFLPMFLSDNPNPKCGKGGHAAYGSA 1022

Query:  1028 VNFINNNTEVGATYFSSYHTVLKTSADFIDAMKKARMIANNITESMSLKEKNYRVFPYSV 1087
             VN + ++T +GATYF +YHT+LKTSAD+ DAMKKAR+IA+NITE+M  K  +YRVFPYSV
Sbjct:  1023 VNIVGDDTYIGATYFMTYHTILKTSADYTDAMKKARLIASNITETMRSKGSDYRVFPYSV 1082

Query:  1088 FYVFYEQYMTIVGDTIFNLTVSLGSIFLVTMVLLGFEMWAAVVVSATIAMILVNMFGVMW 1147
             FYVFYEQY+TI+ DTIFNL+VSLGSIFLVT+V+LG E+W+AV++  TIAMILVNMFGVMW
Sbjct:  1083 FYVFYEQYLTIIDDTIFNLSVSLGSIFLVTLVVLGCELWSAVIMCITIAMILVNMFGVMW 1142

Query:  1148 LWGISLNAVSLVNLVMSCGISVEFCSHVVRAFTISTKANRTERAQDALSHMGSSVFSGIT 1207
             LWGISLNAVSLVNLVMSCGISVEFCSH+ RAFT+STK +R  RA++AL+HMGSSVFSGIT
Sbjct:  1143 LWGISLNAVSLVNLVMSCGISVEFCSHITRAFTMSTKGSRVSRAEEALAHMGSSVFSGIT 1202

Query:  1208 LTKFGGIVVLAFSKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKVRAA 1267
             LTKFGGIVVLAF+KSQIF+IFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAK    
Sbjct:  1203 LTKFGGIVVLAFAKSQIFEIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKRHTT 1262

Query:  1268 QERSKGTEREKLLFF 1282
              ER +GTER++LL F
Sbjct:  1263 YERYRGTERKRLLNF 1277