KEGG   Homo sapiens (human): 4864Help
Entry
4864              CDS       T01001                                 

Gene name
NPC1, NPC, POGZ, SLC65A1
Definition
(RefSeq) NPC intracellular cholesterol transporter 1
  KO
K12385  Niemann-Pick C1 protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
hsa04979  Cholesterol metabolism
Disease
H00136  Niemann-Pick disease type C
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    4864 (NPC1)
 09150 Organismal Systems
  09154 Digestive system
   04979 Cholesterol metabolism
    4864 (NPC1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    4864 (NPC1)
Transporters [BR:hsa02000]
 Other Transporters
  Electrochemical potential-driven transporters [TC:2]
   4864 (NPC1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Patched NPC1_N Sterol-sensing MMPL ACR_tran
Motif
Other DBs
NCBI-GeneID: 4864
NCBI-ProteinID: NP_000262
OMIM: 607623
HGNC: 7897
Ensembl: ENSG00000141458
Vega: OTTHUMG00000131873
Pharos: O15118(Tbio)
UniProt: O15118
Structure
PDB: 

Position
18q11.2
AA seq 1278 aa AA seqDB search
MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQ
ELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQF
LNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKD
ADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSC
QDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVS
EYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVF
ITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIY
QPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCT
ILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGP
VFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLT
ISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAG
ILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETL
DQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFV
SLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIA
IFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYT
SSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVD
NITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYS
SAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFP
YSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFG
VMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFS
GITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKS
CATEERYKGTERERLLNF
NT seq 3837 nt NT seq  +upstreamnt  +downstreamnt
atgaccgctcgcggcctggcccttggcctcctcctgctgctactgtgtccagcgcaggtg
ttttcacagtcctgtgtttggtatggagagtgtggaattgcatatggggacaagaggtac
aattgcgaatattctggcccaccaaaaccattgccaaaggatggatatgacttagtgcag
gaactctgtccaggattcttctttggcaatgtcagtctctgttgtgatgttcggcagctt
cagacactaaaagacaacctgcagctgcctctacagtttctgtccagatgtccatcctgt
ttttataacctactgaacctgttttgtgagctgacatgtagccctcgacagagtcagttt
ttgaatgttacagctactgaagattatgttgatcctgttacaaaccagacgaaaacaaat
gtgaaagagttacaatactacgtcggacagagttttgccaatgcaatgtacaatgcctgc
cgggatgtggaggccccctcaagtaatgacaaggccctgggactcctgtgtgggaaggac
gctgacgcctgtaatgccaccaactggattgaatacatgttcaataaggacaatggacag
gcaccttttaccatcactcctgtgttttcagattttccagtccatgggatggagcccatg
aacaatgccaccaaaggctgtgacgagtctgtggatgaggtcacagcaccatgtagctgc
caagactgctctattgtctgtggccccaagccccagcccccacctcctcctgctccctgg
acgatccttggcttggacgccatgtatgtcatcatgtggatcacctacatggcgtttttg
cttgtgttttttggagcattttttgcagtgtggtgctacagaaaacggtattttgtctcc
gagtacactcccatcgatagcaatatagctttttctgttaatgcaagtgacaaaggagag
gcgtcctgctgtgaccctgtcagcgcagcatttgagggctgcttgaggcggctgttcaca
cgctgggggtctttctgcgtccgaaaccctggctgtgtcattttcttctcgctggtcttc
attactgcgtgttcgtcaggcctggtgtttgtccgggtcacaaccaatccagttgacctc
tggtcagcccccagcagccaggctcgcctggaaaaagagtactttgaccagcactttggg
cctttcttccggacggagcagctcatcatccgggcccctctcactgacaaacacatttac
cagccatacccttcgggagctgatgtaccctttggacctccgcttgacatacagatactg
caccaggttcttgacttacaaatagccatcgaaaacattactgcctcttatgacaatgag
actgtgacacttcaagacatctgcttggcccctctttcaccgtataacacgaactgcacc
attttgagtgtgttaaattacttccagaacagccattccgtgctggaccacaagaaaggg
gacgacttctttgtgtatgccgattaccacacgcactttctgtactgcgtacgggctcct
gcctctctgaatgatacaagtttgctccatgacccttgtctgggtacgtttggtggacca
gtgttcccgtggcttgtgttgggaggctatgatgatcaaaactacaataacgccactgcc
cttgtgattaccttccctgtcaataattactataatgatacagagaagctccagagggcc
caggcctgggaaaaagagtttattaattttgtgaaaaactacaagaatcccaatctgacc
atttccttcactgctgaacgaagtattgaagatgaactaaatcgtgaaagtgacagtgat
gtcttcaccgttgtaattagctatgccatcatgtttctatatatttccctagccttgggg
cacatgaaaagctgtcgcaggcttctggtggattcgaaggtctcactaggcatcgcgggc
atcttgatcgtgctgagctcggtggcttgctccttgggtgtcttcagctacattgggttg
cccttgaccctcattgtgattgaagtcatcccgttcctggtgctggctgttggagtggac
aacatcttcattctggtgcaggcctaccagagagatgaacgtcttcaaggggaaaccctg
gatcagcagctgggcagggtcctaggagaagtggctcccagtatgttcctgtcatccttt
tctgagactgtagcatttttcttaggagcattgtccgtgatgccagccgtgcacaccttc
tctctctttgcgggattggcagtcttcattgactttcttctgcagattacctgtttcgtg
agtctcttggggttagacattaaacgtcaagagaaaaatcggctagacatcttttgctgt
gtcagaggtgctgaagatggaacaagcgtccaggcctcagagagctgtttgtttcgcttc
ttcaaaaactcctattctccacttctgctaaaggactggatgagaccaattgtgatagca
atatttgtgggtgttctgtcattcagcatcgcagtcctgaacaaagtagatattggattg
gatcagtctctttcgatgccagatgactcctacatggtggattatttcaaatccatcagt
cagtacctgcatgcgggtccgcctgtgtactttgtcctggaggaagggcacgactacact
tcttccaaggggcagaacatggtgtgcggcggcatgggctgcaacaatgattccctggtg
cagcagatatttaacgcggcgcagctggacaactatacccgaataggcttcgccccctcg
tcctggatcgacgattatttcgactgggtgaagccacagtcgtcttgctgtcgagtggac
aatatcactgaccagttctgcaatgcttcagtggttgaccctgcctgcgttcgctgcagg
cctctgactccggaaggcaaacagaggcctcaggggggagacttcatgagattcctgccc
atgttcctttcggataaccctaaccccaagtgtggcaaagggggacatgctgcctatagt
tctgcagttaacatcctccttggccatggcaccagggtcggagccacgtacttcatgacc
taccacaccgtgctgcagacctctgctgactttattgacgctctgaagaaagcccgactt
atagccagtaatgtcaccgaaaccatgggcattaacggcagtgcctaccgagtatttcct
tacagtgtgttttatgtcttctacgaacagtacctgaccatcattgacgacactatcttc
aacctcggtgtgtccctgggcgcgatatttctggtgaccatggtcctcctgggctgtgag
ctctggtctgcagtcatcatgtgtgccaccatcgccatggtcttggtcaacatgtttgga
gttatgtggctctggggcatcagtctgaacgctgtatccttggtcaacctggtgatgagc
tgtggcatctccgtggagttctgcagccacataaccagagcgttcacggtgagcatgaaa
ggcagccgcgtggagcgcgcggaagaggcacttgcccacatgggcagctccgtgttcagt
ggaatcacacttacaaaatttggagggattgtggtgttggcttttgccaaatctcaaatt
ttccagatattctacttcaggatgtatttggccatggtcttactgggagccactcacgga
ttaatatttctccctgtcttactcagttacatagggccatcagtaaataaagccaaaagt
tgtgccactgaagagcgatacaaaggaacagagcgcgaacggcttctaaatttctag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (2)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (11)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (33)   
   RefSeq(nuc) (9)   
   GenBank (12)   
   EMBL (12)   
Protein domain (5)   
   Pfam (5)   
All databases (80)   

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