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

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