Homo sapiens (human): 4864
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Entry
4864 CDS
T01001
Symbol
NPC1, NPC, POGZ, SLC65A1
Name
(RefSeq) NPC intracellular cholesterol transporter 1
KO
K12385
Niemann-Pick C1 protein
Organism
hsa
Homo sapiens (human)
Pathway
hsa03265
Virion - Ebolavirus, Lyssavirus and Morbillivirus
hsa04142
Lysosome
hsa04979
Cholesterol metabolism
Disease
H00136
Niemann-Pick disease type C
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09120 Genetic Information Processing
09125 Information processing in viruses
03265 Virion - Ebolavirus, Lyssavirus and Morbillivirus
4864 (NPC1)
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
]
Solute carrier family (SLC)
SLC65: NPC-type cholesterol transporter
4864 (NPC1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
NPC1_MLD
Patched
NPC1_N
Sterol-sensing
MMPL
ACR_tran
Motif
Other DBs
NCBI-GeneID:
4864
NCBI-ProteinID:
NP_000262
OMIM:
607623
HGNC:
7897
Ensembl:
ENSG00000141458
UniProt:
O15118
Structure
PDB
LinkDB
All DBs
Position
18:complement(23506184..23586506)
Genome browser
AA seq
1278 aa
AA seq
DB 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
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
