KEGG   Homo sapiens (human): 10577
Entry
10577             CDS       T01001                                 
Symbol
NPC2, EDDM1, HE1
Name
(RefSeq) NPC intracellular cholesterol transporter 2
  KO
K13443  Niemann-Pick C2 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
    10577 (NPC2)
 09150 Organismal Systems
  09154 Digestive system
   04979 Cholesterol metabolism
    10577 (NPC2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    10577 (NPC2)
Transporters [BR:hsa02000]
 Other transporters
  Electrochemical potential-driven transporters [TC:2]
   10577 (NPC2)
SSDB
Motif
Pfam: E1_DerP2_DerF2
Other DBs
NCBI-GeneID: 10577
NCBI-ProteinID: NP_006423
OMIM: 601015
HGNC: 14537
Ensembl: ENSG00000119655
UniProt: P61916 A0A024R6C0
Structure
LinkDB
Position
14:complement(74479935..74493512)
AA seq 151 aa
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVT
FTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYP
SIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL
NT seq 456 nt   +upstreamnt  +downstreamnt
atgcgtttcctggcagctacattcctgctcctggcgctcagcaccgctgcccaggccgaa
ccggtgcagttcaaggactgcggttctgtggatggagttataaaggaagtgaatgtgagc
ccatgccccacccaaccctgccagctgagcaaaggacagtcttacagcgtcaatgtcacc
ttcaccagcaatattcagtctaaaagcagcaaggccgtggtgcatggcatcctgatgggc
gtcccagttccctttcccattcctgagcctgatggttgtaagagtggaattaactgccct
atccaaaaagacaagacctatagctacctgaataaactaccagtgaaaagcgaatatccc
tctataaaactggtggtggagtggcaacttcaggatgacaaaaaccaaagtctcttctgc
tgggaaatcccagtacagatcgtttctcatctctaa

KEGG   Homo sapiens (human): 4864
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)
SSDB
Motif
Pfam: NPC1_MLD Patched NPC1_N Sterol-sensing MMPL ACR_tran
Other DBs
NCBI-GeneID: 4864
NCBI-ProteinID: NP_000262
OMIM: 607623
HGNC: 7897
Ensembl: ENSG00000141458
UniProt: O15118
Structure
LinkDB
Position
18:complement(23506184..23586506)
AA seq 1278 aa
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   +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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