KEGG   Homo sapiens (human): 10577Help
Entry
10577             CDS       T01001                                 

Gene name
NPC2, EDDM1, HE1
Definition
(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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: E1_DerP2_DerF2
Motif
Other DBs
NCBI-GeneID: 10577
NCBI-ProteinID: NP_006423
OMIM: 601015
HGNC: 14537
Ensembl: ENSG00000119655
Vega: OTTHUMG00000171212
Pharos: P61916(Tbio)
UniProt: P61916 A0A024R6C0
Structure
PDB: 

Position
14q24.3
AA seq 151 aa AA seqDB search
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVT
FTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYP
SIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL
NT seq 456 nt NT seq  +upstreamnt  +downstreamnt
atgcgtttcctggcagctacattcctgctcctggcgctcagcaccgctgcccaggccgaa
ccggtgcagttcaaggactgcggttctgtggatggagttataaaggaagtgaatgtgagc
ccatgccccacccaaccctgccagctgagcaaaggacagtcttacagcgtcaatgtcacc
ttcaccagcaatattcagtctaaaagcagcaaggccgtggtgcatggcatcctgatgggc
gtcccagttccctttcccattcctgagcctgatggttgtaagagtggaattaactgccct
atccaaaaagacaagacctatagctacctgaataaactaccagtgaaaagcgaatatccc
tctataaaactggtggtggagtggcaacttcaggatgacaaaaaccaaagtctcttctgc
tgggaaatcccagtacagatcgtttctcatctctaa

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