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
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

  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 (38)   
   KEGG ORTHOLOGY (1)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (23)   
   OC (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (21)   
   RefSeq(nuc) (3)   
   GenBank (9)   
   EMBL (9)   
3D Structure (2)   
   PDB (2)   
Protein domain (1)   
   Pfam (1)   
All databases (76)   

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