ENSDARG00000017180


Danio rerio

Features
Gene ID: ENSDARG00000017180
  
Biological name :npc1
  
Synonyms : Niemann-Pick disease, type C1 / npc1
  
Possible biological names infered from orthology : Niemann-Pick C1 protein / NPC intracellular cholesterol transporter 1 / O15118 / O35604
  
Species: Danio rerio
  
Chr. number: 2
Strand: 1
Band:
Gene start: 3823813
Gene end: 3866971
  
Corresponding Affymetrix probe sets: Dr.4869.1.A1_at (Zebrafish Array)   
  
Cross references: Ensembl peptide - ENSDARP00000144951
Ensembl peptide - ENSDARP00000094372
Ensembl peptide - ENSDARP00000141736
NCBI entrez gene - 553330     See in Manteia.
RefSeq - XM_005163658
RefSeq - XM_005163659
RefSeq - NM_001243875
RefSeq Peptide - NP_001230804
swissprot - F1QNG7
swissprot - A0A0R4IZV0
ZFIN ID - ZDB-GENE-030131-3161
Ensembl - ENSDARG00000017180
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 NPC1ENSGALG00000015030Gallus gallus
 NPC1ENSG00000141458Homo sapiens
 Npc1ENSMUSG00000024413Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NPC1L1 / NPC1 like intracellular cholesterol transporter 1 / Q9UHC9*ENSDARG0000009955830
ptch2 / patched 2 / 2 * / O35595* / Q9Y6C5*ENSDARG0000005502619
ptch1 / patched 1 / Q13635* / Q61115* / Mus musculus patched 1 (Ptch1), transcript variant 2, mRNA.*ENSDARG0000001640418
si:ch211-250m6.7 / PTCHD3* / Q0EEE2* / Q3KNS1* / patched domain containing 3*ENSDARG0000006887416
ptchd1 / patched domain containing 1 / Q14B62* / Q96NR3* / Patched domain-containing protein 1 *ENSDARG0000001806612
ptchd4 / Q5RIV7 / patched domain containing 4 / Q6ZW05* / Mus musculus patched domain containing 4 (Ptchd4), transcript variant 1, mRNA.*ENSDARG0000000824911
CR792422.1 / PTCHD3* / Q3KNS1* / patched domain containing 3*ENSDARG0000001007510
ptch1 / patched 1 / Q13635* / Q61115* / Mus musculus patched 1 (Ptch1), transcript variant 2, mRNA.*ENSDARG000000958591


Protein motifs (from Interpro)
Interpro ID Name
 IPR000731  Sterol-sensing domain
 IPR003392  Protein patched/dispatched
 IPR004765  NPC1-like
 IPR032190  Niemann-Pick C1, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IDA
 biological_processGO:0006869 lipid transport ISS
 biological_processGO:0030301 cholesterol transport IMP
 biological_processGO:0035855 megakaryocyte development IMP
 biological_processGO:0043009 chordate embryonic development IMP
 biological_processGO:0055113 epiboly involved in gastrulation with mouth forming second IMP
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005319 lipid transporter activity IEA


Pathways (from Reactome)
Pathway description
LDL clearance


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 ZFA:0000008 brain brain morphology , abnormal
Show

 ZFA:0000094 blood island blood island thrombocyte absent , abnormal
blood island thrombocyte decreased amount , abnormal
Show

 ZFA:0000107 eye eye morphology , abnormal
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 ZFA:0000135 notochord notochord increased width , abnormal
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 ZFA:0000279 segmental plate segmental plate increased width , abnormal
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 ZFA:0001065 lateral mesoderm lateral mesoderm increased width , abnormal
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 ZFA:0001094 whole organism whole organism dead , abnormal
whole organism decreased length , abnormal
whole organism viability , abnormal
whole organism cholesterol increased amount , abnormal
Show

 ZFA:0001114 head head malformed , abnormal
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 ZFA:0009256 nucleate erythrocyte nucleate erythrocyte decreased amount , abnormal
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSDARG00000096979 zgc:193725 / NPC2 (1 of many) / NPC2* / P61916* / Q9Z0J0* / Epididymal secretory protein E1 * / NPC intracellular cholesterol transporter 2*  / reaction
 ENSDARG00000090912 npc2 / Q9DGJ3 / Niemann-Pick disease, type C2 / Q9Z0J0* / P61916* / Epididymal secretory protein E1 * / NPC intracellular cholesterol transporter 2*  / reaction






 

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