C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Niemann-Pick disease, type C1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSDARG00000017180 npc1 7955 + 2:4310671-4353828 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSDART00000103596 npc1-001 4310671-4353828 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartKidneyLiverMuscleENSDART00000103596
Transcript ID Brain Heart Kidney Liver Muscle
ENSDART00000103596 10.389±1.08 15.483±4.89 35.429±13.93 22.839±0.00 5.974±0.00

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001666 IDA response to hypoxia
GO:0006869 ISS lipid transport
GO:0008158 IEA hedgehog receptor activity
GO:0009790 IMP embryo development
GO:0016020 IEA membrane
GO:0016021 IEA integral to membrane
GO:0030301 IEA cholesterol transport
GO:0035855 IMP megakaryocyte development
GO:0055113 IMP epiboly involved in gastrulation with mouth forming second

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSG00000141458 NPC1 Niemann-Pick disease, type C1 protein_coding Homo_sapiens
ENSMUSG00000024413 Npc1 Niemann-Pick type C1 protein_coding Mus_musculus

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