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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Niemann-Pick type C1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000024413 Npc1 10090 - 18:12189693-12236400 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000025279 Npc1-001 12189693-12236400 protein_coding
  ENSMUST00000133112 Npc1-002 12217578-12236358 retained_intron
  ENSMUST00000144435 Npc1-005 12221846-12224087 processed_transcript
  ENSMUST00000145771 Npc1-006 12210384-12212554 processed_transcript
  ENSMUST00000149211 Npc1-003 12217994-12236326 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000025279
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000025279 10.497±3.54 19.128±2.63 7.754±2.06 9.063±1.20 11.447±2.21 13.008±1.19 7.564±0.59 4.778±0.83 11.069±4.98 26.674±2.60 6.835±1.73 14.941±4.40 18.023±4.68 1.534±0.20

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005WY CIL_0005WY_0002 CGP 18:12128850-12189997
CIL_0005WX CIL_0005WX_0002 CGP 18:12168717-12236400
CIL_0005WW CIL_0005WW_0002 CGP 18:12189693-12305720

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IPI protein binding
GO:0005576 IDA extracellular region
GO:0005635 ISS nuclear envelope
GO:0005764 IDA lysosome
GO:0005765 IEA lysosomal membrane
GO:0005768 IDA endosome
GO:0005783 ISS endoplasmic reticulum
GO:0005794 IDA Golgi apparatus
GO:0005886 IDA plasma membrane
GO:0005887 ISS integral component of plasma membrane
GO:0006486 IDA protein glycosylation
GO:0006897 IMP endocytosis
GO:0006914 ISO autophagy
GO:0007041 ISS lysosomal transport
GO:0007165 IEA signal transduction
GO:0007628 IGI adult walking behavior
GO:0008158 IEA hedgehog receptor activity
GO:0008203 IEA cholesterol metabolic process
GO:0008206 ISS bile acid metabolic process
GO:0015485 ISS cholesterol binding
GO:0016020 IDA membrane
GO:0016242 IGI negative regulation of macroautophagy
GO:0030301 ISS cholesterol transport
GO:0031579 IEA membrane raft organization
GO:0031982 IDA vesicle
GO:0033344 IMP cholesterol efflux
GO:0042493 IDA response to drug
GO:0042632 ISS cholesterol homeostasis
GO:0045121 IDA membrane raft
GO:0046686 IEA response to cadmium ion
GO:0048471 ISS perinuclear region of cytoplasm
GO:0060548 IEA negative regulation of cell death
GO:0070062 IEA extracellular vesicular exosome
GO:0071383 IDA cellular response to steroid hormone stimulus
GO:0071404 IDA cellular response to low-density lipoprotein particle stimulus
GO:0090150 IEA establishment of protein localization to membrane

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000017180 npc1 Niemann-Pick disease, type C1 protein_coding Danio_rerio
ENSG00000141458 NPC1 Niemann-Pick disease, type C1 protein_coding Homo_sapiens

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