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
ENSG00000141458 NPC1 9606 - 18:23506184-23586898 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000269228 NPC1-001 23531437-23586898 protein_coding
  ENST00000540608 NPC1-004 23539730-23586487 processed_transcript
  ENST00000586150 NPC1-012 23529293-23535700 protein_coding
  ENST00000586718 NPC1-009 23539823-23541372 retained_intron
  ENST00000587163 NPC1-011 23533202-23534560 retained_intron
  ENST00000587223 NPC1-005 23573452-23576947 processed_transcript
  ENST00000588867 NPC1-010 23531722-23535700 retained_intron
  ENST00000590301 NPC1-006 23551546-23554985 retained_intron
  ENST00000590723 NPC1-014 23522315-23533517 protein_coding
  ENST00000591051 NPC1-003 23531946-23560342 protein_coding
  ENST00000591075 NPC1-007 23536742-23539898 retained_intron
  ENST00000591107 NPC1-002 23506184-23535622 protein_coding
  ENST00000591955 NPC1-008 23536700-23538925 retained_intron
  ENST00000593280 NPC1-013 23528207-23533440 protein_coding

Homo sapiens EnsemblGRCh38

Genome
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Genes
Gene structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000269228ENST00000586150ENST00000591051
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000269228 5.506±0.00 5.682±0.00 1.191±0.00 11.421±7.59 3.122±1.37 6.603±0.00 3.600±0.00 6.164±0.00 2.184±0.56 9.570±6.65 6.610±0.00 7.149±0.17 9.544±3.10 6.012±3.27
ENST00000586150 N/A N/A N/A N/A N/A N/A 2.024±0.00 N/A N/A N/A N/A N/A N/A N/A
ENST00000591051 4.975±0.00 5.237±0.00 N/A 10.804±0.00 N/A 5.890±0.00 0.334±0.00 2.207±0.00 2.481±0.00 7.618±4.09 1.419±0.00 3.999±1.37 9.640±3.63 8.220±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005WY CIL_0005WY_0001 CGP 18:23452823-23531807
CIL_0005WX CIL_0005WX_0001 CGP 18:23503470-23586898
CIL_0005WW CIL_0005WW_0001 CGP 18:23506184-23662885

Gene Ontology
GO IDEvidence TypeGO Description
GO:0004872 TAS receptor activity
GO:0004888 TAS transmembrane signaling receptor activity
GO:0005515 IPI protein binding
GO:0005576 ISS extracellular region
GO:0005635 IDA nuclear envelope
GO:0005764 ISS lysosome
GO:0005765 IDA lysosomal membrane
GO:0005768 IEA endosome
GO:0005783 IDA endoplasmic reticulum
GO:0005794 IEA Golgi apparatus
GO:0005886 IEA plasma membrane
GO:0005887 IDA integral component of plasma membrane
GO:0006486 IDA protein glycosylation
GO:0006897 IEA endocytosis
GO:0006914 IGI autophagy
GO:0007041 ISS lysosomal transport
GO:0007165 IEA signal transduction
GO:0007628 IEA adult walking behavior
GO:0008158 IEA hedgehog receptor activity
GO:0008203 IEA cholesterol metabolic process
GO:0008206 ISS bile acid metabolic process
GO:0015248 TAS sterol transporter activity
GO:0015485 IDA cholesterol binding
GO:0016020 IDA:IEA membrane
GO:0016021 TAS:IEA integral component of membrane
GO:0016242 IEA negative regulation of macroautophagy
GO:0030301 IDA:IEA cholesterol transport
GO:0031579 IMP membrane raft organization
GO:0031982 IEA vesicle
GO:0033344 IDA cholesterol efflux
GO:0042493 IEA response to drug
GO:0042632 ISS cholesterol homeostasis
GO:0045121 IEA membrane raft
GO:0046686 IEA response to cadmium ion
GO:0048471 IDA perinuclear region of cytoplasm
GO:0060548 IEA negative regulation of cell death
GO:0070062 IDA extracellular vesicular exosome
GO:0071383 IEA cellular response to steroid hormone stimulus
GO:0071404 IEA cellular response to low-density lipoprotein particle stimulus
GO:0090150 IDA 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
ENSMUSG00000024413 Npc1 Niemann-Pick type C1 protein_coding Mus_musculus

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