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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: Niemann-Pick type C1
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENSMUST00000025279 Npc1-001 ENSMUSG00000024413 10090 - 18:12189693-12236400 protein_coding

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 Biotype Species E-Value Bit Score
ENST00000269221 C18orf8-001 protein_coding Homo_sapiens 1.99965e-42 178
ENST00000269228 NPC1-001 protein_coding Homo_sapiens 0 3633
ENST00000540608 NPC1-004 processed_transcript Homo_sapiens 0 2327
ENST00000586718 NPC1-009 retained_intron Homo_sapiens 0 346
ENST00000587223 NPC1-005 processed_transcript Homo_sapiens 6e-33 145
ENST00000588867 NPC1-010 retained_intron Homo_sapiens 8e-17 94
ENST00000589215 C18orf8-003 nonsense_mediated_decay Homo_sapiens 3.00004e-41 174
ENST00000589409 C18orf8-010 retained_intron Homo_sapiens 9.00054e-42 174
ENST00000590301 NPC1-006 retained_intron Homo_sapiens 0 331
ENST00000590868 C18orf8-004 protein_coding Homo_sapiens 9.99995e-41 172
ENST00000590870 C18orf8-002 nonsense_mediated_decay Homo_sapiens 1e-24 119
ENST00000591051 NPC1-003 protein_coding Homo_sapiens 0 1988
ENST00000591075 NPC1-007 retained_intron Homo_sapiens 0 327
ENST00000591367 C18orf8-013 processed_transcript Homo_sapiens 7.00649e-43 178
ENST00000593081 C18orf8-012 retained_intron Homo_sapiens 7.00649e-43 178
ENST00000615148 C18orf8-201 protein_coding Homo_sapiens 5.99756e-43 180

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