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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: megalencephalic leukoencephalopathy with subcortical cysts 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000100427 MLC1 9606 - 22:50059391-50085902 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000311597 MLC1-001 50059391-50085902 protein_coding
  ENST00000395876 MLC1-002 50059391-50085354 protein_coding
  ENST00000442311 MLC1-005 50070539-50085384 protein_coding
  ENST00000470008 MLC1-003 50070542-50074684 processed_transcript
  ENST00000483836 MLC1-004 50061461-50072815 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000311597ENST00000395876ENST00000442311ENST00000483836
Transcript ID Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000311597 4.552±2.08 N/A 0.015±0.00 N/A N/A N/A 0.622±0.00 N/A 0.357±0.21 0.525±0.15 0.719±0.38
ENST00000395876 22.401±13.55 0.144±0.00 0.053±0.00 0.007±0.00 0.034±0.00 0.017±0.00 N/A 0.022±0.00 0.164±0.04 1.248±0.55 1.406±0.92
ENST00000442311 N/A 0.243±0.00 N/A 0.215±0.00 0.257±0.00 N/A 0.267±0.00 N/A N/A 0.414±0.00 N/A
ENST00000483836 N/A N/A N/A 0.075±0.00 N/A N/A 0.434±0.00 N/A 0.356±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005YW CIL_0005YW_0001 CGP 22:50015123-50085902
CIL_000093 CIL_000093_0001 CGP 22:50059391-50161690

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005215 NAS transporter activity
GO:0005515 IPI protein binding
GO:0005737 IDA cytoplasm
GO:0005764 ISS lysosome
GO:0005768 IDA endosome
GO:0005769 ISS early endosome
GO:0005783 IDA endoplasmic reticulum
GO:0005886 IDA plasma membrane
GO:0005901 ISS caveola
GO:0005911 IEA cell-cell junction
GO:0006810 NAS transport
GO:0006811 IEA ion transport
GO:0008565 ISS protein transporter activity
GO:0015031 IEA protein transport
GO:0016021 IDA integral component of membrane
GO:0016192 ISS vesicle-mediated transport
GO:0016323 IDA basolateral plasma membrane
GO:0016324 IEA apical plasma membrane
GO:0031410 IDA cytoplasmic vesicle
GO:0032388 IDA positive regulation of intracellular transport
GO:0032403 IDA protein complex binding
GO:0045121 ISS membrane raft
GO:0047484 IMP regulation of response to osmotic stress
GO:0048471 IDA perinuclear region of cytoplasm
GO:0051259 IDA protein oligomerization
GO:0055037 ISS recycling endosome
GO:0071397 ISS cellular response to cholesterol
GO:0072584 ISS caveolin-mediated endocytosis

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000063026 mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 protein_coding Danio_rerio
ENSMUSG00000035805 Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) protein_coding Mus_musculus

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