CLTCL1
Summary: This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:601273 Ensembl IDEnsembl:ENSG00000070371 HGNC IDHGNC:HGNC:2093 PHARMGKB IDPA26619 Map Location22q11.21 |
GO terms in CLTCL1
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Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IDA | GO:0005769 | early endosome |
CC | IBA | GO:0005770 | late endosome |
CC | IDA | GO:0005770 | late endosome |
CC | IBA | GO:0005802 | trans-Golgi network |
CC | IDA | GO:0005802 | trans-Golgi network |
CC | IBA | GO:0005819 | spindle |
Gene expression in normal tissue: CLTCL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CLTCL1
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Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1266738 | Developmental Biology |
reactome | R-HSA-157858 | Gap junction trafficking and regulation |
reactome | R-HSA-190828 | Gap junction trafficking |
reactome | R-HSA-190873 | Gap junction degradation |
reactome | R-HSA-196025 | Formation of annular gap junctions |
reactome | R-HSA-199991 | Membrane Trafficking |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in CLTCL1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |