Homo sapiens Gene: CLTCL1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-1288.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | CLTCL1 | ||||||||||||||||||
Gene Name | clathrin, heavy chain-like 1 | ||||||||||||||||||
Synonyms | CHC22; CLH22; CLTCL; CLTD | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000070371 | ||||||||||||||||||
Encoded Proteins |
clathrin, heavy chain-like 1
clathrin, heavy chain-like 1
clathrin, heavy chain-like 1
clathrin, heavy chain-like 1
clathrin, heavy chain-like 1
clathrin, heavy chain-like 1
clathrin, heavy chain-like 1
clathrin, heavy chain-like 1
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
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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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 22:19179473-19291716 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | q11.21 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
No orthologs found for this gene | |||||||||||||||||||
Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Formation of annular gap junctions pathway
Gap junction degradation pathway
Developmental Biology pathway
Axon guidance pathway
Gap junction trafficking pathway
EPH-ephrin mediated repulsion of cells pathway
EPH-Ephrin signaling pathway
Gap junction trafficking and regulation pathway
Membrane Trafficking pathway
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KEGG |
Lysosome pathway
Endocytosis pathway
Huntington's disease pathway
Bacterial invasion of epithelial cells pathway
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INOH | |||||||||||||||||||
PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | H0YGJ9 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 8218 | ||||||||||||||||||
UniGene | Hs.368266 | ||||||||||||||||||
RefSeq | NM_001835 NM_007098 XM_005277800 XM_005277801 | ||||||||||||||||||
HUGO | HGNC:2093 | ||||||||||||||||||
OMIM | 601273 | ||||||||||||||||||
CCDS | CCDS46662 CCDS54497 | ||||||||||||||||||
HPRD | 03172 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC000081 AC000085 AC000094 AC004463 L77569 | ||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | 8218 | ||||||||||||||||||