| Homo sapiens Gene: CLTCL1 | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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
|
||||||||||||||||||
| 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] |
||||||||||||||||||
| 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.
|
||||||||||||||||||
| Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
| Biological Process |
|
||||||||||||||||||
| Cellular Component |
|
||||||||||||||||||
| 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
|
||||||||||||||||||
| KEGG |
Lysosome pathway
Endocytosis pathway
Huntington's disease pathway
Bacterial invasion of epithelial cells pathway
|
||||||||||||||||||
| 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 | ||||||||||||||||||