| Identity |
| Other names | CLTCL |
| CLTD | |
| CLH-22 | |
| HGNC (Hugo) | CLTCL1 |
| Location | 22q11 |
| Location_base_pair | Starts at 17546987 and ends at 17659239 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| Note | may have been confused with CLTC (clathrin heavy chain gene), a partner gene of ALK. |
| DNA/RNA |
| Transcription | 5564 bp mRNA |
| Protein |
| Description | 1640 amino acids, 187 kDa; is composed, from N-term to C-term, of: a globular domain (amino acids 1-479), , a linker (480-523), and the heavy chain arm (524-1640); properties: binding site for ATPase in N term, binding of the light chain in the C-term, and trimerization domain in the C-term. Subunit of clathrin, a structural protein composed of 3 heavy chains (CLTC, CLTCL1), and 2 light chains (CLTA, CLTB), which assembly is mediated by CALM. Form cages. Component of the vesicles matrix originated from the plasma membrane or the golgi |
| Localisation | vesicles |
| Function | mediate endocytosis of transmembrane receptors. |
| Implicated in |
| Entity | ? t(2;22)(p23;q11.2)- ALK |
| Note | CLTCL1/ALK may in fact be cases of CLTC/ALK |
| Disease | ? found in a case of ALK+ anaplasic large cell lymphoma |
| Abnormal Protein | ? 2197 amino acids, 248-250 kDa; 1634 (nearly all the CLTCL1 protein) N-term amino acids from CLTCL1, fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain); cytoplasmic localization restricted to granules |
| Oncogenesis | constitutive autophosphorylation |
| External links |
| Bibliography |
| Structural domains of clathrin heavy chains. |
| Kirchhausen T, Harrison SC |
| The Journal of cell biology. 1984 ; 99 (5) : 1725-1734. |
| PMID 6386825 |
| Clathrin heavy chain: molecular cloning and complete primary structure. |
| Kirchhausen T, Harrison SC, Chow EP, Mattaliano RJ, Ramachandran KL, Smart J, Brosius J |
| Proceedings of the National Academy of Sciences of the United States of America. 1987 ; 84 (24) : 8805-8809. |
| PMID 3480512 |
| Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11. |
| Kedra D, Peyrard M, Fransson I, Collins JE, Dunham I, Roe BA, Dumanski JP |
| Human molecular genetics. 1996 ; 5 (5) : 625-631. |
| PMID 8733129 |
| Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome. |
| Sirotkin H, Morrow B, DasGupta R, Goldberg R, Patanjali SR, Shi G, Cannizzaro L, Shprintzen R, Weissman SM, Kucherlapati R |
| Human molecular genetics. 1996 ; 5 (5) : 617-624. |
| PMID 8733128 |
| Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL). |
| Long KR, Trofatter JA, Ramesh V, McCormick MK, Buckler AJ |
| Genomics. 1996 ; 35 (3) : 466-472. |
| PMID 8844170 |
| Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. |
| Holmes SE, Riazi MA, Gong W, McDermid HE, Sellinger BT, Hua A, Chen F, Wang Z, Zhang G, Roe B, Gonzalez I, McDonald-McGinn DM, Zackai E, Emanuel BS, Budarf ML |
| Human molecular genetics. 1997 ; 6 (3) : 357-367. |
| PMID 9147638 |
| Clathrin-coated vesicle formation and protein sorting: an integrated process. |
| Schmid SL |
| Annual review of biochemistry. 1997 ; 66 : 511-548. |
| PMID 9242916 |
| Clathrin. |
| Kirchhausen T |
| Annual review of biochemistry. 2000 ; 69 : 699-727. |
| PMID 10966473 |
| Further demonstration of the diversity of chromosomal changes involving 2p23 in ALK-positive lymphoma: 2 cases expressing ALK kinase fused to CLTCL (clathrin chain polypeptide-like). |
| Touriol C, Greenland C, Lamant L, Pulford K, Bernard F, Rousset T, Mason DY, Delsol G |
| Blood. 2000 ; 95 (10) : 3204-3207. |
| PMID 10807789 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 08-2001 | Jean-Loup Huret |
| Updated | 08-2003 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . CLTCL1 (clathrin heavy polypeptide-like 1). Atlas Genet Cytogenet Oncol Haematol. August 2001 . URL : http://AtlasGeneticsOncology.org/Genes/CLTCL1ID361.html |
| Huret JL . CLTCL1 (clathrin heavy polypeptide-like 1). Atlas Genet Cytogenet Oncol Haematol. August 2003 . URL : http://AtlasGeneticsOncology.org/Genes/CLTCL1ID361.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 27 10:47:18 CET 2010 |
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