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CLTCL1 (clathrin heavy polypeptide-like 1)

Written2001-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2003-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other aliasCLTCL
CLTD
CLH-22
LocusID (NCBI) 8218
Atlas_Id 361
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AP1B1 (22q12.2) / CLTCL1 (22q11.21)CCSER1 (4q22.1) / CLTCL1 (22q11.21)CLTCL1 (22q11.21) / ALK (2p23.2)
CLTCL1 (22q11.21) / PLA2G6 (22q13.1)CLTCL1 (22q11.21) / TOGARAM2 (2p23.2)DGCR2 (22q11.21) / CLTCL1 (22q11.21)
NF2 (22q12.2) / CLTCL1 (22q11.21)PLA2G6 (22q13.1) / CLTCL1 (22q11.21)STARD10 (11q13.4) / CLTCL1 (22q11.21)
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

Note
  
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
  

Bibliography

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
 
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
 
Clathrin.
Kirchhausen T
Annual review of biochemistry. 2000 ; 69 : 699-727.
PMID 10966473
 
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
 
Clathrin-coated vesicle formation and protein sorting: an integrated process.
Schmid SL
Annual review of biochemistry. 1997 ; 66 : 511-548.
PMID 9242916
 
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
 
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
 

Citation

This paper should be referenced as such :
Huret, JL
CLTCL1 (clathrin heavy polypeptide-like 1)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):224-225.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CLTCL1ID361.html
History of this paper:
Huret, JL. CLTCL1 (clathrin heavy polypeptide-like 1). Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):257-258.
http://documents.irevues.inist.fr/bitstream/handle/2042/37779/08-2001-CLTCL1ID361.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;22)(p23;q11) CLTCL1/ALK
t(2;22)(p23;q11) CLTCL1/ALK


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(11;22)(q13;q11) STARD10/CLTCL1
DGCR2/CLTCL1 (22q11)
t(22;22)(q11;q12) AP1B1/CLTCL1
t(22;22)(q11;q12) NF2/CLTCL1


External links

Nomenclature
Cards
AtlasCLTCL1ID361.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)8218
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Thu Oct 18 17:32:22 CEST 2018

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