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CLTCL1 (clathrin heavy polypeptide-like 1)

Identity

Other namesCLTCL
CLTD
CLH-22
Hugo CLTCL1
Location 22q11
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

Nomenclature
HugoCLTCL1
GDBCLTCL1
Entrez_GeneCLTCL1  8218  clathrin, heavy chain-like 1
Cards
AtlasCLTCL1ID361
GeneCardsCLTCL1
EnsemblCLTCL1 [Search_View]   ENSG00000099949 [Gene_View]
GenatlasCLTCL1
GeneLynxCLTCL1
eGenomeCLTCL1
euGene8218
Genomic and cartography
GoldenPathCLTCL1  -  22q11   chr22:17546989-17659239 -  22q11.2   [Description]    (hg18-Mar_2006)
EnsemblCLTCL1 - 22q11.2 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneCLTCL1
Gene and transcription
GenbankAK125929 [ ENTREZ ]
GenbankAY927418 [ ENTREZ ]
GenbankBC113030 [ ENTREZ ]
GenbankBC166681 [ ENTREZ ]
GenbankBF893495 [ ENTREZ ]
RefSeqNM_007098 [ SRS ]    NM_007098 [ ENTREZ ]
RefSeqAC_000065 [ SRS ]    AC_000065 [ ENTREZ ]
RefSeqAC_000154 [ SRS ]    AC_000154 [ ENTREZ ]
RefSeqNC_000022 [ SRS ]    NC_000022 [ ENTREZ ]
RefSeqNT_011519 [ SRS ]    NT_011519 [ ENTREZ ]
RefSeqNW_001838737 [ SRS ]    NW_001838737 [ ENTREZ ]
RefSeqNW_927495 [ SRS ]    NW_927495 [ ENTREZ ]
AceViewCLTCL1 AceView - NCBI
UnigeneHs.368266 [ SRS ]    Hs.368266 [ NCBI ]     HS368266 [ spliceNest ]
Fast-db1184 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtP53675 [ SRS]    P53675 [ EXPASY ]     P53675 [ INTERPRO ]
InterproIPR000547 Clathrin_H-chain/VPS_repeat [ SRS ]    IPR000547 Clathrin_H-chain/VPS_repeat [ EBI ]
InterproIPR016025 Clathrin_H-chain_link/propller [ SRS ]    IPR016025 Clathrin_H-chain_link/propller [ EBI ]
InterproIPR015348 Clathrin_H-chain_linker_core [ SRS ]    IPR015348 Clathrin_H-chain_linker_core [ EBI ]
InterproIPR001473 Clathrin_H-chain_propeller_N [ SRS ]    IPR001473 Clathrin_H-chain_propeller_N [ EBI ]
InterproIPR016341 Clathrin_heavy_chain [ SRS ]    IPR016341 Clathrin_heavy_chain [ EBI ]
InterproIPR011990 TPR-like_helical [ SRS ]    IPR011990 TPR-like_helical [ EBI ]
CluSTrP53675
PfamPF00637 Clathrin [ SRS ]    PF00637 Clathrin [ Sanger ]    pfam00637 [ NCBI-CDD ]
PfamPF09268 Clathrin-link [ SRS ]    PF09268 Clathrin-link [ Sanger ]    pfam09268 [ NCBI-CDD ]
PfamPF01394 Clathrin_propel [ SRS ]    PF01394 Clathrin_propel [ Sanger ]    pfam01394 [ NCBI-CDD ]
SmartSM00299 CLH [EMBL]
BlocksP53675
PDBCLTCL1 [ SRS ]    CLTCL1 [ PdbSum ],   CLTCL1 [ IMB ]   CLTCL1 [ RSDB ]
HPRD03172
Protein Interaction databases
DIPP53675
IntActP53675
Polymorphism : SNP, mutations, diseases
OMIM601273    [ map ]   
GENECLINICS601273
SNPCLTCL1 [dbSNP-NCBI]  
SNPNM_007098 [SNP-NCI]  
SNPCLTCL1 [GeneSNPs - Utah]  CLTCL1] [HGBASE - SRS]
HAPMAPCLTCL1 [HAPMAP]  
COSMICCLTCL1 [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDCLTCL1
General knowledge
Family BrowserCLTCL1 [UCSC Family Browser]
SOURCENM_007098
SMDHs.368266
SAGEHs.368266
GOsignal transducer activity [Amigo]  signal transducer activity
GOstructural molecule activity [Amigo]  structural molecule activity
GOprotein binding [Amigo]  protein binding
GOintracellular protein transport [Amigo]  intracellular protein transport
GOreceptor-mediated endocytosis [Amigo]  receptor-mediated endocytosis
GOanatomical structure morphogenesis [Amigo]  anatomical structure morphogenesis
GOmembrane [Amigo]  membrane
GOvesicle-mediated transport [Amigo]  vesicle-mediated transport
GOclathrin coat of trans-Golgi network vesicle [Amigo]  clathrin coat of trans-Golgi network vesicle
GOclathrin coat of coated pit [Amigo]  clathrin coat of coated pit
GOcytoplasmic vesicle membrane [Amigo]  cytoplasmic vesicle membrane
GOcytoplasmic vesicle [Amigo]  cytoplasmic vesicle
KEGGHuntington's disease
PubGeneCLTCL1
TreeFamCLTCL1
CTD8218 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeCLTCL1 Related clones (RZPD - Berlin)
PubMed
PubMed13 Pubmed reference(s) in LocusLink

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 articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written08-2001Jean-Loup Huret
Updated08-2003Jean-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 : Mon Jul 14 17:43:13 2008


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