CLTCL1 (clathrin heavy polypeptide-like 1)

Identity

Other names	CLTCL
	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
Hugo	CLTCL1
GDB	CLTCL1
Entrez_Gene	CLTCL1  8218  clathrin, heavy chain-like 1
	Cards
Atlas	CLTCL1ID361
GeneCards	CLTCL1
Ensembl	CLTCL1 [Search_View]   ENSG00000099949 [Gene_View]
Genatlas	CLTCL1
GeneLynx	CLTCL1
eGenome	CLTCL1
euGene	8218
	Genomic and cartography
GoldenPath	CLTCL1  -  22q11   chr22:17546989-17659239 -  22q11.2   [Description]    (hg18-Mar_2006)
Ensembl	CLTCL1 - 22q11.2 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	CLTCL1
	Gene and transcription
Genbank	AK125929 [ ENTREZ ]
Genbank	AY927418 [ ENTREZ ]
Genbank	BC113030 [ ENTREZ ]
Genbank	BC166681 [ ENTREZ ]
Genbank	BF893495 [ ENTREZ ]
RefSeq	NM_007098 [ SRS ]    NM_007098 [ ENTREZ ]
RefSeq	AC_000065 [ SRS ]    AC_000065 [ ENTREZ ]
RefSeq	AC_000154 [ SRS ]    AC_000154 [ ENTREZ ]
RefSeq	NC_000022 [ SRS ]    NC_000022 [ ENTREZ ]
RefSeq	NT_011519 [ SRS ]    NT_011519 [ ENTREZ ]
RefSeq	NW_001838737 [ SRS ]    NW_001838737 [ ENTREZ ]
RefSeq	NW_927495 [ SRS ]    NW_927495 [ ENTREZ ]
AceView	CLTCL1 AceView - NCBI
Unigene	Hs.368266 [ SRS ]    Hs.368266 [ NCBI ]     HS368266 [ spliceNest ]
Fast-db	1184 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P53675 [ SRS]    P53675 [ EXPASY ]     P53675 [ INTERPRO ]
Interpro	IPR000547 Clathrin_H-chain/VPS_repeat [ SRS ]    IPR000547 Clathrin_H-chain/VPS_repeat [ EBI ]
Interpro	IPR016025 Clathrin_H-chain_link/propller [ SRS ]    IPR016025 Clathrin_H-chain_link/propller [ EBI ]
Interpro	IPR015348 Clathrin_H-chain_linker_core [ SRS ]    IPR015348 Clathrin_H-chain_linker_core [ EBI ]
Interpro	IPR001473 Clathrin_H-chain_propeller_N [ SRS ]    IPR001473 Clathrin_H-chain_propeller_N [ EBI ]
Interpro	IPR016341 Clathrin_heavy_chain [ SRS ]    IPR016341 Clathrin_heavy_chain [ EBI ]
Interpro	IPR011990 TPR-like_helical [ SRS ]    IPR011990 TPR-like_helical [ EBI ]
CluSTr	P53675
Pfam	PF00637 Clathrin [ SRS ]    PF00637 Clathrin [ Sanger ]    pfam00637 [ NCBI-CDD ]
Pfam	PF09268 Clathrin-link [ SRS ]    PF09268 Clathrin-link [ Sanger ]    pfam09268 [ NCBI-CDD ]
Pfam	PF01394 Clathrin_propel [ SRS ]    PF01394 Clathrin_propel [ Sanger ]    pfam01394 [ NCBI-CDD ]
Smart	SM00299 CLH [EMBL]
Blocks	P53675
PDB	CLTCL1 [ SRS ]    CLTCL1 [ PdbSum ],   CLTCL1 [ IMB ]   CLTCL1 [ RSDB ]
HPRD	03172
	Protein Interaction databases
DIP	P53675
IntAct	P53675
	Polymorphism : SNP, mutations, diseases
OMIM	601273    [ map ]
GENECLINICS	601273
SNP	CLTCL1 [dbSNP-NCBI]
SNP	NM_007098 [SNP-NCI]
SNP	CLTCL1 [GeneSNPs - Utah]  CLTCL1] [HGBASE - SRS]
HAPMAP	CLTCL1 [HAPMAP]
COSMIC	CLTCL1 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	CLTCL1
	General knowledge
Family Browser	CLTCL1 [UCSC Family Browser]
SOURCE	NM_007098
SMD	Hs.368266
SAGE	Hs.368266
GO	signal transducer activity [Amigo]  signal transducer activity
GO	structural molecule activity [Amigo]  structural molecule activity
GO	protein binding [Amigo]  protein binding
GO	intracellular protein transport [Amigo]  intracellular protein transport
GO	receptor-mediated endocytosis [Amigo]  receptor-mediated endocytosis
GO	anatomical structure morphogenesis [Amigo]  anatomical structure morphogenesis
GO	membrane [Amigo]  membrane
GO	vesicle-mediated transport [Amigo]  vesicle-mediated transport
GO	clathrin coat of trans-Golgi network vesicle [Amigo]  clathrin coat of trans-Golgi network vesicle
GO	clathrin coat of coated pit [Amigo]  clathrin coat of coated pit
GO	cytoplasmic vesicle membrane [Amigo]  cytoplasmic vesicle membrane
GO	cytoplasmic vesicle [Amigo]  cytoplasmic vesicle
KEGG	Huntington's disease
PubGene	CLTCL1
TreeFam	CLTCL1
CTD	8218 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	CLTCL1 Related clones (RZPD - Berlin)
	PubMed
PubMed	13 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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

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 : Mon Jul 14 17:43:13 2008