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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

Alias_namesCLTCL
clathrin, heavy polypeptide-like 1
clathrin, heavy chain-like 1
Alias_symbol (synonym)CLTD
CLH22
CHC22
Other aliasCLH-22
HGNC (Hugo) CLTCL1
LocusID (NCBI) 8218
Atlas_Id 361
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 19166987 and ends at 19279239 bp from pter ( according to hg19-Feb_2009)  [Mapping CLTCL1.png]
Fusion genes
(updated 2016)
AP1B1 (22q12.2) / CLTCL1 (22q11.21)CLTCL1 (22q11.21) / ? ()CLTCL1 (22q11.21) / ALK (2p23.2)
CLTCL1 (22q11.21) / DGCR14 (22q11.21)CLTCL1 (22q11.21) / PLA2G6 (22q13.1)DGCR14 (22q11.21) / CLTCL1 (22q11.21)
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) [ 1 ]
  t(2;22)(p23;q11) CLTCL1/ALK


External links

Nomenclature
HGNC (Hugo)CLTCL1   2093
Cards
AtlasCLTCL1ID361
Entrez_Gene (NCBI)CLTCL1  8218  clathrin heavy chain like 1
AliasesCHC22; CLH22; CLTCL; CLTD
GeneCards (Weizmann)CLTCL1
Ensembl hg19 (Hinxton)ENSG00000070371 [Gene_View]  chr22:19166987-19279239 [Contig_View]  CLTCL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000070371 [Gene_View]  chr22:19166987-19279239 [Contig_View]  CLTCL1 [Vega]
ICGC DataPortalENSG00000070371
TCGA cBioPortalCLTCL1
AceView (NCBI)CLTCL1
Genatlas (Paris)CLTCL1
WikiGenes8218
SOURCE (Princeton)CLTCL1
Genetics Home Reference (NIH)CLTCL1
Genomic and cartography
GoldenPath hg19 (UCSC)CLTCL1  -     chr22:19166987-19279239 -  22q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CLTCL1  -     22q11.2   [Description]    (hg38-Dec_2013)
EnsemblCLTCL1 - 22q11.2 [CytoView hg19]  CLTCL1 - 22q11.2 [CytoView hg38]
Mapping of homologs : NCBICLTCL1 [Mapview hg19]  CLTCL1 [Mapview hg38]
OMIM601273   
Gene and transcription
Genbank (Entrez)AK125929 AK294147 AK295264 AK302506 AY927418
RefSeq transcript (Entrez)NM_001835 NM_007098
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_033805 NT_011520 NW_004929429
Consensus coding sequences : CCDS (NCBI)CLTCL1
Cluster EST : UnigeneHs.368266 [ NCBI ]
CGAP (NCI)Hs.368266
Alternative Splicing GalleryENSG00000070371
Gene ExpressionCLTCL1 [ NCBI-GEO ]   CLTCL1 [ EBI - ARRAY_EXPRESS ]   CLTCL1 [ SEEK ]   CLTCL1 [ MEM ]
Gene Expression Viewer (FireBrowse)CLTCL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8218
GTEX Portal (Tissue expression)CLTCL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP53675   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP53675  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP53675
Splice isoforms : SwissVarP53675
PhosPhoSitePlusP53675
Domaine pattern : Prosite (Expaxy)CHCR (PS50236)   
Domains : Interpro (EBI)ARM-type_fold    Clathrin_H-chain/VPS_repeat    Clathrin_H-chain_link/propller    Clathrin_H-chain_linker_core    Clathrin_H-chain_propeller_N    Clathrin_H-chain_propeller_rpt    Clathrin_heavy_chain    TPR-like_helical_dom   
Domain families : Pfam (Sanger)Clathrin (PF00637)    Clathrin-link (PF09268)    Clathrin_propel (PF01394)   
Domain families : Pfam (NCBI)pfam00637    pfam09268    pfam01394   
Domain families : Smart (EMBL)CLH (SM00299)  
Conserved Domain (NCBI)CLTCL1
DMDM Disease mutations8218
Blocks (Seattle)CLTCL1
SuperfamilyP53675
Human Protein AtlasENSG00000070371
Peptide AtlasP53675
HPRD03172
IPIIPI00022881   IPI00300446   IPI01010066   IPI01010539   IPI00941356   IPI01009154   
Protein Interaction databases
DIP (DOE-UCLA)P53675
IntAct (EBI)P53675
FunCoupENSG00000070371
BioGRIDCLTCL1
STRING (EMBL)CLTCL1
ZODIACCLTCL1
Ontologies - Pathways
QuickGOP53675
Ontology : AmiGOsignal transducer activity  structural molecule activity  protein binding  early endosome  late endosome  trans-Golgi network  spindle  cytosol  plasma membrane  coated pit  intracellular protein transport  receptor-mediated endocytosis  mitotic nuclear division  mitotic nuclear division  signal transduction  anatomical structure morphogenesis  membrane  clathrin coat of trans-Golgi network vesicle  coated vesicle  clathrin-coated vesicle  retrograde transport, endosome to Golgi  positive regulation of glucose import  recycling endosome  extracellular exosome  sorting endosome  
Ontology : EGO-EBIsignal transducer activity  structural molecule activity  protein binding  early endosome  late endosome  trans-Golgi network  spindle  cytosol  plasma membrane  coated pit  intracellular protein transport  receptor-mediated endocytosis  mitotic nuclear division  mitotic nuclear division  signal transduction  anatomical structure morphogenesis  membrane  clathrin coat of trans-Golgi network vesicle  coated vesicle  clathrin-coated vesicle  retrograde transport, endosome to Golgi  positive regulation of glucose import  recycling endosome  extracellular exosome  sorting endosome  
Pathways : KEGGLysosome    Endocytosis    Synaptic vesicle cycle    Endocrine and other factor-regulated calcium reabsorption    Huntington's disease    Bacterial invasion of epithelial cells   
REACTOMEP53675 [protein]
REACTOME Pathways190873 [pathway]   196025 [pathway]   3928665 [pathway]   8856825 [pathway]   8856828 [pathway]   
NDEx NetworkCLTCL1
Atlas of Cancer Signalling NetworkCLTCL1
Wikipedia pathwaysCLTCL1
Orthology - Evolution
OrthoDB8218
GeneTree (enSembl)ENSG00000070371
Phylogenetic Trees/Animal Genes : TreeFamCLTCL1
HOVERGENP53675
HOGENOMP53675
Homologs : HomoloGeneCLTCL1
Homology/Alignments : Family Browser (UCSC)CLTCL1
Gene fusions - Rearrangements
Fusion : MitelmanAP1B1/CLTCL1 [22q12.2/22q11.21]  [t(22;22)(q11;q12)]  
Fusion : MitelmanCLTCL1/ALK [22q11.21/2p23.2]  [t(2;22)(p23;q11)]  
Fusion : MitelmanDGCR2/CLTCL1 [22q11.21/22q11.21]  [t(22;22)(q11;q11)]  
Fusion : MitelmanNF2/CLTCL1 [22q12.2/22q11.21]  [t(22;22)(q11;q12)]  
Fusion : MitelmanSTARD10/CLTCL1 [11q13.4/22q11.21]  [t(11;22)(q13;q11)]  
Fusion: TCGAAP1B1 22q12.2 CLTCL1 22q11.21 PRAD
Fusion: TCGADGCR2 22q11.21 CLTCL1 22q11.21 BRCA
Fusion: TCGANF2 22q12.2 CLTCL1 22q11.21 BRCA
Fusion: TCGASTARD10 11q13.4 CLTCL1 22q11.21 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLTCL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLTCL1
dbVarCLTCL1
ClinVarCLTCL1
1000_GenomesCLTCL1 
Exome Variant ServerCLTCL1
ExAC (Exome Aggregation Consortium)CLTCL1 (select the gene name)
Genetic variants : HAPMAP8218
Genomic Variants (DGV)CLTCL1 [DGVbeta]
DECIPHER (Syndromes)22:19166987-19279239  ENSG00000070371
CONAN: Copy Number AnalysisCLTCL1 
Mutations
ICGC Data PortalCLTCL1 
TCGA Data PortalCLTCL1 
Broad Tumor PortalCLTCL1
OASIS PortalCLTCL1 [ Somatic mutations - Copy number]
Cancer Gene: CensusCLTCL1 
Somatic Mutations in Cancer : COSMICCLTCL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLTCL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CLTCL1
DgiDB (Drug Gene Interaction Database)CLTCL1
DoCM (Curated mutations)CLTCL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLTCL1 (select a term)
intoGenCLTCL1
NCG5 (London)CLTCL1
Cancer3DCLTCL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601273   
Orphanet23647   
MedgenCLTCL1
Genetic Testing Registry CLTCL1
NextProtP53675 [Medical]
TSGene8218
GENETestsCLTCL1
Huge Navigator CLTCL1 [HugePedia]
snp3D : Map Gene to Disease8218
BioCentury BCIQCLTCL1
ClinGenCLTCL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8218
Chemical/Pharm GKB GenePA26619
Clinical trialCLTCL1
Miscellaneous
canSAR (ICR)CLTCL1 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLTCL1
EVEXCLTCL1
GoPubMedCLTCL1
iHOPCLTCL1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:38:30 CET 2017

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jlhuret@AtlasGeneticsOncology.org.