Gene Report

Gene: CLTCL1     Link to MethyView
Summary
Gene symbol CLTCL1
Alias CHC22, CLH22, CLTCL, CLTCL1, CLTD, FLJ36032
Cytogenetic Location 22q11.21
Type KNOWN
Property protein_coding
Description Clathrin heavy chain 2 (CLH-22) [CLH22] [CLTCL] [CLTD]
External Links
   Ensembl ENSG00000070371
   OMIM 601273
   UniGene Hs.368266 Hs.645036
   mRNA NM_007098.2
   SwissProt P53675
 
Diseases(Cancers)
Cancer Name inv(14)(q11q32.1)
Description "
  • TCL1B is located on 14q32.1 16 Kb centromeric of TCL1A and shows 60% similarity to TCL1; TCL1A and TCL1B are located in the about 160 kb region of breakpoints observed in T cell leukemia cases with translocations at 14q32.1
  • Semi quantitative RT-PCR analysis revealed that both TCL1A and TCL1b genes are expressed in spleen, tonsil, fetal liver, fetal kidney and fetal thymus. However the TCL1B gene is expressed in a wide variety of tissues. Normally, TCL1A expression is observed in early T cell progenitors (CD4- CD8- CD3-) and lymphoid cell of the B lineage : pre B cells and immature IgM expressing B cells.
  • TCL1A, TCL1B encode for protein of about 14 kDa. TCL1A 14 kDa protein consists of an eight-stranded antiparallel beta barrel with a hydrophobic core and are predicted to bind small hydrophobic ligands such as retinoids, nucleosides or fatty acids.
  • NOTE : in addition to TCL1 and TCL1b the locus contains two additional genes TCL1- neighboring gene (TNG1 and TNG2) encoding proteins of 141 and 110 amino acids. Recently two novel genes have been identified in this region : TML1 and TCL6. Since the TCL1, TCL1b, TML1, TCL6 genes are expressed in T-cell leukemias carrying a t(14;14) translocation, they are four candidate genes potentially involved in leukemogenesis. "
  •  
    Cancer Name t(2;22)(p23;q11.2)
    Description "found in a case of ALK+ http://atlasgeneticsoncology.org/Anomalies/AnaplLargeCelLymphID2103.html, 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
     
    Cancer Name T-cell prolymphocytic leukemia (T-PLL)
    Description "
  • as with other T-cell neoplasms, T-PLL exhibits clonal rearrangement of T-cell receptor genes; translocation t(X;14)(q28;q11) may result into fusion of MTCP1 with TRA/Dgenes; finally, the TCL1 locus on chromosome 14q32 might also been involved
  • in Ataxia Telangiectasia- a rare recessive pleiotropic disease (including elevated cancer predisposition) mapping to 11q23 and caused by mutations of theATM gene - a recurrent malignancy is observed that is similar to T-PLL; its frequency in A-T patients is higher than in the non-A-T related form; A-T related TPLL has a similar course, a similar immunophenotype and similar cytogenetics (with the notable exception that 11q23 breakpoints are recurrent in the sporadic but not the A-T related form of the disease); an initial report of ATM mutations in T-PLL demonstrated the principle that ATM was a candidate cancer gene in sporadic forms of malignancies prevalent in A-T; the identification of lesions in ATM associated with T-PLL has shown that:
  • homozygous truncating mutations are present in some cases; this suggests ATM can appear to act like a conventional tumour suppressor with biallelic inactivation in the tumour cell
  • missense mutations cluster in the carboxy-terminal phosphatidyl-3-kinase (PIK) domain; this suggests impairment of this domain can contribute to - and may constitute a distinct step in - tumourigenesis
  • rearrangement of the gene is frequent; some rearrangements are consistent with a translocation event, in agreement with cytogenetic data implicating 11q23 in T-PLL; others involve transposition of a segment of the ATM gene elsewhere in the genome.
  • one allele only is mutated (by rearrangement) in some cases; this is probably not associated with a concomitant epigenetic event such as abnormal promoter methylation
  • no T-PLL case has been reported with germline ATM mutation; this may reflect the small numbers investigated; all the same, the hypothesis is excluded that this rare disease is due solely to germline ATM mutation "
  •  
    Cancer Name Anaplasic large cell lymphoma (ALCL)
    Description From cancer gene census of CGP:
     
    Expression
    Expresstion ovary, cartilage, cerebellum, bone, stomach, uterus, kidney, liver, pituitary, cerebrum, head, heart, peripheral, brain, embryonic, prostate, lung, thyroid, lymph, colon, nervous, muscle, testis, eye, pooled, uncharacterized, synovium
    Related library Link
     
    Genomic Regions, Transcripts and Proteins
    Gene Structure <0...20>, <22...51>, <2635...2856>, <6802...6972>, <7225...7335>, <10548...10679>, <15509...15658>, <15732...15899>, <18977...19084>, <20572...20729>, <27258...27264>, <27396...27553>, <28164...28356>, <29568...29751>, <35353...35498>, <39126...39248>, <40632...40866>, <41206...41348>, <41939...42064>, <43146...43309>, <44708...44888>, <45474...45638>, <49093...49230>, <51731...51853>, <52421...52573>, <52677...52877>, <53764...53961>, <54951...55124>, <58530...58643>, <62030...62191>, <73214...73482>, <94878...95085>, <110855...110942>
    Ensembl Transcript ENST00000359223
    Ensembl Protein ENSP00000352159
     
    Gene Structure <0...493>, <723...762>, <1255...1330>, <3914...4135>, <8081...8251>, <8504...8614>, <11827...11958>, <16788...16937>, <17011...17178>, <20256...20363>, <21851...22008>, <28537...28543>, <28675...28832>, <29443...29635>, <30847...31030>, <36632...36777>, <40405...40527>, <41911...42145>, <42485...42627>, <43218...43343>, <44425...44588>, <45987...46167>, <46753...46917>, <50372...50509>, <53010...53132>, <53700...53852>, <53956...54156>, <55043...55240>, <56230...56403>, <59809...59922>, <63309...63470>, <74493...74761>, <96157...96364>, <112134...112221>
    Ensembl Transcript ENST00000263200
    Ensembl Protein ENSP00000263200
    Gene Ontology GO:0030125 IEA Generated via Q9H0R1
    GO:0009653 TAS Generated via Q9UK85
    GO:0030132 IEA Generated via Q00610
    GO:0004871 TAS Generated via O75298
    GO:0006898 TAS Generated via O60896
    GO:0005488 IEA Generated via Q8IXT6
     
    Gene Structure <0...493>, <723...762>, <1255...1330>, <3914...4135>, <8504...8614>, <11827...11958>, <16788...16937>, <17011...17178>, <20256...20363>, <21851...22008>, <28537...28543>, <28675...28832>, <29443...29635>, <30847...31030>, <36632...36777>, <40405...40527>, <41911...42145>, <42485...42627>, <43218...43343>, <44425...44588>, <45987...46167>, <46753...46917>, <50372...50509>, <53010...53132>, <53700...53852>, <53956...54156>, <55043...55240>, <56230...56403>, <59809...59922>, <63309...63470>, <74493...74761>, <96157...96364>, <112134...112221>
    Ensembl Transcript ENST00000353891
    Ensembl Protein ENSP00000337902
     
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    DNA methylation and CGIs
    Gene MethyCancer Type Annotated cancer gene with experimental methylation data
    Link to MethyView
     
    Bibliography
    Title Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL).
    Authors Long KR, Trofatter JA, Ramesh V, McCormick MK, Buckler AJ.
    Citations Genomics 1996; 35: 466-472.
    PubMedID 97227280
     
    Title Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.
    Authors 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.
    Citations Hum Mol Genet 1997; 6: 357-367.
    PubMedID 97227280
     
    Title Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11.
    Authors Kedra D, Peyrard M, Fransson I, Collins JE, Dunham I, Roe BA, Dumanski JP.
    Citations Hum Mol Genet 1996; 5: 625-631.
    PubMedID 96311556
     
    Title Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome.
    Authors Sirotkin H, Morrow B, DasGupta R, Goldberg R, Patanjali SR, Shi G, Cannizzaro L, Shprintzen R, Weissman SM, Kucherlapati R.
    Citations Hum Mol Genet 1996; 5: 617-624.
    PubMedID 97001147
     
    Title 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).
    Authors Touriol C, Greenland C, Lamant L, Pulford K, Bernard F, Rousset T, Mason DY, Delsol G.
    Citations Blood 2000; 95: 3204-3207.
    PubMedID 97227280
     
    Title Clathrin-coated vesicle formation and protein sorting: an integrated process.
    Authors Schmid SL.
    Citations Annu Rev Biochem 1997, 66:511-548.
    PubMedID 97227280
     
    Title Clathrin.
    Authors Kirchhausen T.
    Citations Annu Rev Biochem 2000; 69: 699-727.
    PubMedID 97227280
     
    Title Structural domains of clathrin heavy chains.
    Authors Kirchhausen T, Harrison SC
    Citations J Cell Biol 1984; 99: 1725-1734.
    PubMedID 85030579
     
    Title Clathrin heavy chain: molecular cloning and complete primary structure.
    Authors Kirchhausen T, Harrison SC, Chow EP, Mattaliano RJ, Ramachandran KL, Smart J, Brosius J.
    Citations Proc Natl Acad Sci U S A 1987; 84: 8805-8809.
    PubMedID 88097376