CLTCL1 (clathrin heavy polypeptide-like 1)
2003-08-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
CHC22,CLH22,CLTCL,CLTD
FUSION GENES
DNA/RNA
Transcription
5564 bp mRNA
Proteins
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 name
Note
CLTCL1/ALK may in fact be cases of CLTC/ALK
Disease
? found in a case of ALK+ anaplasic large cell lymphoma
Fusion 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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9147638 | 1997 | Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. | Holmes SE et al |
| 8733129 | 1996 | Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11. | Kedra D et al |
| 10966473 | 2000 | Clathrin. | Kirchhausen T et al |
| 8844170 | 1996 | Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL). | Long KR et al |
| 9242916 | 1997 | Clathrin-coated vesicle formation and protein sorting: an integrated process. | Schmid SL et al |
| 8733128 | 1996 | Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome. | Sirotkin H et al |
| 10807789 | 2000 | 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 et al |
Other Information
Locus ID:
NCBI: 8218
MIM: 601273
HGNC: 2093
Ensembl: ENSG00000070371
Variants:
dbSNP: 8218
ClinVar: 8218
TCGA: ENSG00000070371
COSMIC: CLTCL1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32620516 | 2020 | Building GLUT4 Vesicles: CHC22 Clathrin's Human Touch. | 15 |
| 32620516 | 2020 | Building GLUT4 Vesicles: CHC22 Clathrin's Human Touch. | 15 |
| 31159924 | 2019 | Genetic diversity of CHC22 clathrin impacts its function in glucose metabolism. | 10 |
| 31159924 | 2019 | Genetic diversity of CHC22 clathrin impacts its function in glucose metabolism. | 10 |
| 29402896 | 2018 | Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development. | 7 |
| 29402896 | 2018 | Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development. | 7 |
| 29097553 | 2017 | CHC22 and CHC17 clathrins have distinct biochemical properties and display differential regulation and function. | 12 |
| 29097553 | 2017 | CHC22 and CHC17 clathrins have distinct biochemical properties and display differential regulation and function. | 12 |
| 26068709 | 2015 | A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development. | 21 |
| 26068709 | 2015 | A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development. | 21 |
| 22360420 | 2012 | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. | 24 |
| 22891263 | 2012 | Clathrin promotes centrosome integrity in early mitosis through stabilization of centrosomal ch-TOG. | 26 |
| 22360420 | 2012 | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. | 24 |
| 22891263 | 2012 | Clathrin promotes centrosome integrity in early mitosis through stabilization of centrosomal ch-TOG. | 26 |
| 20065094 | 2010 | The clathrin heavy chain isoform CHC22 functions in a novel endosomal sorting step. | 29 |
Citation
Jean-Loup Huret
CLTCL1 (clathrin heavy polypeptide-like 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-08-01
Online version: http://atlasgeneticsoncology.org/gene/361/cltcl1
Historical Card
2001-08-01 CLTCL1 (clathrin heavy polypeptide-like 1) by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
