CLTCL1 (clathrin heavy polypeptide-like 1)

2003-08-01 Jean-Loup Huret Affiliation

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC

CLTCL1

LOCATION

22q11.21

LOCUSID

8218

ALIAS

CHC22,CLH22,CLTCL,CLTD

FUSION GENES

Show Gene Fusions

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

? 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

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

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

Gene ID	Transcript ID	Uniprot
ENSG00000070371	ENST00000427926	P53675
ENSG00000070371	ENST00000449918	F5H5N6
ENSG00000070371	ENST00000458188	H0Y529
ENSG00000070371	ENST00000538828	H0YGJ9
ENSG00000070371	ENST00000617103	A0A087WX41
ENSG00000070371	ENST00000617926	A0A087WXH4
ENSG00000070371	ENST00000621271	P53675
ENSG00000070371	ENST00000622493	A0A087WV74

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Huntington's disease	KEGG	ko05016
Huntington's disease	KEGG	hsa05016
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Endocytosis	KEGG	ko04144
Endocytosis	KEGG	hsa04144
Bacterial invasion of epithelial cells	KEGG	ko05100
Bacterial invasion of epithelial cells	KEGG	hsa05100
Endocrine and other factor-regulated calcium reabsorption	KEGG	ko04961
Endocrine and other factor-regulated calcium reabsorption	KEGG	hsa04961
Synaptic vesicle cycle	KEGG	ko04721
Synaptic vesicle cycle	KEGG	hsa04721
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Gap junction trafficking and regulation	REACTOME	R-HSA-157858
Gap junction trafficking	REACTOME	R-HSA-190828
Gap junction degradation	REACTOME	R-HSA-190873
Formation of annular gap junctions	REACTOME	R-HSA-196025
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
EPH-Ephrin signaling	REACTOME	R-HSA-2682334
EPH-ephrin mediated repulsion of cells	REACTOME	R-HSA-3928665
Clathrin-mediated endocytosis	REACTOME	R-HSA-8856828
Cargo recognition for clathrin-mediated endocytosis	REACTOME	R-HSA-8856825

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
19478182	2009	A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolism.	47
20065094	2010	The clathrin heavy chain isoform CHC22 functions in a novel endosomal sorting step.	26
15133132	2004	Clathrin isoform CHC22, a component of neuromuscular and myotendinous junctions, binds sorting nexin 5 and has increased expression during myogenesis and muscle regeneration.	23
26068709	2015	A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.	19
22360420	2012	Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.	18
22891263	2012	Clathrin promotes centrosome integrity in early mitosis through stabilization of centrosomal ch-TOG.	16
29097553	2017	CHC22 and CHC17 clathrins have distinct biochemical properties and display differential regulation and function.	9
31159924	2019	Genetic diversity of CHC22 clathrin impacts its function in glucose metabolism.	4
29402896	2018	Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development.	3

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