CLTCL1 (clathrin heavy polypeptide-like 1)

2003-08-01   Jean-Loup Huret  

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

Article Bibliography

Pubmed IDLast YearTitleAuthors
91476381997Disruption 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
87331291996Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11.Kedra D et al
109664732000Clathrin.Kirchhausen T et al
88441701996Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL).Long KR et al
92429161997Clathrin-coated vesicle formation and protein sorting: an integrated process.Schmid SL et al
87331281996Isolation 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
108077892000Further 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 IDTranscript IDUniprot
ENSG00000070371ENST00000427926P53675
ENSG00000070371ENST00000449918F5H5N6
ENSG00000070371ENST00000458188H0Y529
ENSG00000070371ENST00000538828H0YGJ9
ENSG00000070371ENST00000617103A0A087WX41
ENSG00000070371ENST00000617926A0A087WXH4
ENSG00000070371ENST00000621271P53675
ENSG00000070371ENST00000622493A0A087WV74

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016
LysosomeKEGGko04142
LysosomeKEGGhsa04142
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Gap junction trafficking and regulationREACTOMER-HSA-157858
Gap junction traffickingREACTOMER-HSA-190828
Gap junction degradationREACTOMER-HSA-190873
Formation of annular gap junctionsREACTOMER-HSA-196025
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPH-ephrin mediated repulsion of cellsREACTOMER-HSA-3928665
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
326205162020Building GLUT4 Vesicles: CHC22 Clathrin's Human Touch.15
326205162020Building GLUT4 Vesicles: CHC22 Clathrin's Human Touch.15
311599242019Genetic diversity of CHC22 clathrin impacts its function in glucose metabolism.10
311599242019Genetic diversity of CHC22 clathrin impacts its function in glucose metabolism.10
294028962018Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development.7
294028962018Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development.7
290975532017CHC22 and CHC17 clathrins have distinct biochemical properties and display differential regulation and function.12
290975532017CHC22 and CHC17 clathrins have distinct biochemical properties and display differential regulation and function.12
260687092015A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.21
260687092015A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.21
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.24
228912632012Clathrin promotes centrosome integrity in early mitosis through stabilization of centrosomal ch-TOG.26
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.24
228912632012Clathrin promotes centrosome integrity in early mitosis through stabilization of centrosomal ch-TOG.26
200650942010The 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/js/lib/gene-fusions/gene-fusions/?id=361

Historical Card

2001-08-01 CLTCL1 (clathrin heavy polypeptide-like 1) by  Jean-Loup Huret 

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