CLTCL1 - clathrin heavy chain like 1 Gene

Homo sapiens

Also known as CLTD; CHC22; CLH22; CLTCL

Gene ID: 8218 | Gene type: protein coding

About CLTCL1

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,179,473-19,291,719 (from NCBI)

This gene has 12 transcripts (splice variants), 167 orthologues, 2 paralogues and is associated with 76 phenotypes. Biased expression in testis (RPKM 21.0), bone marrow (RPKM 6.6) and 8 other tissues.

Summary

This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

CLTCL1 Products(2)

mRNA	Protein	Name
NM_001835.4	NP_001826.3	clathrin heavy chain 2 isoform 2
NM_007098.4	NP_009029.3	clathrin heavy chain 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19478182	GOA

Biological Process GO Annotation	Evidence	Reference	Source
NOT involved in mitotic cell cycle	IDA IDA: Inferred from direct assay	20065094	GOA
involved in mitotic cell cycle	IDA IDA: Inferred from direct assay	19509056	GOA
involved in positive regulation of D-glucose import	IMP IMP: Inferred from mutant phenotype	19478182	GOA
involved in receptor-mediated endocytosis	IDA IDA: Inferred from direct assay	19509056	GOA
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	20065094	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in clathrin-coated pit	IDA IDA: Inferred from direct assay	19509056	GOA
located in clathrin-coated vesicle	IDA IDA: Inferred from direct assay	19478182	GOA
located in coated vesicle	IDA IDA: Inferred from direct assay	19509056	GOA
NOT located in early endosome	IDA IDA: Inferred from direct assay	20065094	GOA
located in late endosome	IDA IDA: Inferred from direct assay	20065094	GOA
NOT located in plasma membrane	IDA IDA: Inferred from direct assay	20065094	GOA
NOT located in recycling endosome	IDA IDA: Inferred from direct assay	20065094	GOA
located in sorting endosome	IDA IDA: Inferred from direct assay	20065094	GOA
located in spindle	IDA IDA: Inferred from direct assay	19509056	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	19509056	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLTCL1 Protein Structure

Clathrin_propel

Clathrin-link

Clathrin_H_link

Clathrin

0
300
600
900
1200
1500
1640 a.a.

Protein Preferred Names

Protein Names

clathrin heavy chain 2

CLH-22

Related Diseases

Diseases

Alias

Congenital Insensitivity To Pain With Severe Intellectual Disability

Congenital Absence Of Pain With Severe Intellectual Disability	Congenital Analgesia With Severe Intellectual Disability
Congenital Insensitivity To Pain With Preserved Temperature Sensation	Congenital Insensitivity To Pain With Severe Non-Progressive Cognitive Delay

Chronic Dacryocystitis

Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome	DGS
Hypoplasia Of Thymus And Parathyroids	Third And Fourth Pharyngeal Pouch Syndrome
22q11.2 Deletion Syndrome	Digeorge Sequence
Digeorge'S Syndrome	Pharyngeal Pouch Syndrome
Di-George Syndrome	Shprintzen Syndrome

Neuropathy, Hereditary Sensory And Autonomic, Type Iib

HSAN2B	Hereditary Sensory And Autonomic Neuropathy Type 2b
Hereditary Sensory And Autonomic Neuropathy Type Iib	Neuropathy, Hereditary Sensory And Autonomic, Type 2b
Neuropathy, Hereditary Sensory And Autonomic, 2b	Neuropathy, Sensory And Autonomic, Hereditary, Type Iib

Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome	22q11.2 Microduplication Syndrome
22q11.2 Duplication Syndrome	Duplication 22q11.2
Trisomy 22q11.2	22q11.2 Duplication
Dup(22)(Q11)

Ichthyosis, Congenital, Autosomal Recessive 9

Autosomal Recessive Congenital Ichthyosis 9	ARCI9
Ichthyosis, Congenital, Autosomal Recessive, Type 9

Olfactory Groove Meningioma

Meningioma Of The Olfactory Groove

Acute Inflammation Of Lacrimal Passage

Dacryocystitis

Nasolacrimal Sac Infection

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

Velocardiofacial Syndrome

Shprintzen Syndrome	VCFS
Chromosome 22q11.2 Deletion Syndrome	Vcf Syndrome
Shprintzen Vcf Syndrome	Vcf-Velocardiofacial Syndrome
Velo-Cardio-Facial Syndrome	Digeorge Syndrome
22q11 Deletion Syndrome	Conotruncal Anomaly Face Syndrome

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02846	CLTCL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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