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CLTCL1 - clathrin heavy chain like 1 Gene

Also Known as CLTD; CHC22; CLH22; CLTCL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8218

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19478182	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

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 Set	/	Unkown