CLTC - clathrin heavy chain Gene

Homo sapiens

Also known as Hc; CHC; CHC17; MRD56; CLH-17; CLTCL2

Gene ID: 1213 | Gene type: protein coding

About CLTC

Cytogenetic location: 17q23.1 Genomic coordinates (GRCh38): 17:59,619,895-59,696,956 (from NCBI)

This gene has 23 transcripts (splice variants), 298 orthologues, 2 paralogues and is associated with 93 phenotypes. Ubiquitous expression in brain (RPKM 67.0), thyroid (RPKM 49.4) and 25 other tissues.

Summary

Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three LIGHT chains. [provided by RefSeq, Jul 2008]

CLTC Products(2)

mRNA	Protein	Name
NM_001288653.2	NP_001275582.1	clathrin heavy chain 1 isoform 2
NM_004859.4	NP_004850.1	clathrin heavy chain 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables clathrin light chain binding	IPI IPI: Inferred from physical interaction	4066749	GOA
enables disordered domain specific binding	IPI IPI: Inferred from physical interaction	11756460	GOA
enables double-stranded RNA binding	IDA IDA: Inferred from direct assay	21266579	GOA
enables low-density lipoprotein particle receptor binding	IPI IPI: Inferred from physical interaction	26005850	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12429846	GOA
enables ubiquitin-specific protease binding	IPI IPI: Inferred from physical interaction	26756164	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in amyloid-beta clearance by transcytosis	IMP IMP: Inferred from mutant phenotype	26005850	GOA
involved in clathrin coat assembly	IMP IMP: Inferred from mutant phenotype	11756460	GOA
involved in clathrin-dependent endocytosis	IMP IMP: Inferred from mutant phenotype	26005850	GOA
involved in mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	15858577	GOA
involved in negative regulation of hyaluronan biosynthetic process	IDA IDA: Inferred from direct assay	24251095	GOA
involved in negative regulation of hyaluronan biosynthetic process	IMP IMP: Inferred from mutant phenotype	23509262	GOA
involved in negative regulation of protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	19581412	GOA
involved in receptor internalization	IMP IMP: Inferred from mutant phenotype	14985334	GOA
involved in receptor-mediated endocytosis	IMP IMP: Inferred from mutant phenotype	15858577	GOA
involved in regulation of mitotic spindle organization	IMP IMP: Inferred from mutant phenotype	21297582	GOA
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	20065094	GOA
involved in transferrin transport	IMP IMP: Inferred from mutant phenotype	14985334	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of clathrin coat	IMP IMP: Inferred from mutant phenotype	11756460	GOA
part of clathrin complex	IDA IDA: Inferred from direct assay	4066749	GOA
located in clathrin-coated vesicle	IDA IDA: Inferred from direct assay	19478182	GOA
located in mitotic spindle microtubule	IDA IDA: Inferred from direct assay	21297582	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	21266579	GOA
located in spindle	IDA IDA: Inferred from direct assay	15858577	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

CLTC Protein Structure

Clathrin_propel

Clathrin-link

Clathrin_H_link

Clathrin

0
300
600
900
1200
1500
1675 a.a.

Protein Preferred Names

Protein Names

clathrin heavy chain 1

clathrin heavy chain on chromosome 17

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Dominant 56

Mental Retardation, Autosomal Dominant 56	MRD56
Autosomal Dominant Mental Retardation 56	Autosomal Dominant Intellectual Developmental Disorder 56
Autosomal Dominant Intellectual Developmental Disorder-56

Autosomal Dominant Non-Syndromic Intellectual Disability

Renal Cell Carcinoma, Xp11-Associated

RCCX1	Mit Family Translocation Renal Cell Carcinoma
Renal Cell Carcinoma, Papillary, 1	Carcinoma Associated With Mitf/Tfe Translocation
Translocation Renal Cell Carcinoma	Renal Cell Carcinoma Xp11-Associated
Renal Cell Carcinoma Papillary 1	Carcinoma, Renal Cell, Xp11-Associated

Noonan Syndrome 3

NS3	Noonan Syndrome, Type 3

Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Pulmonary Plasma Cell Granuloma

Plasma Cell Granuloma, Pulmonary	Granuloma, Plasma Cell, Pulmonary
Lymphocytic Pseudotumor Of Lung	Sclerosing Hemangiocytoma Of Lung

Epithelioid Inflammatory Myofibroblastic Sarcoma

Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive	Arh
FHCL4	Autosomal Recessive Hypercholesterolemia
Arh1	Arh2
Autosomal Recessive Hypercholesterolemia 1	Autosomal Recessive Hypercholesterolemia 2
Fhcb1	Fhcb2
Hypercholesterolemia, Autosomal Recessive, 1, Formerly	Arh1, Formerly
Fhcb1, Formerly	Hypercholesterolemia, Autosomal Recessive, 2, Formerly
Arh2, Formerly	Fhcb2, Formerly
Familial Autosomal Recessive Hypercholesterolemia	Hypercholesterolemia, Familial, Autosomal Recessive
Hypercholesterolemia, Familial, Type 4

Childhood Kidney Cell Carcinoma

Pediatric Renal Cell Carcinoma

Childhood Renal Cell Carcinoma

Alveolar Soft Part Sarcoma

ASPS	Alveolar Soft-Part Sarcoma
Sarcoma, Alveolar Soft Part	Alveolar Soft Tissue Sarcoma
Sarcoma Alveolar Soft Part	Adult Alveolar Soft-Part Sarcoma
Childhood Alveolar Soft-Part Sarcoma

Mesenchymal Cell Neoplasm

Benign Miscellaneous Mesenchymal Tumor	Mesenchymal Tumor
Mesenchymal Tumors

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma	Hereditary Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma, Sporadic	Papillary Renal Cell Adenocarcinoma
RCCP	RCCP1
Renal Cell Carcinoma, Papillary	Renal Cell Carcinoma, Papillary, 1, Familial And Somatic
Chromophil Carcinoma Of Kidney	Papillary Kidney Carcinoma
Sporadic Papillary Renal Cell Carcinoma	Chromophil Renal Cell Carcinoma
Papillary Renal Carcinoma, Malignant -	Papillary Renal Cell Carcinoma, Bilateral -
Papillary Renal Cell Carcinoma, Familial -	Papillary Renal Cell Carcinoma, Multiple -
Papillary Renal Cell Carcinoma, Sporadic -	Renal Adenocarcinoma
Chromophil Rcc	Hprcc
Renal Cell Carcinoma Papillary	Chromophilic Renal Cell Carcinoma
Prcc	Carcinoma, Renal Cell, Papillary, Type 1
Type 1 Papillary Renal Cell Carcinoma	Renal Cell Carcinoma
Hereditary Papillary Renal Carcinoma

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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-RS02845	CLTC Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CLTC	VGNC	VGNC:39367
Mus musculus	CLTC	MGD	MGI:2388633
Bos taurus	CLTC	VGNC	VGNC:27471
Rattus norvegicus	CLTC	RGD	RGD:2364
Felis catus	CLTC	VGNC	VGNC:60984
Macaca mulatta	CLTC	VGNC	VGNC:97754

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