CLTC - clathrin heavy chain Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1213

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	References	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	References	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	References	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

CLTC Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CLTC	Q00610	CLTA	Homo sapiens	P09496	Anti Tag CoIP	35271311
Intra	CLTC	Q00610	CLTA	Homo sapiens	P09496	Crosslink	30021884
Intra	CLTC	Q00610	MYB	Homo sapiens	P10242	Anti Bait CoIP	18548008
Intra	CLTC	Q00610	TNK2	Homo sapiens	Q07912	Pull Down	19798056
Intra	CLTC	Q00610	TNK2	Homo sapiens	Q07912	Anti Tag CoIP	26496610
Intra	CLTC	Q00610	OCRL	Homo sapiens	Q01968	SPR	19536138
Intra	CLTC	Q00610	OCRL	Homo sapiens	Q01968	Anti Tag CoIP	26496610
Intra	CLTC	Q00610	OCRL	Homo sapiens	Q01968	Pull Down	16902405
Intra	CLTC	Q00610	ARRB2	Homo sapiens	P32121	FPS	37100772
Intra	CLTC	Q00610	ARRB2	Homo sapiens	P32121	Phage Display	35044719
Intra	CLTC	Q00610	PAAT	Homo sapiens	Q9H8K7	Anti Tag CoIP	26496610
Intra	CLTC	Q00610	DLGAP5	Homo sapiens	Q15398	X-Ray Diffraction	37219487
Intra	CLTC	Q00610	DLGAP5	Homo sapiens	Q15398	Anti Tag CoIP	37219487
Intra	CLTC	Q00610	DLGAP5	Homo sapiens	Q15398	FPS	37219487
Intra	CLTC	Q00610	DLGAP5	Homo sapiens	Q15398	ITC	37219487
Cross	CLTC	Q00610	poln_eeev8	Eastern equine encephalitis virus	Q306W8	Phage Display	37100772
Cross	CLTC	Q00610	poln_eeev8	Eastern equine encephalitis virus	Q306W8	X-Ray Diffraction	37100772
Cross	CLTC	Q00610	poln_eeev1	Eastern equine encephalitis virus	Q306W6	FPS	37219487

Cross: Cross-species interaction Intra: Intraspecies interaction

CLTC Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80086	Clathrin Heavy Chain Antibody (YA501)	WB, IHC-P	Human, Mouse, Rat
HY-P86581	Clathrin Heavy Chain Antibody (YA6273)	WB, IHC-P, ICC/IF, ELISA	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02845	CLTC Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21314	Cltc Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27833	Cltc Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CLTC	NCBI