CLTCL1 Gene 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]

Details

Type
Protein Coding
Official Symbol
CLTCL1
Official Name
clathrin heavy chain like 1 [Source:HGNC Symbol;Acc:HGNC:2093]
Ensembl ID
ENSG00000070371
Bio databases IDs NCBI: 8218 Ensembl: ENSG00000070371
Aliases clathrin heavy chain like 1
Synonyms
CHC22,clathrin heavy chain like 1,CLH22,CLTCL,CLTD
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • clathrin trimerization domain
  • Clathrin-H-link
  • Clathrin propeller repeat
  • Region in Clathrin and VPS
  • protein binding
  • Clathrin heavy chain repeat homology
  • Clathrin, heavy-chain linker

Pathways

Biological processes and signaling networks where the CLTCL1 gene plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • androgenic alopecia
  • infection by Dengue virus 2
regulated by
  • interferon alpha
  • ESR1
  • E2F1
  • N-[N-(3,5-difluorophenacetyl-L-Ala)]-S-phenylglycine t-butyl ester
  • genistein
  • TNF
  • WWTR1-AS1
regulates
role in cell
  • signaling in
  • entrance

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • spindle apparatus
  • Nucleus
  • vesicles
  • granules
  • cytosol
  • trans Golgi network
  • neuromuscular junctions
  • Z line
  • late endosomes
  • clathrin-coated pits
  • sorting endosomes
  • clathrin-coated vesicles

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the CLTCL1 gene, providing context for its role in the cell.

biological PROCESS

Functions and activities the gene product is involved in
  • positive regulation of glucose import
  • anatomical structure morphogenesis
  • intracellular protein transport
  • retrograde transport, endosome to Golgi
  • receptor-mediated endocytosis
  • mitotic cell cycle

cellular COMPONENT

Where in the cell the gene product is active
  • clathrin coat of trans-Golgi network vesicle
  • late endosome
  • clathrin-coated endocytic vesicle
  • plasma membrane
  • early endosome
  • trans-Golgi network
  • extracellular vesicular exosome
  • coated pit
  • membrane
  • spindle
  • cytosol
  • recycling endosome
  • clathrin-coated vesicle
  • clathrin complex
  • coated vesicle

molecular FUNCTION

What the gene product does at the molecular level
  • clathrin light chain binding
  • protein binding
  • structural molecule activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.