clathrin heavy chain 2; CLH-22 (CLTCL1 CLH22 CLTCL CLTD)

Function

• clathrin is the major protein of the polyhedral coat of coated pits & vesicles
• 2 different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network (putative)
• clathrin triskelions, composed of 3 heavy chains & 3 light chains, are the basic subunits of the clathrin coat
• in the presence of light chains, hub assembly is influenced by both the pH & the concentration of Ca+2 (putative)

Structure

• the C-terminal third of the heavy chains forms the hub of the triskelion; this region contains the trimerization domain & the light-chain binding domain involved in the assembly of the clathrin lattice
• belongs to the clathrin heavy chain family

Compartment

• cytoplasmic vesicle membrane
• peripheral membrane protein; cytoplasmic side (putative)
• coated pit
• cytoplasmic face of coated pits & vesicles

Alternative splicing

named isoforms=2

Expression

• maximal levels in skeletal muscle
• high levels in heart & testis
• low expression detected in all other tissues

Pathology

• CLTCL1 may play a role in the hypotonia seen in velocardiofacial syndrome

More general terms

• clathrin heavy chain

Additional terms

• clathrin (triskelion)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8218
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8218
• OMIM: https://mirror.omim.org/entry/601273
• UniProt: http://www.uniprot.org/uniprot/P53675.html