CLTC

Domain

The N-terminal seven-bladed beta-propeller is formed by WD40-like repeats, and projects inward from the polyhedral outer clathrin coat. It constitutes a major protein-protein interaction node.

Function

Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as a component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Plays a role in early autophagosome formation (PubMed:20639872). Interaction with DNAJC6 mediates the recruitment of HSPA8 to the clathrin lattice and creates local destabilization of the lattice promoting uncoating (By similarity).

Involvement in disease

Intellectual developmental disorder, autosomal dominant 56

MRD56

A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the clathrin heavy chain family.

Cellular localization

• Cytoplasmic vesicle membrane
• Peripheral membrane protein
• Cytoplasmic side
• Membrane
• Coated pit
• Peripheral membrane protein
• Cytoplasmic side
• Melanosome
• Cytoplasm
• Cytoskeleton
• Spindle
• Cytoplasmic face of coated pits and vesicles. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In complex with TACC3 and CKAP5 (forming the TACC3/ch-TOG/clathrin complex) localized to inter-microtubule bridges in mitotic spindles.

Alternative names

CLH17, CLTCL2, KIAA0034, CLTC, Clathrin heavy chain 1, Clathrin heavy chain on chromosome 17, CLH-17

Database links

swissprot:Q00610 swissprot:P53675 omim:118955 entrezGene:1213