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HIP1

The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Protein class

Cancer-related genes, Disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enriched (Late spermatids)

Immune cell specificity

Group enriched (basophil, neutrophil, eosinophil, plasmacytoid DC, NK-cell)

Cell line specificity

Cell line enhanced (A549)

Interaction

Homodimer. Binds actin. Binds HTT (via N-terminus). This interaction is restricted to the brain. Binds to IFT57. In normal conditions, it poorly interacts with IFT57, HIP1 being strongly associated with HTT. However, in mutant HTT proteins with a long poly-Gln region, interaction between HTT and HIP1 is inhibited, promoting the interaction between HIP1 and IFT57. Interacts with CLTB (via N-terminus). Interacts (via coiled coil domain) with AR. Interacts with AP2A1, AP2A2, CLTC and HIP1R. Interacts with GRIA1, GRIN2A AND GRIN2B.

Molecular function

Actin-binding, Activator

More Types Infomation

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