Sequence homology: Cow: 77%; Dog: 93%; Guinea Pig: 85%; Horse: 86%; Human: 100%; Mouse: 91%; Rabbit: 93%
The product of this gene is a membrane-associated protein that colocalizes with huntingtin. This protein has similarities to cytoskeleton proteins and its interaction with huntingtin is thought to play a functional role in the cell filament network. Loss of normal huntingtin-HIP1 interaction in Huntington disease may contribute to a defect in membrane-cytoskeletal integrity in the brain. This gene could help in the understanding of the normal function of huntingtin and also the pathogenesis of Huntington disease. It also has been implicated in the pathogenesis of hematopoietic malignancies. An alternative splice variant of this gene has been described but its full length sequence has not been determined.
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Protein Aliases: ankyrin repeat domain 27 (VPS9 domain); Ankyrin repeat domain-containing protein 27; Vps9 domain and ankyrin-repeat-containing protein; VPS9 domain-containing protein; VPS9-ankyrin-repeat protein
Gene Aliases: ANKRD27; PP12899; VARP
UniProt ID: (Human) Q96NW4
Entrez Gene ID: (Human) 84079