background:
Huntingtin yeast partner E is a 458 amino acid single-pass membrane protein. HYPE is thought to interact with Huntingtin, a protein which induces neurodegeneration when mutated. HYPE also contains two tetratricopeptide repeats (TPR), which may be involved in protein-protein interaction. The gene that encodes HYPE is located on chromosome 12, which encodes over 1,100 genes within 132 million bases and makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding SLCtype lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.
Function:
Adenylyltransferase that mediates the addition of adenosine 5'-monophosphate (AMP) to specific residues of target proteins. Able to inactivate Rho GTPases in vitro by adding AMP to RhoA, Rac and Cdc42. It is however unclear whether it inactivates GTPases in vivo and physiological substrates probably remain to be identified.
Subunit:
Interacts with HD.
Subcellular Location:
Membrane; Single-pass membrane protein (Potential).
Tissue Specificity:
Ubiquitous.
Similarity:
Belongs to the fic family.
Contains 1 fido domain.
Contains 2 TPR repeats.
Database links:
Entrez Gene: 11153 Human
Entrez Gene: 231630 Mouse
Entrez Gene: 288741 Rat
SwissProt: Q9BVA6 Human
SwissProt: Q8BIX9 Mouse
SwissProt: Q6AY47 Rat
Unigene: 661891 Human
Unigene: 21926 Mouse
Unigene: 162153 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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