HIP1
MIM.601767 7q11.23
HIP1 is a peptide that shares similarity to the budding yeast Sla2p, which is involved in cytoskeleton function.
The identification of the huntingtin-interacting protein (HIP1)provides further supporting evidence for the role of huntingtin HD in the organization of the cytoskeleton and microtubule-based transport.
HIP1 interacts with huntingtin-interacting protein interactor (HIPPI), which is homologous to the C. reinhardtii intraflagellar transport IFT.
Pathology
PDGFRB/HIP1 fusion gene by t(5;7)(q33;q11) (PDGFRB at 5q33 and HIP1 at 7q11) in chronic myelomonocytic leukemia (CMML)
- The fusion gene encoded amino acids 1 to 950 of HIP1 joined in-frame to the transmembrane and tyrosine kinase domains of the PDGFRB gene. The reciprocal PDGFRB/HIP1 transcript was not expressed.
- The fusion protein product is a 180-kD protein when expressed in a murine hematopoietic cell line and was constitutively tyrosine phosphorylated.
- The fusion gene transformed the same mouse hematopoietic cell line to interleukin-3-independent growth.
References
Hyun TS, Ross TS. HIP1: trafficking roles and regulation of tumorigenesis. Trends Mol Med. 2004 Apr;10(4):194-9. PMID: #15059611#
Ross, T. S.; Bernard, O. A.; Berger, R.; Gilliland, D. G. : Fusion of huntingtin interacting protein 1 to platelet-derived growth factor-beta receptor (PDGF-beta-R) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2). Blood 91: 4419-4426, 1998. PubMed ID : #9616134#