Biomarkers /
HIP1
Overview
Huntingtin interacting protein 1 (HIP1) is a gene that encodes a membrane-associated protein that functions in protein trafficking and clathrin-mediated endocytosis. The protein is also important in the onset of Huntington's disease. Normally, the protein binds to the huntingtin protein in the brain; this associated does not occur in Huntington's disease. Fusions, missense mutations, nonsense mutations, and silent mutations are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.
HIP1 is altered in 0.12% of all cancers with lung adenocarcinoma, acute myeloid leukemia, anaplastic oligoastrocytoma, cancer of unknown primary, and colon adenocarcinoma having the greatest prevalence of alterations [3].
The most common alterations in HIP1 are HIP1-ALK Fusion (0.10%), HIP1-PDGFRB Fusion (0.03%), HIP1-ETV6 Fusion (0.02%), and HIP1-TP53 Fusion (0.04%) [3].
Clinical Trials
Significance of HIP1 in Diseases
References
1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.
4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.