Overview

Location [1]
7q11.23
Protein [2]
Huntingtin-interacting protein 1
Synonyms [1]
SHON, HIP-I, SHONbeta, ILWEQ, SHONgamma

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 0.04% of all cancers.

Significance of HIP1 in Diseases

Acute Myeloid Leukemia +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

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 6. 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.