Overview

Location [1]
10p12.1
Protein [2]
Abl interactor 1
Synonyms [1]
NAP1BP, SSH3BP, SSH3BP1, E3B1, ABLBP4, ABI-1

Abl-interactor 1 (ABI1) is a gene that encodes an adapter protein that functions in signal transduction, the regulation of actin polymerization, and cytoskeletal remodeling. These functions are achieved via the interaction of the protein with Abelson tyrosine kinases. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

ABI1 is altered in 0.08% of all cancers with lung adenocarcinoma, acute myeloid leukemia, bladder urothelial carcinoma, breast invasive ductal carcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

ABI1 GENIE Cases - Top Diseases

The most common alteration in ABI1 is ABI1 K445N (0.26%) [3].

ABI1 GENIE Cases - Top Alterations

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.