Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Protein Name: | ROBO1 |
Gene Name: | ROBO1 |
Protein Full Name: | Roundabout homolog 1 |
Alias: | Axon guidance receptor; Deleted in U twenty twenty; DUTT1; FLJ21882; H-Robo-1; Roundabout 1; Roundabout homolog 1 precursor; Roundabout, axon guidance receptor, 1; Roundabout, axon guidance receptor, homolog 1 (Drosophila); SAX3 |
Mass (Da): | 180930 |
Number AA: | 1651 |
UniProt ID: | Q9Y6N7 |
Locus ID: | 6091 |
COSMIC ID: | ROBO1 |
Gene location on chromosome: | 3p12.3 |
Cancer protein type: | OP/TSP |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | MIXED |
Number of cancer specimens: | 19602 |
Percent of cancer specimens with mutations: | 1.83 |
Gene undergoes hypermethylation: | Breast carcinomas; clear cell renal cell carcinomas |
Normal role description: | ROBO1 is a member of the immunoglobulin gene superfamily and encodes for an integral membrane receptor that functions in axon guidance and neuronal precursor cell migration. It is activated upon binding of SLIT1 and SLIT2, resulting in a repulsive effect on glioma cell guidance in the developing brain. It may be required for lung development, and ROBO/SLIT interactions may be involved in angiogenic mechanisms. The gene has been found to be up-regulated in some cancers but down-regulated in others, and chromosome deletions and hypermethylation of the CpG sites have been observed in lung- & cervical cancer, and breast cancer & clear cell renal cell carcinomas, respectively. |