The FAM123A (family with sequence similarity 123A) gene encodes for a 671 amino acid protein. There are two isoforms of FAM123A that exist as a result of alternative splicing events. The gene encoding FAM123A is located on chromosome 13, which comprises nearly 4% of human DNA and contains about 114 million base pairs and 400 genes. Key tumor suppressor genes on chromosome 13 include the breast cancer susceptibility gene, BRCA2, and the RB1 (retinoblastoma) gene. RB1 encodes a crucial tumor suppressor protein which, when defective, leads to malignant growth in the retina and has been implicated in a variety of other cancers. The gene SLITRK1, which is associated with Tourette syndrome, is on chromosome 13. As with most chromosomes, polysomy of part or all of chromosome 13 is deleterious to development and decreases the odds of survival.
Function:
Negative regulator of the canonical Wnt signaling pathway involved in neuroectodermal patterning. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex.
Subunit:
Interacts with APC.
Subcellular Location:
Cell membrane; Peripheral membrane protein. Note=Translocates to the cell membrane following binding to PtdIns(4,5)P2.
Similarity:
Belongs to the FAM123 family.
SWISS:
Q8N7J2
Gene ID:
219287
Database links:
Entrez Gene: 219287 Human
SwissProt: Q8N7J2 Human
Unigene: 528335 Human
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