RB1CC1: a putative transcription factor that functions as a key regulator of Rb expression. Required for autophagosome formation. Contains a nuclear localization signal, a leucine zipper motif and a coiled-coil structure. Thought to play a biological role in controlling cell growth and progression of various cancers. Probably involved in the tumorigenesis of breast cancer. It is frequently mutated in breast cancer and shows characteristics of a classical tumor suppressor gene. Plays a crucial role in muscular differentiation and required for myogenic differentiation. Part of a complex consisting of ATG13, ULK1 and RB1CC1. This complex associates with ATG101. Under starvation conditions, is localized to phagophores. Expression levels correlated closely with those of RB1 in cancer cell lines as well as in various normal human tissues. Abundantly expressed in human musculoskeletal and cultured osteosarcoma cells. Expression was difficult to detect in immature proliferating chondroblasts or myogenic cells in embryos, but became obvious and prominent concomitantly with the maturation of osteocytes, chondrocytes, and skeletal muscle cells. Expression in these musculoskeletal cells increased with RB1 expression, which is linked to the terminal differentiation of many tissues and cells. The introduction of the wild-type protein decreased the formation of macroscopic colonies in a cell growth assay.
Protein type: Autophagy; Transcription factor; Tumor suppressor; DNA-binding
Chromosomal Location of Human Ortholog: 8q11
Cellular Component: nuclear membrane; cytoplasm; pre-autophagosomal structure membrane; cytosol
Molecular Function: protein binding; protein kinase binding
Biological Process: positive regulation of cell size; transcription, DNA-dependent; regulation of transcription, DNA-dependent; heart development; JNK cascade; regulation of autophagy; positive regulation of protein amino acid phosphorylation; liver development; cell cycle; autophagic vacuole formation
Disease: Breast Cancer
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