InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RB1CC1

Summary

InnateDB Protein

IDBP-370577.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RB1CC1

Protein Name

RB1-inducible coiled-coil 1

Synonyms

ATG17; CC1; FIP200; PPP1R131;

Species

Homo sapiens

Ensembl Protein

ENSP00000396067

InnateDB Gene

IDBG-21487 (RB1CC1)

Protein Structure

UniProt Annotation

Function

Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111. Involved in autophagy. Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1. Required for the formation of the autophagosome-like double- membrane structure that surrounds the Salmonella-containing vacuole (SCV) duting S.typhimurium infection and subsequent xenophagy. Autophagy positively regulates repair of DNA damage induced by ionizing radiation and negatively regulates apoptosis. Plays an indispensible role in fetal hematopoiesis and in the regulation of neuronal homeostasis (By similarity). Implicated in the regulation of RB1 expression. Functions as a DNA-binding transcription factor. Is a potent regulator of the RB1 pathway and a mediator that plays a crucial role in muscular differentiation. Expression is, thus, a prerequisite for myogenic differentiation. Inhibits PTK2/FAK1 and PTK2B/PYK2 activity and activation of downstream signaling pathways. {ECO:0000250, ECO:0000269PubMed:10769033, ECO:0000269PubMed:12095676, ECO:0000269PubMed:12163359, ECO:0000269PubMed:12221124, ECO:0000269PubMed:14533007, ECO:0000269PubMed:21775823, ECO:0000269PubMed:23262492}.

Subcellular Localization

Nucleus. Cytoplasm, cytosol. Preautophagosomal structure membrane; Peripheral membrane protein. Note=Under starvation conditions, is localized to puncate structures primarily representing the isolation membrane that sequesters a portion of the cytoplasm resulting in the formation of an autophagosome. {ECO:0000250}.

Disease Associations

Tissue Specificity

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. {ECO:0000269PubMed:11850849, ECO:0000269PubMed:12163359}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 81 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.