| Gene Symbol |
RB1CC1
|
| Entrez Gene |
9821
|
| Alt Symbol |
ATG17, CC1, FIP200, PPP1R131
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
RB1-inducible coiled-coil 1
|
| Other Description |
200 kDa FAK family kinase-interacting protein|FAK family kinase-interacting protein of 200 kDa|RB1-inducible coiled-coil protein 1|phosphatase 1, regulatory subunit 131
|
| Swissprots |
Q8TDY2 Q92601 Q86YR4 Q8WVU9
|
| Accessions |
EAW86719 EAW86720 EAW86721 Q8TDY2 AB059622 BAB69690 AK291699 BAF84388 AK294579 BAG57770 AK307436 AY173931 AAO17545 BC017556 AAH17556 BC032074 D86958 BAA13194 DA326842 DQ892402 ABM83328 Z35085 XM_011517643 XP_011515945 XM_011517644 XP_011515946 XM_011517645 XP_011515947 XM_011517646 XP_011515948 XM_011517647 XP_011515949 XM_011517648 XP_011515950 XM_011517649 XP_011515951 XM_011517650 XP_011515952 XR_928826 NM_001083617 NP_001077086 NM_014781 NP_055596
|
| 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 downstre
|
| Subcellular Location |
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}.
|
| 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:0000269|PubMed:11850849, ECO:0000269|PubMed:12163359}.
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