Description: Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA. RefSeq Summary (NM_014781): The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]. Transcript (Including UTRs) Position: hg19 chr8:53,535,018-53,627,026 Size: 92,009 Total Exon Count: 24 Strand: - Coding Region Position: hg19 chr8:53,536,342-53,598,029 Size: 61,688 Coding Exon Count: 22
ID:RBCC1_HUMAN DESCRIPTION: RecName: Full=RB1-inducible coiled-coil protein 1; AltName: Full=FAK family kinase-interacting protein of 200 kDa; Short=FIP200; FUNCTION: 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. Involved in autophagy. Required for autophagosome formation (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 activity and activation of downstream signaling pathways. SUBUNIT: Part of a complex consisting of ATG13/KIAA0652, ULK1 and RB1CC1. This complex associates with ATG101. Interacts with PTK2/FAK1 and PTK2B/PYK2. INTERACTION: O75143:ATG13; NbExp=5; IntAct=EBI-1047793, EBI-2798775; A7MCY6:TBKBP1; NbExp=2; IntAct=EBI-1047793, EBI-359969; O75385:ULK1; NbExp=4; IntAct=EBI-1047793, EBI-908831; SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytosol. Preautophagosomal structure (By similarity). 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 (By similarity). 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. DEVELOPMENTAL STAGE: 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. MISCELLANEOUS: Probably involved in the tumorigenesis of breast cancer. RB1CC1 is frequently mutated in breast cancer and shows characteristics of a classical tumor suppressor gene. SEQUENCE CAUTION: Sequence=BAA13194.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8TDY2
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
