Description: Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA. RefSeq Summary (NM_015905): The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr7:138,145,079-138,270,332 Size: 125,254 Total Exon Count: 19 Strand: + Coding Region Position: hg19 chr7:138,145,294-138,269,696 Size: 124,403 Coding Exon Count: 19
ID:TIF1A_HUMAN DESCRIPTION: RecName: Full=Transcription intermediary factor 1-alpha; Short=TIF1-alpha; EC=6.3.2.-; AltName: Full=E3 ubiquitin-protein ligase TRIM24; AltName: Full=RING finger protein 82; AltName: Full=Tripartite motif-containing protein 24; FUNCTION: Transcriptional coactivator that interacts with numerous nuclear receptors and coactivators and modulates the transcription of target genes. Interacts with chromatin depending on histone H3 modifications, having the highest affinity for histone H3 that is both unmodified at 'Lys-4' (H3K4me0) and acetylated at 'Lys-23' (H3K23ac). Has E3 protein-ubiquitin ligase activity. Promotes ubiquitination and proteasomal degradation of p53/TP53. Plays a role in the regulation of cell proliferation and apoptosis, at least in part via its effects on p53/TP53 levels. Up-regulates ligand-dependent transcription activation by AR, GCR/NR3C1, thyroid hormone receptor (TR) and ESR1. Modulates transcription activation by retinoic acid (RA) receptors, including RARA. Plays a role in regulating retinoic acid-dependent proliferation of hepatocytes (By similarity). PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Interacts with CARM1, NCOA2/GRIP1, PML, KAT5/TIP60, BRD7, CBX1, CBX3 and CBX5. Part of a coactivator complex containing TRIM24, NCOA2 and CARM1 (By similarity). Interacts with NR3C2/MCR. Interacts with the ligand-binding domain of estrogen receptors (in vitro). Interaction with DNA-bound estrogen receptors requires the presence of estradiol. Interacts with AR and p53/TP53. Interacts (via bromo domain) with histone H3 (via N-terminus), provided that it is not methylated at 'Lys-4' (H3K4me0). Does not interact with histone H3 that is methylated at 'Lys-4' (H3K4me1, H3K4me2 or H3K4me3). Interacts (via bromo domain) with histone H3 (via N- terminus) that is acetylated at 'Lys-23' (H3K23ac). Has the highest affinity for histone H3 that is both unmodified at 'Lys-4' (H3K4me0) and acetylated at 'Lys-23' (H3K23ac). Has very low affinity for histone H3 that is methylated at 'Lys-9' (H3K9me), or acetylated at both 'Lys-9' (H3K9ac) and 'Lys-14' (H3K14ac), or acetylated at 'Lys-27' (H3K27ac) (in vitro). SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Colocalizes with sites of active transcription. Detected both in nucleus and cytoplasm in some breast cancer samples. Predominantly nuclear. INDUCTION: Up-regulated in some cases of breast cancer. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. PTM: Sumoylated (By similarity). DISEASE: Defects in TRIM24 are a cause of thyroid papillary carcinoma (TPC) [MIM:188550]. TPC is a common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=A chromosomal aberration involving TRIM24/TIF1 is found in thyroid papillary carcinomas. Translocation t(7;10)(q32;q11) with RET. The translocation generates the TRIM24/RET (PTC6) oncogene. SIMILARITY: Contains 2 B box-type zinc fingers. SIMILARITY: Contains 1 bromo domain. SIMILARITY: Contains 1 PHD-type zinc finger. SIMILARITY: Contains 1 RING-type zinc finger. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TRIM24ID504ch7q34.html";
Genetic Association Studies of Complex Diseases and Disorders
Body Weight Jennifer K Lowe et al. PLoS genetics 2009, Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae., PLoS genetics.
[PubMed 19197348]
quantitative traits Lowe ,et al. 2009, Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae, PLoS genetics 2009 5- 2 : e1000365.
[PubMed 19197348]
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 O15164
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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.
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0006468 protein phosphorylation GO:0008285 negative regulation of cell proliferation GO:0010628 positive regulation of gene expression GO:0016567 protein ubiquitination GO:0018108 peptidyl-tyrosine phosphorylation GO:0030163 protein catabolic process GO:0031647 regulation of protein stability GO:0042981 regulation of apoptotic process GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0046777 protein autophosphorylation GO:0055074 calcium ion homeostasis GO:0070562 regulation of vitamin D receptor signaling pathway GO:0071391 cellular response to estrogen stimulus GO:1901796 regulation of signal transduction by p53 class mediator
US Server
