Human Gene CITED1 (ENST00000445983.5) from GENCODE V44
Description: Transcriptional coactivator of the p300/CBP-mediated trancription complex. Enhances SMAD-mediated transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the p300/CBP transcription coactivator complex. Stimulates estrogen-dependent transactivation activity mediated by estrogen receptors signaling; stabilizes the interaction of estrogen receptor ESR1 and histone acetyltransferase EP300. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Induces transcription from estrogen-responsive promoters and protection against cell death. Potentiates EGR2-mediated transcriptional activation activity from the ERBB2 promoter. Acts as an inhibitor of osteoblastic mineralization through a cAMP-dependent parathyroid hormone receptor signaling. May play a role in pigmentation of melanocytes. Associates with chromatin to the estrogen-responsive TGF-alpha promoter region in a estrogen-dependent manner. (from UniProt Q99966) RefSeq Summary (NM_001144885): This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]. Gencode Transcript: ENST00000445983.5 Gencode Gene: ENSG00000125931.11 Transcript (Including UTRs) Position: hg38 chrX:72,301,640-72,305,914 Size: 4,275 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chrX:72,301,723-72,302,869 Size: 1,147 Coding Exon Count: 2
ID:CITE1_HUMAN DESCRIPTION: RecName: Full=Cbp/p300-interacting transactivator 1; AltName: Full=Melanocyte-specific protein 1; FUNCTION: Transcriptional coactivator of the p300/CBP-mediated trancription complex. Enhances SMAD-mediated transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the p300/CBP transcription coactivator complex. Stimulates estrogen-dependent transactivation activity mediated by estrogen receptors signaling; stabilizes the interaction of estrogen receptor ESR1 and histone acetyltransferase EP300. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Induces transcription from estrogen-responsive promoters and protection against cell death. Potentiates EGR2-mediated transcriptional activation activity from the ERBB2 promoter. Acts as an inhibitor of osteoblastic mineralization through a cAMP-dependent parathyroid hormone receptor signaling. May play a role in pigmentation of melanocytes. Associates with chromatin to the estrogen-responsive TGF-alpha promoter region in a estrogen-dependent manner. SUBUNIT: Interacts (via C-terminus) with CREBBP. Interacts with EGR2 (By similarity). Homodimer. Binds to RBM14. Interacts (via N- terminus) with HSPA8; the interaction suppresses the association of CITED1 with p300/CBP and SMAD-mediated transcription transactivation. Interacts (via C-terminus) with TOX3 (via HGM box); the interaction increases estrogen-response element (ERE)- dependent transcription and protection against cell death. Interacts with ESR1; the interaction occurs in a estrogen- dependent manner (By similarity). Interacts (unphosphorylated form preferentially and via C-terminus) with EP300. INTERACTION: P03372:ESR1; NbExp=3; IntAct=EBI-2624951, EBI-78473; SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm by a nuclear export signal and (NES) in a CRM1-dependent manner. TISSUE SPECIFICITY: Expressed only in melanocytes and testis. INDUCTION: Up-regulated by GPR39 in neuronal cells. PTM: Phosphorylated. Phosphorylation changes in a cell cycle- dependent manner and reduces its transcriptional coactivator activity. SIMILARITY: Belongs to the CITED family. SEQUENCE CAUTION: Sequence=N30508; Type=Frameshift; Positions=67;
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 Q99966
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0001105 RNA polymerase II transcription coactivator activity GO:0003682 chromatin binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003713 transcription coactivator activity GO:0005515 protein binding GO:0008022 protein C-terminus binding GO:0042803 protein homodimerization activity GO:0044212 transcription regulatory region DNA binding GO:0050693 LBD domain binding GO:0070410 co-SMAD binding
Biological Process: GO:0000578 embryonic axis specification GO:0001570 vasculogenesis GO:0001656 metanephros development GO:0001658 branching involved in ureteric bud morphogenesis GO:0001890 placenta development GO:0003340 negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0006913 nucleocytoplasmic transport GO:0006915 apoptotic process GO:0007179 transforming growth factor beta receptor signaling pathway GO:0007275 multicellular organism development GO:0007420 brain development GO:0008283 cell proliferation GO:0010628 positive regulation of gene expression GO:0030154 cell differentiation GO:0030178 negative regulation of Wnt signaling pathway GO:0030318 melanocyte differentiation GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway GO:0032496 response to lipopolysaccharide GO:0032868 response to insulin GO:0034097 response to cytokine GO:0034341 response to interferon-gamma GO:0042438 melanin biosynthetic process GO:0042981 regulation of apoptotic process GO:0043473 pigmentation GO:0043524 negative regulation of neuron apoptotic process GO:0043627 response to estrogen GO:0045668 negative regulation of osteoblast differentiation GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0051591 response to cAMP GO:0060231 mesenchymal to epithelial transition GO:0060395 SMAD protein signal transduction GO:0060711 labyrinthine layer development GO:0060712 spongiotrophoblast layer development GO:0070555 response to interleukin-1 GO:0070669 response to interleukin-2 GO:0070670 response to interleukin-4 GO:0070741 response to interleukin-6 GO:0071104 response to interleukin-9 GO:0071105 response to interleukin-11 GO:0071107 response to parathyroid hormone GO:0071559 response to transforming growth factor beta
U65092 - Human melanocyte-specific gene 1 (msg1) mRNA, complete cds. BC004240 - Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1, mRNA (cDNA clone MGC:10361 IMAGE:3627230), complete cds. AB451286 - Homo sapiens CITED1 mRNA for Cbp/p300-interacting transactivator 1, complete cds, clone: FLJ08124AAAN. DQ892984 - Synthetic construct clone IMAGE:100005614; FLH191401.01X; RZPDo839C1077D Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 (CITED1) gene, encodes complete protein. DQ896232 - Synthetic construct Homo sapiens clone IMAGE:100010692; FLH191397.01L; RZPDo839C1067D Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 (CITED1) gene, encodes complete protein. AB451418 - Homo sapiens CITED1 mRNA for Cbp/p300-interacting transactivator 1, partial cds, clone: FLJ08124AAAF. AB464472 - Synthetic construct DNA, clone: pF1KB8885, Homo sapiens CITED1 gene for Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1, without stop codon, in Flexi system. JD263739 - Sequence 244763 from Patent EP1572962. JD462814 - Sequence 443838 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q99966 (Reactome details) participates in the following event(s):
R-HSA-9008271 CITED1 and EP300 bind ESR1:estrogen:TGFA gene promoter R-HSA-9023860 Histone acetyltransferases are recruited to the TFF1 gene R-HSA-8864307 TFAP2 homo- and heterodimers bind CITED and EP300/CREBBP R-HSA-9018519 Estrogen-dependent gene expression R-HSA-8866907 Activation of the TFAP2 (AP-2) family of transcription factors R-HSA-8939211 ESR-mediated signaling R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors R-HSA-9006931 Signaling by Nuclear Receptors R-HSA-212436 Generic Transcription Pathway R-HSA-162582 Signal Transduction R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
