CITED1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CITED1 |
| Official Name | Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 [Source:HGNC Symbol;Acc:HGNC:1986] |
| Ensembl ID | ENSG00000125931 |
| Bio databases IDs | |
| Aliases | Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 |
| Synonyms | Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1, MSG1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CITED1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- transcription regulator
- transcription co-activator
- smad binding domain
- protein homodimerization
- chromatin binding
- protein binding
- LBD domain binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pervasive developmental disorder
- androgenic alopecia
- restless legs syndrome
- intrauterine growth retardation
- thyroid carcinoma
- epithelial thyroid cancer
- morbid obesity
role in cell
- proliferation
- apoptosis
- growth
- invasion
- differentiation
- aggregation
- mass
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CITED1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to cytokine stimulus
- melanin biosynthetic process
- response to estrogen stimulus
- transforming growth factor beta receptor signaling pathway
- response to cAMP
- vasculogenesis
- positive regulation of transcription from RNA polymerase II promoter
- placenta development
- negative regulation of neuron apoptotic process
- negative regulation of osteoblast differentiation
- nucleocytoplasmic transport
- response to insulin stimulus
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- pigmentation
- apoptotic process
- response to interleukin-6
- response to interleukin-2
- response to transforming growth factor beta stimulus
- mesenchymal to epithelial transition
- response to interferon-gamma
- SMAD protein signal transduction
- regulation of apoptotic process
- brain development
- regulation of transcription from RNA polymerase II promoter
- labyrinthine layer development
- melanocyte differentiation
- metanephros development
- branching involved in ureteric bud morphogenesis
- response to interleukin-4
- positive regulation of gene expression
- response to interleukin-1
- response to interleukin-11
- negative regulation of Wnt receptor signaling pathway
- response to lipopolysaccharide
- response to interleukin-9
- response to parathyroid hormone stimulus
- positive regulation of transforming growth factor beta receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- transcription coactivator activity
- LBD domain binding
- co-SMAD binding
- chromatin binding