CITED1: A Transcriptional Coactivator in Development and Cancer
Comprehensive genomic and functional overview of CITED1 (Cbp/p300-Interacting Transactivator with Glu/Asp-Rich Carboxy-Terminal Domain 1)
Gene Information Card
| Symbol | CITED1 |
|---|---|
| Full Name | Cbp/p300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 4435 ncbi.nlm.nih.gov/gene/4435 |
| Ensembl ID | ENSG00000124588 |
| UniProt ID | Q9Y6X8 |
| OMIM ID | 300957 |
| HGNC ID | 1987 |
| Aliases | MSG1, MRG1, p35srj |
Description
CITED1 (Cbp/p300-Interacting Transactivator with Glu/Asp-Rich Carboxy-Terminal Domain 1) is a protein-coding gene located on chromosome Xq13.1. It encodes a transcriptional coactivator that interacts with CBP/p300 and enhances transcription mediated by various transcription factors, including SMADs and TFAP2. CITED1 plays critical roles in embryonic development, cell proliferation, and differentiation. Aberrant expression and mutations of CITED1 are implicated in several cancers, including melanoma, breast cancer, and nephroblastoma (Wilms tumor).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Overexpression of CITED1 promotes melanoma cell proliferation and migration via activation of MITF and downstream targets. | PMID: 14647414; COSMIC |
| Breast Cancer | CITED1 is overexpressed in a subset of breast cancers and correlates with poor prognosis; may enhance estrogen receptor signaling. | PMID: 15626734; NCBI Gene |
| Nephroblastoma (Wilms Tumor) | CITED1 is highly expressed in Wilms tumor and may contribute to aberrant nephrogenesis. | PMID: 10891498; OMIM 300957 |
| Hepatocellular Carcinoma | Upregulation of CITED1 in HCC associated with increased cell growth and invasion. | PMID: 23541959 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal Gland | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Skin | 6.7 | Low |
| Breast | 5.1 | Low |
| Liver | 4.2 | Low |
| Lung | 3.8 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A375 (Melanoma) | 45.2 | High expression; consistent with melanoma role |
| MCF7 (Breast Cancer) | 22.1 | Moderate expression; estrogen receptor positive |
| HEK293 (Embryonic Kidney) | 15.8 | Moderate expression |
| HepG2 (Hepatocellular Carcinoma) | 12.3 | Moderate expression |
| SK-MEL-28 (Melanoma) | 38.7 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.214C>T (p.Arg72Trp) | Missense | 0.01% (gnomAD) | Unknown functional effect; not in COSMIC |
| c.403G>A (p.Glu135Lys) | Missense | 0.005% (gnomAD) | Unknown functional effect |
| COSM1234567 (example) | Missense | Reported in melanoma | Potential gain of function (inferred) |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CITED1 are rare and not well characterized; start-loss variant (p.Met1?) is predicted to abolish protein expression.
Gain of Function (GOF)
Gain-of-function mutations have not been formally described; overexpression in melanoma and breast cancer suggests oncogenic potential via increased coactivator activity.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CITED1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (via SMAD interaction)
• Melanogenesis (via MITF activation)
• Estrogen signaling pathway (via ER coactivation)
• p53 signaling pathway (indirect)
Protein Summary
CITED1 is a 216-amino-acid nuclear protein containing a conserved C-terminal domain that mediates binding to CBP/p300. It lacks intrinsic DNA-binding activity but functions as a transcriptional coactivator by bridging transcription factors to the CBP/p300 complex. CITED1 is highly expressed in embryonic kidney, melanocytes, and certain cancers. Its expression is regulated by developmental signals and is frequently upregulated in melanoma, breast cancer, and Wilms tumor. The protein promotes cell proliferation and survival, and its overexpression correlates with aggressive tumor phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CITED1 Knockout HEK293 Cell Line | EDJ-KQ50448 | Human | 4435 | Details Get a Quote |
| CITED1 Knockout HeLa Cell Line | EDJ-KQ53903 | Human | 4435 | Details Get a Quote |
| CITED1 Knockout A-549 Cell Line | EDJ-KQ62394 | Human | 4435 | Details Get a Quote |
| CITED1 Knockout HCT 116 Cell Line | EDJ-KQ70863 | Human | 4435 | Details Get a Quote |
