CREB1: cAMP Responsive Element Binding Protein 1
A master transcription factor regulating cellular response to hormonal and neuronal signals
Gene Information Card
| Symbol | CREB1 |
|---|---|
| Full Name | cAMP responsive element binding protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.3 |
| NCBI Gene ID | 1385 ncbi.nlm.nih.gov/gene/1385 |
| Ensembl ID | ENSG00000118260 |
| UniProt ID | P16220 |
| OMIM ID | 123810 |
| HGNC ID | 2345 |
| Aliases | CREB, CREB-1 |
Description
CREB1 encodes a leucine zipper transcription factor that binds to the cAMP response element (CRE) and regulates the expression of genes involved in cell proliferation, differentiation, survival, and memory. It is activated by phosphorylation via multiple signaling pathways including PKA, CaMK, and MAPK.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Angelman syndrome | CREB1 haploinsufficiency or altered expression may contribute to neurological features | OMIM #105830 |
| Huntington disease | Reduced CREB1 activity linked to transcriptional dysregulation in striatal neurons | PMID: 12577059 |
| Major depressive disorder | Polymorphisms in CREB1 associated with treatment response and mood regulation | ClinVar: rs2551645 |
| Colorectal cancer | CREB1 overexpression promotes tumor growth and metastasis | COSMIC: CREB1 mutations in 0.5% of colorectal cancers |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Heart | 28.1 | Medium |
| Liver | 15.3 | Medium |
| Kidney | 22.7 | Medium |
| Testis | 38.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.5 | Embryonic kidney cells |
| HeLa | 29.8 | Cervical cancer cells |
| SH-SY5Y | 41.0 | Neuroblastoma cells |
| HepG2 | 18.4 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | <0.1% | Reduced DNA binding affinity |
| c.487C>T (p.Arg163Trp) | Missense | <0.1% | Impaired phosphorylation by PKA |
| c.820_821insC | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce DNA binding or transactivation activity.
Gain of Function (GOF)
Not well documented; overexpression in tumors may act as gain-of-function.
Dominant Negative (DN)
Some CREB1 mutants can dimerize with wild-type and inhibit its function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• cAMP signaling pathway (KEGG: hsa04024)
• MAPK signaling pathway (KEGG: hsa04010)
• Neurotrophin signaling pathway (KEGG: hsa04722)
• Long-term potentiation (KEGG: hsa04720)
Protein Summary
CREB1 is a 341-amino acid nuclear protein containing a basic leucine zipper (bZIP) domain. It forms homodimers or heterodimers with other bZIP proteins (e.g., ATF1, CREM). Phosphorylation at Ser133 by PKA, CaMKIV, or RSK2 is essential for recruiting coactivators such as CBP/p300 and activating transcription.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CREB1 Knockout HEK293 Cell Line | EDJ-KQ781 | Human | 1385 | Details Get a Quote |
| CREB1 Knockout HCT 116 Cell Line | EDJ-KQ18280 | Human | 1385 | Details Get a Quote |
| CREB1 Knockout HeLa Cell Line | EDJ-KQ18349 | Human | 1385 | Details Get a Quote |
| CREB1 Knockout A-549 Cell Line | EDJ-KQ19488 | Human | 1385 | Details Get a Quote |
| CREB1 Knockout HAP1 Cell Line | EDC08306 | Human | 1385 | Details Get a Quote |
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