| Gene Symbol |
SMAD4
|
| Entrez Gene |
4089
|
| Alt Symbol |
DPC4, JIP, MADH4, MYHRS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
SMAD family member 4
|
| Other Description |
MAD homolog 4|SMAD, mothers against DPP homolog 4|deleted in pancreatic carcinoma locus 4|deletion target in pancreatic carcinoma 4|mothers against decapentaplegic homolog 4|mothers against decapentaplegic, Drosophila, homolog of, 4
|
| Swissprots |
A8K405 Q13485
|
| Accessions |
AAC03051 AHA34184 AHA34185 AHA34186 BAB40977 EAW62985 EAW62986 EAW62987 Q13485 AK290770 BAF83459 AU120224 BC002379 AAH02379 BM701399 BX647129 DQ891840 ABM82766 DQ895028 ABM85954 U44378 AAA91041 NM_005359 NP_005350
|
| Function |
In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (By similarity). Common SMAD (co-SMAD) is the coactivator and mediator of signal transduction by TGF-beta (transforming growth factor). Component of the heterotrimeric SMAD2/SMAD3-SMAD4 complex that forms in the nucleus and is required for the TGF-mediated signaling. Promotes binding of the SMAD2/SMAD4/FAST-1 complex to DNA and provides an activation function required for SMAD1 or SMAD2 to stimulate transcription. Component of the multimeric SMAD3/SMAD
|
| Subcellular Location |
Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with R- SMAD. PDPK1 prevents its nuclear translocation in response to TGF- beta.
|
| Top Pathways |
Wnt signaling pathway, Pancreatic cancer, HTLV-I infection, Colorectal cancer, Chronic myeloid leukemia
|
