Human Gene SMAD5 (uc003lbl.1) Description and Page Index
Description: Homo sapiens SMAD family member 5 (SMAD5), transcript variant 3, mRNA. RefSeq Summary (NM_001001420): The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. Transcript (Including UTRs) Position: hg19 chr5:135,468,536-135,518,422 Size: 49,887 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr5:135,489,450-135,513,168 Size: 23,719 Coding Exon Count: 7
ID:SMAD5_HUMAN DESCRIPTION: RecName: Full=Mothers against decapentaplegic homolog 5; Short=MAD homolog 5; Short=Mothers against DPP homolog 5; AltName: Full=JV5-1; AltName: Full=SMAD family member 5; Short=SMAD 5; Short=Smad5; Short=hSmad5; FUNCTION: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor-regulated SMAD (R-SMAD). SUBUNIT: May form trimers with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit and SMURF1. Interacts with SUV39H1 and SUV39H2. Interacts (via MH2 domain) with LEMD3. Interacts with WWP1. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with SMAD4. TISSUE SPECIFICITY: Ubiquitous. PTM: Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase. PTM: Ubiquitin-mediated proteolysis by SMAD-specific E3 ubiquitin ligase SMURF1. SIMILARITY: Belongs to the dwarfin/SMAD family. SIMILARITY: Contains 1 MH1 (MAD homology 1) domain. SIMILARITY: Contains 1 MH2 (MAD homology 2) domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SMAD5 CDC HuGE Published Literature: SMAD5
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 Q99717
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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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0017151 DEAD/H-box RNA helicase binding GO:0030618 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0031625 ubiquitin protein ligase binding GO:0046872 metal ion binding