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.
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
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001503 ossification GO:0001657 ureteric bud development GO:0001880 Mullerian duct regression GO:0002051 osteoblast fate commitment GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006468 protein phosphorylation GO:0007165 signal transduction GO:0007179 transforming growth factor beta receptor signaling pathway GO:0007281 germ cell development GO:0009880 embryonic pattern specification GO:0030218 erythrocyte differentiation GO:0030509 BMP signaling pathway GO:0045669 positive regulation of osteoblast differentiation GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0051216 cartilage development GO:0060048 cardiac muscle contraction GO:0060348 bone development GO:0060395 SMAD protein signal transduction GO:0071407 cellular response to organic cyclic compound GO:0071773 cellular response to BMP stimulus GO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus
AK313397 - Homo sapiens cDNA, FLJ93932, Homo sapiens MAD, mothers against decapentaplegic homolog 5 (Drosophila) (MADH5), mRNA. AF009745 - Homo sapiens MAD homolog Smad5 mRNA, 5'UTR. AF071106 - Homo sapiens SMAD5 splice variant A (SMAD5) mRNA, 5'UTR and partial cds. AF071107 - Homo sapiens SMAD5 splice variant B (SMAD5) mRNA, 5'UTR and partial cds. AF071108 - Homo sapiens SMAD5 splice variant C (SMAD5) mRNA, 5'UTR and partial cds. AK311231 - Homo sapiens cDNA, FLJ18273. CR749366 - Homo sapiens mRNA; cDNA DKFZp781C1895 (from clone DKFZp781C1895). BX648328 - Homo sapiens mRNA; cDNA DKFZp686H02163 (from clone DKFZp686H02163). CR749473 - Homo sapiens mRNA; cDNA DKFZp781O1323 (from clone DKFZp781O1323). AF071109 - Homo sapiens SMAD5 splice variant D (SMAD5) mRNA, 5'UTR and partial cds. AF071110 - Homo sapiens SMAD5 splice variant E (SMAD5) mRNA, 5'UTR and partial cds. BC009682 - Homo sapiens SMAD family member 5, mRNA (cDNA clone MGC:8960 IMAGE:3906006), complete cds. JD087422 - Sequence 68446 from Patent EP1572962. U73825 - Homo sapiens Smad5 mRNA, complete cds. AF010601 - Homo sapiens SMAD5 (Smad5) mRNA, complete cds. U59913 - Human chromosome 5 Mad homolog Smad5 mRNA, complete cds. AF009678 - Homo sapiens Smad5 (Smad5) mRNA, complete cds. CU679439 - Synthetic construct Homo sapiens gateway clone IMAGE:100017326 5' read SMAD5 mRNA. AB464214 - Synthetic construct DNA, clone: pF1KB7706, Homo sapiens SMAD5 gene for SMAD family member 5, without stop codon, in Flexi system. HQ448272 - Synthetic construct Homo sapiens clone IMAGE:100071675; CCSB000163_03 SMAD family member 5 (SMAD5) gene, encodes complete protein. KJ891569 - Synthetic construct Homo sapiens clone ccsbBroadEn_00963 SMAD5 gene, encodes complete protein. CR457424 - Homo sapiens full open reading frame cDNA clone RZPDo834A1214D for gene MADH5, MAD, mothers against decapentaplegic homolog 5 (Drosophila); complete cds, incl. stopcodon. JD023842 - Sequence 4866 from Patent EP1572962. JD025999 - Sequence 7023 from Patent EP1572962. JD031699 - Sequence 12723 from Patent EP1572962. JD027719 - Sequence 8743 from Patent EP1572962. JD022963 - Sequence 3987 from Patent EP1572962. JD028527 - Sequence 9551 from Patent EP1572962. JD317081 - Sequence 298105 from Patent EP1572962. JD378923 - Sequence 359947 from Patent EP1572962. JD354212 - Sequence 335236 from Patent EP1572962. JD072801 - Sequence 53825 from Patent EP1572962. AK055211 - Homo sapiens cDNA FLJ30649 fis, clone CTONG2006562. AK001036 - Homo sapiens cDNA FLJ10174 fis, clone HEMBA1003959.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04350 - TGF-beta signaling pathway
BioCarta from NCI Cancer Genome Anatomy Project h_alkPathway - ALK in cardiac myocytes h_ctcfPathway - CTCF: First Multivalent Nuclear Factor
Reactome (by CSHL, EBI, and GO)
Protein Q99717 (Reactome details) participates in the following event(s):
R-HSA-201648 An anchoring protein, Endofin, recruits R-Smad1/5/8 R-HSA-201422 Phospho-R-Smad1/5/8 forms a complex with Co-Smad R-HSA-202626 I-Smad competes with Co-Smad for R-Smad1/5/8 R-HSA-201453 Phospho-R-Smad1/5/8 dissociates from the receptor complex R-HSA-201476 Activated type I receptor phosphorylates R-Smad1/5/8 directly R-HSA-201423 SKI complexes with the Smad complex, suppressing BMP2 signalling R-HSA-201472 The phospho-R-Smad1/5/8:Co-Smad transfers to the nucleus R-HSA-201451 Signaling by BMP R-HSA-9006936 Signaling by TGF-beta family members R-HSA-162582 Signal Transduction
US Server
