SMAD5
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SMAD family member 5 | MIM:603110 | Ensembl:ENSG00000113658 | HGNC:HGNC:6771 | PA30528 | 5q31.1 |
Gene Categories:
TRANSCRIPTION FACTOR COMPLEXGO terms in SMAD5
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001657 | ureteric bud development |
| BP | IEA | GO:0001880 | Mullerian duct regression |
| BP | IEA | GO:0002051 | osteoblast fate commitment |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0006468 | protein phosphorylation |
| BP | NAS | GO:0007165 | signal transduction |
| BP | NAS | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IEA | GO:0007281 | germ cell development |
| BP | ISS | GO:0009880 | embryonic pattern specification |
| BP | IEA | GO:0030218 | erythrocyte differentiation |
| BP | ISS | GO:0030509 | BMP signaling pathway |
| BP | TAS | GO:0030509 | BMP signaling pathway |
| BP | IEA | GO:0045669 | positive regulation of osteoblast differentiation |
| BP | NAS | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IEA | GO:0051216 | cartilage development |
| BP | IEA | GO:0060048 | cardiac muscle contraction |
| BP | IEA | GO:0060348 | bone development |
| BP | ISS | GO:0060395 | SMAD protein signal transduction |
| BP | NAS | GO:0060395 | SMAD protein signal transduction |
| BP | IEA | GO:0071407 | cellular response to organic cyclic compound |
| BP | ISS | GO:1901522 | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus |
| BP | TAS | GO:1901522 | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus |
| CC | NAS | GO:0005622 | intracellular |
| CC | ISS | GO:0005634 | nucleus |
| CC | NAS | GO:0005634 | nucleus |
| CC | TAS | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005667 | transcription factor complex |
| CC | ISS | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | NAS | GO:0071141 | SMAD protein complex |
| MF | IEA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0017151 | DEAD/H-box RNA helicase binding |
| MF | TAS | GO:0030618 | transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity |
| MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: SMAD5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SMAD5
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | alk1pathway | ALK1 signaling events |
| pid | alk2pathway | ALK2 signaling events |
| pid | bmppathway | BMP receptor signaling |
| humancyc | PWY66-11 | BMP Signalling Pathway |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
| wikipathways | WP2895 | Differentiation of white and brown adipocyte |
| wikipathways | WP3876 | BMP2-WNT4-FOXO1 Pathway in Human Primary Endometrial Stromal Cell Differentiation |
| wikipathways | WP3927 | BMP Signaling Pathway in Eyelid Development |
| wikipathways | WP3931 | ESC Pluripotency Pathways |
| wikipathways | WP3980 | Protein alkylation leading to liver fibrosis |
| wikipathways | WP560 | TGF-beta Receptor Signaling |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-201451 | Signaling by BMP |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| biocarta | alkpathway | alk in cardiac myocytes |
| biocarta | ctcfpathway | ctcf: first multivalent nuclear factor |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SMAD5
CLASSFICATION
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