http://identifiers.org/unip... | rdf:type | biopax3:ProteinReference | lld:biopax3 |
http://identifiers.org/unip... | biopax3:comment | FUNCTION: Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit selectively BMP (bone morphogenetic proteins) signaling by competing with the co-SMAD SMAD4 for receptor-activated SMAD1. SMAD6 is an inhibitory SMAD (I-SMAD) or antagonistic SMAD. Binds to regulatory elements in target promoter regions. SUBUNIT: Interacts with NEDD4L (By similarity). Interacts with WWP1 (By similarity). Interacts with RNF111 and AXIN1. Interacts with TGF-beta type I receptor superfamily members, SMAD1, HOXC8 and HOXC9. Interacts with STAMBP and PRKX. SUBCELLULAR LOCATION: Nucleus. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=A; IsoId=O43541-1; Sequence=Displayed; Name=B; Synonyms=Smad 6S; IsoId=O43541-2; Sequence=VSP_006179, VSP_006180; Name=D; IsoId=O43541-4; Sequence=VSP_035489, VSP_035490; TISSUE SPECIFICITY: Ubiquitous in various organs, with higher levels in lung. Isoform B is up-regulated in diseased heart tissue. PTM: Phosphorylated by BMP type 1 receptor kinase and by PRKX. PTM: Ubiquitinated by WWP1 (By similarity). DISEASE: Note=Genetic variations in SMAD6 may contribute to increased risk of congenital cardiovascular malformations (CVM). CVM is a major cause of mortality and morbidity in childhood. In most sporadic cases that cannot be attributed to particular malformation syndromes or teratogenic exposures, there remains a substantial excess familial risk, indicating a significant genetic contribution to disease susceptibility (PubMed:22275001). SIMILARITY: Belongs to the dwarfin/SMAD family. SIMILARITY: Contains 1 MH1 (MAD homology 1) domain. SIMILARITY: Contains 1 MH2 (MAD homology 2) domain. GENE SYNONYMS:SMAD6 MADH6. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License. | lld:biopax3 |
http://identifiers.org/unip... | biopax3:comment | SEQUENCE 496 AA; 53497 MW; A4B928AE2D34EBC2 CRC64; | lld:biopax3 |
http://identifiers.org/unip... | biopax3:xref | urn:biopax:UnificationXref:... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:xref | urn:biopax:UnificationXref:... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:xref | urn:biopax:UnificationXref:... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:xref | urn:biopax:UnificationXref:... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:xref | urn:biopax:RelationshipXref... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:xref | urn:biopax:UnificationXref:... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:xref | urn:biopax:RelationshipXref... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:xref | urn:biopax:UnificationXref:... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:xref | urn:biopax:RelationshipXref... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:xref | urn:biopax:RelationshipXref... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:xref | urn:biopax:UnificationXref:... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:displayName | SMAD6_HUMAN | lld:biopax3 |
http://identifiers.org/unip... | biopax3:name | Smad6 | lld:biopax3 |
http://identifiers.org/unip... | biopax3:name | Mothers against DPP homolog 6 | lld:biopax3 |
http://identifiers.org/unip... | biopax3:name | hSMAD6 | lld:biopax3 |
http://identifiers.org/unip... | biopax3:name | SMAD6 | lld:biopax3 |
http://identifiers.org/unip... | biopax3:name | MAD homolog 6 | lld:biopax3 |
http://identifiers.org/unip... | biopax3:name | SMAD 6 | lld:biopax3 |
http://identifiers.org/unip... | biopax3:name | SMAD family member 6 | lld:biopax3 |
http://identifiers.org/unip... | biopax3:entityFeature | urn:biopax:ModificationFeat... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:organism | http://identifiers.org/taxo... | lld:biopax3 |
http://identifiers.org/unip... | biopax3:sequence | MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPPRPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLLKRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLCGPESPPPPYSRLSPRDEYKPLDLSDSTLSYTETEATNSLITAPGEFSDASMSPDATKPSHWCSVAYWEHRTRVGRLYAVYDQAVSIFYDLPQGSGFCLGQLNLEQRSESVRRTRSKIGFGILLSKEPDGVWAYNRGEHPIFVNSPTLDAPGGRALVVRKVPPGYSIKVFDFERSGLQHAPEPDAADGPYDPNSVRISFAKGWGPCYSRQFITSCPCWLEILLNNPR | lld:biopax3 |
http://identifiers.org/unip... | biopax3:standardName | Mothers against decapentaplegic homolog 6 | lld:biopax3 |
http://www.phosphosite.org/... | biopax3:entityReference | http://identifiers.org/unip... | lld:biopax3 |
http://www.phosphosite.org/... | biopax3:entityReference | http://identifiers.org/unip... | lld:biopax3 |
http://pid.nci.nih.gov/biop... | biopax3:entityReference | http://identifiers.org/unip... | lld:biopax3 |
http://www.reactome.org/bio... | biopax3:entityReference | http://identifiers.org/unip... | lld:biopax3 |
HTTP://PATHWAYCOMMONS.ORG/P... | biopax3:entityReference | http://identifiers.org/unip... | lld:biopax3 |
http://www.reactome.org/bio... | biopax3:entityReference | http://identifiers.org/unip... | lld:biopax3 |
http://www.pantherdb.org/pa... | biopax3:memberEntityReferen... | http://identifiers.org/unip... | lld:biopax3 |
http://www.pantherdb.org/pa... | biopax3:memberEntityReferen... | http://identifiers.org/unip... | lld:biopax3 |
http://www.pantherdb.org/pa... | biopax3:memberEntityReferen... | http://identifiers.org/unip... | lld:biopax3 |
http://pid.nci.nih.gov/biop... | biopax3:memberEntityReferen... | http://identifiers.org/unip... | lld:biopax3 |