| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. SUBUNIT: Interacts with HGS, NANOG and ZCCHC12 (By similarity). May form trimers with another SMAD1 and the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit, CREB-binding protein (CBP), p300, SMURF1, SMURF2 and HOXC8. Associates with ZNF423 or ZNF521 in response to BMP2 leading to activate transcription of BMP target genes. Interacts with SKOR1. Interacts (via MH2 domain) with LEMD3. Binding to LEMD3 results in at least a partial reduction of receptor-mediated phosphorylation. Forms a ternary complex with PSMB4 and OAZ1 before PSMB4 is incorporated into the 20S proteasome. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with SMAD4. Co-localizes with LEMD3 at the nucleus inner membrane. TISSUE SPECIFICITY: Ubiquitous. Highest expression seen in the heart and skeletal muscle. PTM: Phosphorylated on serine by BMP type 1 receptor kinase. PTM: Ubiquitin-mediated proteolysis by SMAD-specific E3 ubiquitin ligase SMURF1. DISEASE: Defects in SMAD1 may be a cause of primary pulmonary hypertension (PPH1) [MIM:178600]. A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial PPH1 is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. 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:SMAD1 BSP1 MADH1 MADR1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 465 AA; 52260 MW; 2DD34B7F434DBC7E CRC64;
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| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:6767,
urn:biopax:RelationshipXref:NCBI GENE_4086,
urn:biopax:RelationshipXref:REFSEQ_NP_001003688,
urn:biopax:RelationshipXref:REFSEQ_NP_005891,
urn:biopax:UnificationXref:UNIPROT_A8KAJ0,
urn:biopax:UnificationXref:UNIPROT_D3DNZ9,
urn:biopax:UnificationXref:UNIPROT_Q15797,
urn:biopax:UnificationXref:UNIPROT_Q16636
|
| biopax3:displayName |
SMAD1_HUMAN
|
| biopax3:name |
BSP-1,
JV4-1,
MAD homolog 1,
Mad-related protein 1,
Mothers against DPP homolog 1,
SMAD 1,
SMAD family member 1,
SMAD1,
Smad1,
Transforming growth factor-beta-signaling protein 1,
hSMAD1
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MNVTSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDALVKKLKKKKGAMEELEKALSCPGQPSNCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLECCEFPFGSKQKEVCINPYHYKRVESPVLPPVLVPRHSEYNPQHSLLAQFRNLGQNEPHMPLNATFPDSFQQPNSHPFPHSPNSSYPNSPGSSSSTYPHSPTSSDPGSPFQMPADTPPPAYLPPEDPMTQDGSQPMDTNMMAPPLPSEINRGDVQAVAYEEPKHWCSIVYYELNNRVGEAFHASSTSVLVDGFTDPSNNKNRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECLSDSSIFVQSRNCNYHHGFHPTTVCKIPSGCSLKIFNNQEFAQLLAQSVNHGFETVYELTKMCTIRMSFVKGWGAEYHRQDVTSTPCWIEIHLHGPLQWLDKVLTQMGSPHNPISSVS
|
| biopax3:standardName |
Mothers against decapentaplegic homolog 1
|