| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Down-regulates NF-kappa-B signaling by competing with RELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA) biogenesis. SUBUNIT: Binds SMAD4 and CREBBP/EP300. Binds the SMAD1/OAZ1/PSMB4 complex. Interacts with DROSHA. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Ubiquitous, with highest expression in heart and skeletal muscle. PTM: Degraded by the proteasome upon binding to the SMAD1/OAZ1/PSMB4 complex. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in SNIP1 are the cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) [MIM:614501]. A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period. SIMILARITY: Contains 1 FHA domain. GENE SYNONYMS:SNIP1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 396 AA; 45778 MW; B183F83EC3184676 CRC64;
|
| biopax3:xref | |
| biopax3:displayName |
SNIP1_HUMAN
|
| biopax3:name |
FHA domain-containing protein SNIP1,
SNIP1
|
| biopax3:entityFeature |
urn:biopax:ModificationFeature:SNIP1_HUMAN_1,
urn:biopax:ModificationFeature:SNIP1_HUMAN_10,
urn:biopax:ModificationFeature:SNIP1_HUMAN_2,
urn:biopax:ModificationFeature:SNIP1_HUMAN_3,
urn:biopax:ModificationFeature:SNIP1_HUMAN_4,
urn:biopax:ModificationFeature:SNIP1_HUMAN_5,
urn:biopax:ModificationFeature:SNIP1_HUMAN_6,
urn:biopax:ModificationFeature:SNIP1_HUMAN_7,
urn:biopax:ModificationFeature:SNIP1_HUMAN_8,
urn:biopax:ModificationFeature:SNIP1_HUMAN_9
|
| biopax3:organism | |
| biopax3:sequence |
MKAVKSERERGSRRRHRDGDVVLPAGVVVKQERLSPEVAPPAHRRPDHSGGSPSPPTSEPARSGHRGNRARGVSRSPPKKKNKASGRRSKSPRSKRNRSPHHSTVKVKQEREDHPRRGREDRQHREPSEQEHRRARNSDRDRHRGHSHQRRTSNERPGSGQGQGRDRDTQNLQAQEEEREFYNARRREHRQRNDVGGGGSESQELVPRPGGNNKEKEVPAKEKPSFELSGALLEDTNTFRGVVIKYSEPPEARIPKKRWRLYPFKNDEVLPVMYIHRQSAYLLGRHRRIADIPIDHPSCSKQHAVFQYRLVEYTRADGTVGRRVKPYIIDLGSGNGTFLNNKRIEPQRYYELKEKDVLKFGFSSREYVLLHESSDTSEIDRKDDEDEEEEEEVSDS
|
| biopax3:standardName |
Smad nuclear-interacting protein 1
|