| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Matrin-3
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| http://www.biopax.org/relea... |
MATR3_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
FUNCTION: May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs. SUBUNIT: Part of complex consisting of SFPQ, NONO and MATR3. Interacts with EIF2C1 and EIF2C2. SUBCELLULAR LOCATION: Nucleus matrix. DISEASE: Defects in MATR3 are the cause of myopathy distal type 2 (MPD2) [MIM:606070]; also called vocal cord and pharyngeal dysfunction with distal myopathy (VCPDM). MPD2 is a muscular disorder characterized by distal weakness, with onset in hands and feet, associated with vocal cord and pharyngeal weakness causing a nasal voice and swallowing disorders. SIMILARITY: Contains 1 matrin-type zinc finger. SIMILARITY: Contains 2 RRM (RNA recognition motif) domains. SEQUENCE CAUTION: Sequence=AAF17217.1; Type=Frameshift; Positions=Several; Sequence=BAA34443.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; GENE SYNONYMS: KIAA0723. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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| skos:exactMatch |