UniProt functional annotation for P31483



	UniProt functional annotation for P31483

UniProt code: P31483.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich elements (AREs) located in mRNA 3' untranslated regions (3' UTRs). Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis.

Subcellular location: Cytoplasm, Stress granule {ECO:0000269|PubMed:15371533}. Nucleus {ECO:0000269|PubMed:15371533, ECO:0000305|PubMed:18201561}. Note=Accumulates in cytoplasmic stress granules (SG) following cellular damage. {ECO:0000269|PubMed:15371533}.

Disease: Welander distal myopathy (WDM) [MIM:604454]: An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement. {ECO:0000269|PubMed:23348830, ECO:0000269|PubMed:23401021}. Note=The disease is caused by variants affecting the gene represented in this entry.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich elements (AREs) located in mRNA 3' untranslated regions (3' UTRs). Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis.


Subcellular location:		Cytoplasm, Stress granule {ECO:0000269\|PubMed:15371533}. Nucleus {ECO:0000269\|PubMed:15371533, ECO:0000305\|PubMed:18201561}. Note=Accumulates in cytoplasmic stress granules (SG) following cellular damage. {ECO:0000269\|PubMed:15371533}.
Disease:		Welander distal myopathy (WDM) [MIM:604454]: An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement. {ECO:0000269\|PubMed:23348830, ECO:0000269\|PubMed:23401021}. Note=The disease is caused by variants affecting the gene represented in this entry.