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MGP001481

UniProt Annotations

Entry Information

Gene Name	heterogeneous nuclear ribonucleoprotein A1
Protein Entry	ROA1_HUMAN
UniProt ID	P09651
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=A1-B; IsoId=P09651-1; Sequence=Displayed; Name=A1-A; IsoId=P09651-2; Sequence=VSP_005824; Note=Is twenty times more abundant than isoform A1-B.; Name=2; IsoId=P09651-3; Sequence=VSP_034076; Note=No experimental confirmation available.;
Disease	Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269\|PubMed:23455423}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 (IBMPFD3) [MIM:615424]: An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. {ECO:0000269\|PubMed:23455423}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection. May play a role in HCV RNA replication. {ECO:0000269\|PubMed:17229681}.
Interaction	P27958:- (xeno); NbExp=4; IntAct=EBI-352662, EBI-6904388; Q07666:KHDRBS1; NbExp=2; IntAct=EBI-352662, EBI-1364; Q14141:SEPT6; NbExp=3; IntAct=EBI-352662, EBI-745901;
Ptm	Arg-194, Arg-206 and Arg-225 are dimethylated, probably to asymmetric dimethylarginine.
Ptm	Sumoylated. {ECO:0000269\|PubMed:15161980}.
Similarity	Contains 2 RRM (RNA recognition motif) domains. {ECO:0000255\|PROSITE-ProRule:PRU00176}.
Subcellular Location	Nucleus. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Shuttles continuously between the nucleus and the cytoplasm along with mRNA. Component of ribonucleosomes. In the course of viral infection, colocalizes with HCV NS5B at speckles in the cytoplasm in a HCV-replication dependent manner.
Subunit	Identified in the spliceosome C complex. Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Interacts with SEPT6. Interacts with C9orf72. Interacts with HCV NS5B and with the 5'-UTR and 3'-UTR of HCV RNA. {ECO:0000269\|PubMed:11991638, ECO:0000269\|PubMed:17229681, ECO:0000269\|PubMed:17289661, ECO:0000269\|PubMed:24549040}.