hnRNP A1 ist ein Gen, das durch das Symbol HNRNPA1 kodiert wird. Im Allgemeinen auch bezeichnet als: Heterogeneous nuclear ribonucleoprotein A1; Helix-destabilizing protein; Single-strand RNA-binding protein; hnRNP core protein A1; HNRNPA1; HNRPA1. hnRNP A1 hat eine Masse von 38.75kDa, eine Aminosäurelänge von 372, und ist an folgenden Krankheiten beteiligt: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3; Amyotrophic lateral sclerosis 20.
Wir bieten 7 antikörper gegen hnRNP A1, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA, ICC/IF and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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 (PubMed:17371836). May bind to specific miRNA hairpins (PubMed:28431233). Binds to the IRES and thereby inhibits the translation of the apoptosis protease activating factor APAF1 (PubMed:31498791).
Entrez Zusammenfassung
This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome.
Rolle bei Krankheiten
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3: 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.
Amyotrophic lateral sclerosis 20: 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.
Posttranslationale Modifikation
Arg-194, Arg-206 and Arg-225 are dimethylated, probably to asymmetric dimethylarginine.
Zellort
Nucleus. Cytoplasm.
Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Shuttles continuously between the nucleus and the cytoplasm along with mRNA. Component of ribonucleosomes (PubMed:17289661).
