HNRNPA1

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. [provided by RefSeq, Feb 2016]

Heterogeneous Nuclear Ribonucleoprotein A1

Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and modulation of splice site selection (PubMed:17371836).

Plays a role in the splicing of pyruvate kinase PKM by binding repressively to sequences flanking PKM exon 9, inhibiting exon 9 inclusion and resulting in exon 10 inclusion and production of the PKM M2 isoform (PubMed:20010808).

Binds to the IRES and thereby inhibits the translation of the apoptosis protease activating factor APAF1 (PubMed:31498791).

May bind to specific miRNA hairpins (PubMed:28431233).

(Microbial infection) May play a role in HCV RNA replication.

(Microbial infection) Cleavage by Enterovirus 71 protease 3C results in increased translation of apoptosis protease activating factor APAF1, leading to apoptosis.

Cellular response to glucose starvation Source: CAFA
Cellular response to sodium arsenite Source: UniProtKB
Import into nucleus Source: HGNC-UCL
mRNA splicing, via spliceosome Source: UniProtKB
mRNA transport Source: UniProtKB-KW
Negative regulation of telomere maintenance via telomerase Source: BHF-UCL
Nuclear export Source: HGNC-UCL
Positive regulation of telomere maintenance via telomerase Source: BHF-UCL
Regulation of alternative mRNA splicing, via spliceosome Source: CAFA
RNA export from nucleus Source: HGNC-UCL

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).
Cytoplasm. (Microbial infection) In the course of viral infection, colocalizes with HCV NS5B at speckles in the cytoplasm in a HCV-replication dependent manner.
Nucleus. (Microbial infection) SARS coronavirus-2/SARS-CoV-2 ORF6 protein increases accumulation to the nucleus.

Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 (IBMPFD3):
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 (ALS20):
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.

Arg-194, Arg-206 and Arg-225 are dimethylated, probably to asymmetric dimethylarginine.
Sumoylated.