HNRNPA1

Description

The HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1) is a protein-coding gene located on chromosome 12.

Heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) is a protein encoded by the HNRNPA1 gene in humans. Mutations in hnRNP A1 are linked to amyotrophic lateral sclerosis and the syndrome multisystem proteinopathy. hnRNP A1 belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). These proteins bind to RNA and are involved in pre-mRNA processing, mRNA metabolism, and transport. Some hnRNPs shuttle between the nucleus and cytoplasm. hnRNP A1 possesses two repeats of quasi-RRM domains in its N-terminal region, crucial for RNA binding and specificity. It also contains an RGG box, a glycine-rich arginine-glycine-glycine region, which facilitates protein and RNA interactions. hnRNP A1 affects numerous critical genes involved in regulating metabolic pathways at transcriptional, post-transcriptional, translational, and post-translational levels.

HNRNPA1 plays a crucial role in the packaging of pre-mRNA into hnRNP particles, facilitating the transport of poly(A) mRNA from the nucleus to the cytoplasm and influencing the selection of splice sites. It also participates in the splicing of pyruvate kinase PKM by binding to sequences flanking PKM exon 9, which inhibits exon 9 inclusion and leads to exon 10 inclusion, resulting in the production of the PKM M2 isoform. Furthermore, HNRNPA1 binds to the IRES, inhibiting the translation of the apoptosis protease activating factor APAF1, and may interact with specific miRNA hairpins.

HNRNPA1 is also known as ALS19, ALS20, HNRPA1, HNRPA1L3, IBMPFD3, MPD3, UP 1, hnRNP A1, hnRNP-A1.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing