Target intelligence / Profile preview

Heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU)

Target
HNRNPU
Molecular classification
RNA-binding protein, Nucleic acid-binding protein, Chromatin organizer, Scaffold attachment factor, Other
01

Overview

Heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU) is a multifunctional nuclear protein encoded by the HNRNPU gene on human chromosome 1q44[1][3][7]. It binds both RNA and DNA, notably associating with scaffold/matrix-attachment regions of chromatin and forming complexes with heterogeneous nuclear RNA (hnRNA). In cell biology, HNRNPU is crucial for regulating alternative splicing, chromatin structure, transcription, DNA replication, genome stability, mitotic fidelity, and X chromosome inactivation[1][5][7]. Its central position in RNA and chromatin metabolism means mutations or deletions cause severe neurodevelopmental diseases, including epileptic encephalopathy and intellectual disability, and potentially contribute to cardiac and other diseases. There are no drugs directly targeting HNRNPU as its disruption results in loss of essential cellular functions and rapid cell death[4][5][6][7].

Other names
Scaffold attachment factor A (SAF-A)hnRNP UHNRNPUp120 nuclear proteinU21.1C1orf199GRIP120pp120HNRPUHNRNPU antisense RNA 1Nuclear p120 ribonucleoprotein
02

Biological functions

RNA splicing and processingChromatin organization and genome stabilityAlternative pre-mRNA splicingRegulation of transcriptionDNA replicationMitotic cell cycle fidelitymRNA export and stabilityEpigenetic regulation (X chromosome inactivation)Protein turnover modulation
03

Disease associations

Neurodevelopmental disordersEpileptic encephalopathyIntellectual disabilityCardiac disease (dilated cardiomyopathy)Other
04

Safety considerations

Essential for development; loss-of-function mutations cause lethality in animal modelsPotential for widespread splicing defects and cell death after inhibitionNot likely druggable with acceptable safety margins due to central role in transcriptome maintenance and chromatin architecture
05

Biomarkers

Mutations or deletions (notably in 1q44 region) for neurodevelopmental disorders, epileptic encephalopathy, and developmental delay

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