HNRNPU gene

heterogeneous nuclear ribonucleoprotein U

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017]

From UniProt:

Component of the CRD-mediated complex that promotes MYC mRNA stabilization. Binds to pre-mRNA. Has high affinity for scaffold-attached region (SAR) DNA. Binds to double- and single-stranded DNA and RNA. Plays a role in the circadian regulation of the core clock component ARNTL/BMAL1 transcription.

From NCBI Gene:

  • Epileptic encephalopathy, early infantile, 54

From UniProt:

Epileptic encephalopathy, early infantile, 54 (EIEE54): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. [MIM:617391]

Cytogenetic Location: 1q44, which is the long (q) arm of chromosome 1 at position 44

Molecular Location: base pairs 244,842,123 to 244,864,720 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q44, which is the long (q) arm of chromosome 1 at position 44
  • EIEE54
  • hnRNP U
  • HNRNPU-AS1
  • HNRPU
  • pp120
  • SAF-A
  • SAFA
  • U21.1