HNRNPH1
Domain
Each quasi-RRM repeat bound poly(RG), while only the N-terminal QRRM bound poly(RC) and poly(RU). None of the repeats bound detectable amounts of poly(RA).
Function
This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG).
Involvement in disease
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
NEDCDS
An autosomal dominant disorder characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic dysmorphic facial features, and variable skeletal abnormalities. Additional features include feeding difficulties, inability to walk or walking with an abnormal gait, and cerebellar or other abnormalities on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed ubiquitously.
Cellular localization
- Nucleus
- Nucleoplasm
Alternative names
HNRPH, HNRPH1, HNRNPH1, Heterogeneous nuclear ribonucleoprotein H, hnRNP H