Aliases for HNRNPH1 Gene
External Ids for HNRNPH1 Gene
Previous HGNC Symbols for HNRNPH1 Gene
Previous GeneCards Identifiers for HNRNPH1 Gene
This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012]
GeneCards Summary for HNRNPH1 Gene
HNRNPH1 (Heterogeneous Nuclear Ribonucleoprotein H1 (H)) is a Protein Coding gene. Diseases associated with HNRNPH1 include hereditary lymphedema and congenital lymphedema. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is ESRP2.
UniProtKB/Swiss-Prot for HNRNPH1 Gene
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).