HNRNPR Gene Summary [Human]
This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]
Details
| Type | Processed Transcript |
| Official Symbol | HNRNPR |
| Official Name | heterogeneous nuclear ribonucleoprotein R [Source:HGNC Symbol;Acc:HGNC:5047] |
| Ensembl ID | ENSG00000125944 |
| Bio databases IDs | |
| Aliases | heterogeneous nuclear ribonucleoprotein R |
| Synonyms | 2610003J05Rik, 2610528B01Rik, heterogeneous nuclear ribonucleoprotein R, HNRPR, NEDDFSB |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HNRNPR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ELAV/HuD family splicing factor
- RNA recognition motif (RRM) superfamily
- mRNA 3' UTR binding
- RNA recognition motif
- Heterogeneous nuclear ribonucleoprotein Q acidic domain
- protein binding
- heterogeneous nuclear ribonucleoprotein R, Q family
- NURR (N-terminal unit for RNA recognition) domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
- atopic dermatitis
- aortic valve calcification
- gastric adenocarcinoma
- gastric epithelial cancer
- syndromic mental retardation
role in cell
- production in
- growth
- downregulation in
- processing in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- polyribosome fractions
- endoplasmic reticulum mitochondria contact site
- catalytic step 2 spliceosome
- cell surface
- nucleoplasm
- growth cone
- dendrites
- axon terminals
- paraspeckle-like structures
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HNRNPR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mRNA processing
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- nucleus
- catalytic step 2 spliceosome
- spliceosomal complex
- endoplasmic reticulum
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA binding
- protein binding
- mRNA binding