HNRNPU Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | HNRNPU |
| Official Name | heterogeneous nuclear ribonucleoprotein U [Source:HGNC Symbol;Acc:HGNC:5048] |
| Ensembl ID | ENSG00000153187 |
| Bio databases IDs | |
| Aliases | heterogeneous nuclear ribonucleoprotein U, scaffold attachment factor A |
| Synonyms | AI503316, DEE54, EIEE54, GRIP120, heterogeneous nuclear ribonucleoprotein U, HNRNPU-AS1, HNRPU, HRNPU, LOC284702, pp120, SAF-A, scaffold attachment factor A, SN1, SP120, U21.1 |
| 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 HNRNPU often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SPRY domain
- RNA recognition motif
- SAP domain
- transcription co-repressor
- ATP binding
- transcription factor binding
- chromatin binding
- glutamine-rich domain
- identical protein binding
- SAF-box
- actin binding
- ribonucleoprotein binding
- double-stranded RNA binding
- RGG domain
- snRNA binding
- SAP motif
- nucleic acid binding
- enzyme binding
- central domain
- poly(A) binding protein
- protein binding
- poly(rC) binding protein
- sequence-specific DNA binding
- single-stranded RNA binding
- DNA binding
- AAA domain
- RNA binding
- binding protein
- mRNA 3' UTR binding
- single-stranded DNA binding
- double-stranded DNA binding
- RNA-binding domain
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- cancer
- metastasis
- advanced cancer
- aortic valve calcification
- non-small cell lung cancer
- early infantile epileptic encephalopathy type 54
role in cell
- expression in
- migration
- cell death
- proliferation
- apoptosis
- growth
- production in
- phosphorylation in
- differentiation
- transactivation 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
- ribonucleoprotein fractions
- nuclear fraction
- polyribosome fractions
- detergent resistant lipid raft fraction
- catalytic step 2 spliceosome
- cytoplasmic ribonucleoprotein granule
- Cytoplasm
- cell surface
- ribosome
- Plasma Membrane
- centrosome
- midbody
- cytosol
- chromosome
- inner nuclear membrane
- nucleoplasm
- interchromatin granule clusters
- spindle fibers
- nuclear speckles
- nuclear matrix
- central spindle
- mitotic spindle
- kinetochores
- paraspeckle-like structures
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HNRNPU gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of brown fat cell differentiation
- negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay
- chromatin organization
- positive regulation of transcription from RNA polymerase II promoter
- nuclear mRNA splicing, via spliceosome
- cell division
- negative regulation of transcription from RNA polymerase II promoter
- circadian regulation of gene expression
- regulation of alternative nuclear mRNA splicing, via spliceosome
- alternative nuclear mRNA splicing, via spliceosome
- negative regulation of stem cell differentiation
- osteoblast differentiation
- negative regulation of kinase activity
- positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity
- negative regulation of transcription elongation from RNA polymerase II promoter
- dosage compensation by inactivation of X chromosome
- RNA processing
- regulation of mitotic cell cycle
- positive regulation of cytoplasmic translation
- cellular response to glucocorticoid stimulus
- positive regulation of stem cell proliferation
- mRNA stabilization
- cardiac muscle cell development
- negative regulation of telomere maintenance via telomerase
- CRD-mediated mRNA stabilization
- maintenance of protein location in nucleus
Cellular Component
Where in the cell the gene product is active
- CRD-mediated mRNA stability complex
- nuclear speck
- spindle pole
- nuclear chromosome
- kinetochore
- telomerase holoenzyme complex
- cell surface
- nucleoplasm
- nucleus
- centrosome
- mitotic spindle
- catalytic step 2 spliceosome
- membrane
- dendrite cytoplasm
- cytosol
- nuclear matrix
- macromolecular complex
- midbody
Molecular Function
What the gene product does at the molecular level
- poly(A) RNA binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- double-stranded DNA binding
- RNA polymerase II core binding
- single-stranded DNA binding
- mRNA 3'-UTR binding
- ATP binding
- RNA binding
- TFIIH-class transcription factor binding
- double-stranded RNA binding
- single-stranded RNA binding
- snRNA binding
- chromatin DNA binding
- pre-mRNA binding
- identical protein binding
- poly(G) RNA binding
- chromatin binding
- DNA binding
- protein binding
- telomeric RNA binding
- actin binding
- transcription corepressor activity
- poly(C) RNA binding
- ribonucleoprotein complex binding