Gene
hnrnpua
- ID
- ZDB-GENE-030131-3731
- Name
- heterogeneous nuclear ribonucleoprotein Ua
- Symbol
- hnrnpua Nomenclature History
- Previous Names
-
- fc51c09
- wu:fc51c09
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have several functions, including basal RNA polymerase II transcription machinery binding activity; nucleic acid binding activity; and promoter-specific chromatin binding activity. Predicted to be involved in RNA localization to chromatin; regulation of nucleobase-containing compound metabolic process; and regulation of organelle organization. Predicted to colocalize with RNA polymerase II transcription factor complex. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 54. Orthologous to human HNRNPU (heterogeneous nuclear ribonucleoprotein U).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Griffin et al., 2021
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 54 | Alliance | Developmental and epileptic encephalopathy 54 | 617391 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001870 | B30.2/SPRY domain |
| Domain | IPR003034 | SAP domain |
| Domain | IPR003877 | SPRY domain |
| Domain | IPR035778 | Heterogeneous nuclear ribonucleoprotein U, SPRY domain |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036361 | SAP domain superfamily |
| Homologous_superfamily | IPR043136 | B30.2/SPRY domain superfamily |
Domain Details Per Protein
| Protein | Length | B30.2/SPRY domain | B30.2/SPRY domain superfamily | Concanavalin A-like lectin/glucanase domain superfamily | Heterogeneous nuclear ribonucleoprotein U, SPRY domain | P-loop containing nucleoside triphosphate hydrolase | SAP domain | SAP domain superfamily | SPRY domain |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7F3J2
|
760 | ||||||||
|
UniProtKB:A0A8M2B529
|
759 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hnrnpua-201
(1)
|
Ensembl | 5,924 nt |
Interactions and Pathways
No data available
Plasmids
No data available