Gene
pabpn1
- ID
- ZDB-GENE-040426-2401
- Name
- poly(A) binding protein, nuclear 1
- Symbol
- pabpn1 Nomenclature History
- Previous Names
-
- fb19c03
- wu:fb17e03
- wu:fb18c06
- wu:fb19c03
- zgc:85979
- zgc:92452
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to have RNA binding activity. Human ortholog(s) of this gene implicated in oculopharyngeal muscular dystrophy. Orthologous to human PABPN1 (poly(A) binding protein nuclear 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:85979 (1 image)
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 |
|---|---|---|---|
| oculopharyngeal muscular dystrophy | Alliance | Oculopharyngeal muscular dystrophy | 164300 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Nucleotide-binding alpha-beta plait domain superfamily | RNA-binding domain superfamily | RNA recognition motif domain |
|---|---|---|---|---|
|
UniProtKB:A7YYD9
|
232 | |||
|
UniProtKB:Q6NUT4
|
284 | |||
|
UniProtKB:A0A8M2B9U2
|
228 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pabpn1-201
(1)
|
Ensembl | 1,737 nt | ||
| mRNA |
pabpn1-202
(1)
|
Ensembl | 2,661 nt | ||
| mRNA |
pabpn1-203
(1)
|
Ensembl | 2,289 nt | ||
| mRNA |
pabpn1-204
(1)
|
Ensembl | 843 nt |
Interactions and Pathways
No data available
Plasmids
No data available