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 enable poly(A) binding activity. Predicted to be active in nucleus. 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