Gene
nup54
- ID
- ZDB-GENE-040426-2263
- Name
- nucleoporin 54
- Symbol
- nup54 Nomenclature History
- Previous Names
-
- wu:fp63g06
- zgc:77551
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Involved in animal organ development; digestive system development; and dorsal/ventral pattern formation. Predicted to localize to nuclear pore. Is expressed in ovary. Orthologous to human NUP54 (nucleoporin 54).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Gautier et al., 2011
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Yang et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| dystonia 37, early-onset with striatal lesions | Alliance | Dystonia 37, early-onset, with striatal lesions | 620427 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Nucleoporin Nup54, alpha-helical domain | Nucleoporin Nup54/Nup57/Nup44 | Nup54, C-terminal interacting domain |
|---|---|---|---|---|
|
UniProtKB:A0A8M9PI50
|
514 | |||
|
UniProtKB:A0A8M9PCH8
|
516 | |||
|
UniProtKB:A0A8M9PCH4
|
548 | |||
|
UniProtKB:A0A8M9PI46
|
547 | |||
|
UniProtKB:A0A8M9PQ95
|
560 | |||
|
UniProtKB:Q6NYN9
|
353 | |||
|
UniProtKB:A0A8M9PTP0
|
588 | |||
|
UniProtKB:A0A8M9PI41
|
590 | |||
|
UniProtKB:A0A8M9PTP5
|
545 | |||
|
UniProtKB:A0A8M9P371
|
557 | |||
|
UniProtKB:A0A8M9P373
|
517 | |||
|
UniProtKB:A0A8M9PQA0
|
544 | |||
|
UniProtKB:A0A8M9PCH0
|
591 | |||
|
UniProtKB:A0A8M9PTQ0
|
513 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available