ZFIN is now using GRCz12tu for Genomic Data
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
Genome Assembly
GRCz12tu
Annotation Status
Current
Description
Predicted to be a structural constituent of nuclear pore. Acts upstream of or within several processes, including digestive system development; dorsal/ventral pattern formation; and liver development. Predicted to be located in nucleus. Predicted to be part of nuclear pore central transport channel. Is expressed in ovary. Human ortholog(s) of this gene implicated in dystonia 37, early-onset with striatal lesions. Orthologous to human NUP54 (nucleoporin 54).
Genome Resources
Note
None
Comparative Information
Expression
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
Phenotype
All Phenotype Data
1 Figure from Yang et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nup54 Human Ortholog
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
Associated With nup54 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR025712 Nucleoporin Nup54, alpha-helical domain
Domain IPR040985 Nup54, C-terminal interacting domain
Family IPR024864 Nucleoporin Nup54/Nup57/Nup44
Domain Details Per Protein
Protein Additional Resources Length Nucleoporin Nup54, alpha-helical domain Nucleoporin Nup54/Nup57/Nup44 Nup54, C-terminal interacting domain
UniProtKB:A0A8M9PI50 InterPro 514
UniProtKB:A0A8M9PCH8 InterPro 516
UniProtKB:A0A8M9PCH4 InterPro 548
UniProtKB:A0A8M9PI46 InterPro 547
UniProtKB:A0A8M9PQ95 InterPro 560
UniProtKB:Q6NYN9 InterPro 353
UniProtKB:A0A8M9PTP0 InterPro 588
UniProtKB:A0A8M9PI41 InterPro 590
UniProtKB:A0A8M9PTP5 InterPro 545
UniProtKB:A0A8M9P371 InterPro 557
UniProtKB:A0A8M9P373 InterPro 517
UniProtKB:A0A8M9PQA0 InterPro 544
UniProtKB:A0A8M9PCH0 InterPro 591
UniProtKB:A0A8M9PTQ0 InterPro 513
UniProtKB:A0AB13AA51 InterPro 548
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA nup54-201 (1)
Ensembl
Ensembl 1,451 nt
ZFIN BLAST
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Genome Browsers
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations
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