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

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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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	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

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	nup54-201 (1) Ensembl	Ensembl		1,451 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations