Nup54 nucleoporin 54 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nup54provided by MGI
Official Full Name: nucleoporin 54provided by MGI
Primary source: MGI:MGI:1920460
See related: Ensembl:ENSMUSG00000034826 AllianceGenome:MGI:1920460
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 54kDa; 3110079L04Rik
Summary: Predicted to enable identical protein binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in several processes, including nuclear pore organization; protein localization to nucleus; and regulation of protein import into nucleus. Predicted to be located in nuclear envelope. Predicted to be part of nuclear pore central transport channel. Is expressed in pancreas epithelium. Human ortholog(s) of this gene implicated in dystonia 37, early-onset with striatal lesions. Orthologous to human NUP54 (nucleoporin 54). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 10.3), CNS E14 (RPKM 9.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 E2; 5 46.75 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (92563399..92583117, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (92415540..92435259, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables structural constituent of nuclear pore	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of nuclear pore	IEA Inferred from Electronic Annotation more info
enables structural constituent of nuclear pore	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in NLS-bearing protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA transport	IEA Inferred from Electronic Annotation more info
involved_in nuclear pore organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleocytoplasmic transport	ISO Inferred from Sequence Orthology more info
involved_in nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization to nuclear inner membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein targeting	IEA Inferred from Electronic Annotation more info
involved_in protein targeting	ISO Inferred from Sequence Orthology more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein import into nucleus	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
part_of nuclear pore	ISO Inferred from Sequence Orthology more info
part_of nuclear pore	NAS Non-traceable Author Statement more info	PubMed
part_of nuclear pore central transport channel	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: nuclear pore complex protein Nup54

Names: 54 kDa nucleoporin; nucleoporin 54kDa; nucleoporin Nup54

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001359995.1 → NP_001346924.1 nuclear pore complex protein Nup54 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC122365

Conserved Domains (1) summary

pfam13874
Location:359 → 494

Nup54; Nucleoporin complex subunit 54
NM_183392.2 → NP_899248.1 nuclear pore complex protein Nup54 isoform 2

See identical proteins and their annotated locations for NP_899248.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK133841, BQ032638, CJ049542

Consensus CDS

CCDS19430.1

UniProtKB/Swiss-Prot

Q3TSI2, Q8BTS4, Q8BU42

Related

ENSMUSP00000046540.9, ENSMUST00000038514.15

Conserved Domains (1) summary

pfam13874
Location:305 → 440

Nup54; Nucleoporin complex subunit 54

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

92563399..92583117 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006534959.5 → XP_006535022.1 nuclear pore complex protein Nup54 isoform X2

Conserved Domains (2) summary

pfam13874
Location:106 → 243

Nup54; Nucleoporin complex subunit 54

pfam18437
Location:259 → 297

Nup54_C; Nup54 C-terminal interacting domain
XM_017320895.3 → XP_017176384.1 nuclear pore complex protein Nup54 isoform X2

Conserved Domains (2) summary

pfam13874
Location:106 → 243

Nup54; Nucleoporin complex subunit 54

pfam18437
Location:259 → 297

Nup54_C; Nup54 C-terminal interacting domain
XM_006534958.5 → XP_006535021.1 nuclear pore complex protein Nup54 isoform X1

Conserved Domains (2) summary

pfam13874
Location:120 → 257

Nup54; Nucleoporin complex subunit 54

pfam18437
Location:273 → 311

Nup54_C; Nup54 C-terminal interacting domain
XM_030254531.2 → XP_030110391.1 nuclear pore complex protein Nup54 isoform X1

Conserved Domains (2) summary

pfam13874
Location:120 → 257

Nup54; Nucleoporin complex subunit 54

pfam18437
Location:273 → 311

Nup54_C; Nup54 C-terminal interacting domain