Nup133 nucleoporin 133 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nup133provided by MGI
Official Full Name: nucleoporin 133provided by MGI
Primary source: MGI:MGI:2442620
See related: Ensembl:ENSMUSG00000039509 AllianceGenome:MGI:2442620
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: mermaid
Summary: Predicted to be a structural constituent of nuclear pore. Acts upstream of or within nervous system development; paraxial mesoderm development; and somite development. Part of nuclear pore. Is expressed in several structures, including brain; epiblast; male reproductive gland or organ; neural tube; and paraxial mesenchyme. Human ortholog(s) of this gene implicated in Galloway-Mowat syndrome and nephrotic syndrome type 18. Orthologous to human NUP133 (nucleoporin 133). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 8.3), liver E14.5 (RPKM 8.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E2; 8 72.27 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (124623862..124676019, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (123897114..123949265, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Nup133 is dispensable for interphase and postmitotic nuclear pore complex scaffold assembly in pluripotent mouse embryonic stem cell.
Title: Nup133 Is Required for Proper Nuclear Pore Basket Assembly and Dynamics in Embryonic Stem Cells.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Gene trapped (1) 1 citation
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C76534 (e-PCR)
- UniSTS:159839

AU016331 (e-PCR)
- UniSTS:179848

RH125990 (e-PCR)
- UniSTS:162702

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables structural constituent of nuclear pore	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of nuclear pore	ISO Inferred from Sequence Orthology more info
enables structural constituent of nuclear pore	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA export from nucleus	ISO Inferred from Sequence Orthology more info
involved_in mRNA export from nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within mRNA transport	IEA Inferred from Electronic Annotation more info
involved_in nephron development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear pore organization	ISO Inferred from Sequence Orthology more info
involved_in nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within paraxial mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in poly(A)+ mRNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within somite development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
colocalizes_with kinetochore	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
part_of nuclear pore	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear pore	ISO Inferred from Sequence Orthology more info
part_of nuclear pore	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of nuclear pore	NAS Non-traceable Author Statement more info	PubMed
part_of nuclear pore outer ring	IBA Inferred from Biological aspect of Ancestor more info
part_of nuclear pore outer ring	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: nuclear pore complex protein Nup133

Names: 133 kDa nucleoporin; nucleoporin Nup133

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_172288.3 → NP_758492.2 nuclear pore complex protein Nup133

See identical proteins and their annotated locations for NP_758492.2

Status: VALIDATED

Source sequence(s)

AC123825, AC147266

Consensus CDS

CCDS22765.1

UniProtKB/Swiss-Prot

E9QLJ8, Q8R0G9

UniProtKB/TrEMBL

Q8CDZ5

Related

ENSMUSP00000048084.8, ENSMUST00000044795.8

Conserved Domains (1) summary

pfam03177
Location:594 → 1097

Nucleoporin_C; Non-repetitive/WGA-negative nucleoporin C-terminal

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_000074.7 Reference GRCm39 C57BL/6J

Range

124623862..124676019 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006530964.5 → XP_006531027.1 nuclear pore complex protein Nup133 isoform X1

Conserved Domains (1) summary

pfam03177
Location:184 → 454

Nucleoporin_C; Non-repetitive/WGA-negative nucleoporin C-terminal