Nup214 nucleoporin 214 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nup214provided by MGI
Official Full Name: nucleoporin 214provided by MGI
Primary source: MGI:MGI:1095411
See related: Ensembl:ENSMUSG00000001855 AllianceGenome:MGI:1095411
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: CAN; D2H9S46E
Summary: A structural constituent of nuclear pore. Acts upstream of or within mRNA export from nucleus; protein import into nucleus; and regulation of cell cycle. Predicted to be located in nuclear envelope. Predicted to be part of nuclear pore. Is expressed in future spinal cord; lung; and nervous system. Human ortholog(s) of this gene implicated in acute lymphoblastic leukemia; acute myeloid leukemia; and brain disease. Orthologous to human NUP214 (nucleoporin 214). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 23.6), thymus adult (RPKM 16.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 21.97 cM

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (31864446..31943204)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (31974408..32053975)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

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Variation

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Alleles

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

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI043124 (e-PCR)
- UniSTS:158949

Tjp1 (e-PCR), detects polymorphism
- UniSTS:144635

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables nuclear export signal receptor activity	IEA Inferred from Electronic Annotation more info
enables nuclear localization sequence binding	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear localization sequence binding	IEA Inferred from Electronic Annotation more info
enables nuclear localization sequence 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	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mRNA export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA export from nucleus	ISO Inferred from Sequence Orthology more info
involved_in nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within protein export from nucleus	ISO Inferred from Sequence Orthology more info
involved_in protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of nucleocytoplasmic transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of nucleocytoplasmic transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasmic side of nuclear pore	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
part_of nuclear pore	IBA Inferred from Biological aspect of Ancestor more info
part_of nuclear pore	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: nuclear pore complex protein Nup214

Names: 214 kDa nucleoporin; nucleoporin Nup214

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_001408097.1 → NP_001395026.1 nuclear pore complex protein Nup214 isoform 2

Status: VALIDATED

Source sequence(s)

AL928893
NM_172268.3 → NP_758472.2 nuclear pore complex protein Nup214 isoform 1

See identical proteins and their annotated locations for NP_758472.2

Status: VALIDATED

Source sequence(s)

AL928893

Consensus CDS

CCDS38098.1

UniProtKB/Swiss-Prot

A2ATN2, Q80U93

Related

ENSMUSP00000066492.7, ENSMUST00000065398.13

Conserved Domains (4) summary

COG2319
Location:23 → 266

WD40; WD40 repeat [General function prediction only]

COG5651
Location:1730 → 2073

COG5651; PPE-repeat protein [Function unknown]

sd00039
Location:39 → 86

7WD40; WD40 repeat [structural motif]

cl02567
Location:94 → 216

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

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_000068.8 Reference GRCm39 C57BL/6J

Range

31864446..31943204

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036160853.1 → XP_036016746.1 nuclear pore complex protein Nup214 isoform X2

UniProtKB/TrEMBL

Q8CHS9

Conserved Domains (5) summary

PHA03247
Location:26 → 296

PHA03247; large tegument protein UL36; Provisional

COG1196
Location:287 → 478

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam15967
Location:780 → 965

Nucleoporin_FG2; Nucleoporin FG repeated region

pfam18617
Location:1511 → 1571

Nup214_FG; Nucleoporin Nup214 phenylalanine-glycine (FG) domain

cl11081
Location:1308 → 1564

dermokine
XM_017317376.2 → XP_017172865.1 nuclear pore complex protein Nup214 isoform X3

Conserved Domains (3) summary

PRK12799
Location:126 → 247

motB; flagellar motor protein MotB; Reviewed

PHA03247
Location:138 → 538

PHA03247; large tegument protein UL36; Provisional

pfam18617
Location:838 → 899

Nup214_FG; Nucleoporin Nup214 phenylalanine-glycine (FG) domain