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NUP214 nucleoporin 214 [ Homo sapiens (human) ]

Gene ID: 8021, updated on 8-Jul-2021

Summary

Official Symbol
NUP214provided by HGNC
Official Full Name
nucleoporin 214provided by HGNC
Primary source
HGNC:HGNC:8064
See related
Ensembl:ENSG00000126883 MIM:114350
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAN; CAIN; IIAE9
Summary
The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Expression
Broad expression in testis (RPKM 32.1), spleen (RPKM 10.1) and 24 other tissues See more
Orthologs
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Genomic context

See NUP214 in Genome Data Viewer
Location:
9q34.13
Exon count:
37
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (131125586..131234663)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (134000973..134110050)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene laminin subunit gamma 3 Neighboring gene LAMC3 intron enhancer-blocking element 9-2 Neighboring gene allograft inflammatory factor 1 like Neighboring gene RNA, U6 small nuclear 881, pseudogene Neighboring gene enhancer-blocking element 9-3 overlapping NUP214 Neighboring gene VISTA enhancer hs1963 Neighboring gene family with sequence similarity 78 member A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of nucleoporin 214kDa (NUP214) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Rev rev nup214 is involved in Rev-mediated nuclear export of HIV-1 mRNA through an interaction with eukaryotic initiation factor 5A (eIF-5A) which binds to Rev PubMed
rev the FG repeat region of nup214 interacts directly with Rev PubMed
rev truncated, defective forms of nup214 can inhibit Rev function PubMed
rev Rev can recruit nup214 to the nucleolus PubMed
rev the FG-containing repeat domain of Nup214 can inhibit Rev-mediated expression of viral proteins PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104525

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nuclear export signal receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables nuclear localization sequence binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in RNA export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mRNA export from nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within protein export from nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of nucleocytoplasmic transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasmic side of nuclear pore IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
nuclear pore complex protein Nup214
Names
CAN protein, putative oncogene
nucleoporin 214kDa

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_023371.1 RefSeqGene

    Range
    4993..114070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1383

mRNA and Protein(s)

  1. NM_001318324.2NP_001305253.1  nuclear pore complex protein Nup214 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two alternate splice sites at internal exons, compared to variant 2. It encodes isoform 3, which is shorter than isoform 2.
    Source sequence(s)
    AL157938, BC105998
    Consensus CDS
    CCDS83429.1
    UniProtKB/Swiss-Prot
    P35658
    Related
    ENSP00000396576.2, ENST00000411637.6
    Conserved Domains (5) summary
    pfam09789
    Location:723928
    DUF2353; Uncharacterized coiled-coil protein (DUF2353)
    sd00039
    Location:3991
    7WD40; WD40 repeat [structural motif]
    cl01807
    Location:18942012
    DUF1517; Protein of unknown function (DUF1517)
    cl02567
    Location:94265
    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 ...
    cl21456
    Location:15881664
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  2. NM_001318325.2NP_001305254.1  nuclear pore complex protein Nup214 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several exons and contains an alternate 5' terminal exon resulting in a distinct 5' UTR and 5' coding region, compared to variant 2. It encodes isoform 4, which is shorter and has a distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AK316417, AL157938, BC105998
    Consensus CDS
    CCDS83430.1
    UniProtKB/Swiss-Prot
    P35658
    UniProtKB/TrEMBL
    B7ZAV2
    Related
    ENSP00000436793.1, ENST00000483497.6
    Conserved Domains (2) summary
    PRK07003
    Location:347525
    PRK07003; DNA polymerase III subunits gamma and tau; Validated
    pfam04388
    Location:14350
    Hamartin; Hamartin protein
  3. NM_005085.4NP_005076.3  nuclear pore complex protein Nup214 isoform 2

    See identical proteins and their annotated locations for NP_005076.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
    Source sequence(s)
    AB159230, BC045620, BC105998, DB062584
    Consensus CDS
    CCDS6940.1
    UniProtKB/Swiss-Prot
    P35658
    Related
    ENSP00000352400.5, ENST00000359428.10
    Conserved Domains (5) summary
    pfam09789
    Location:733938
    DUF2353; Uncharacterized coiled-coil protein (DUF2353)
    sd00039
    Location:3991
    7WD40; WD40 repeat [structural motif]
    cl01807
    Location:19042022
    DUF1517; Protein of unknown function (DUF1517)
    cl02567
    Location:94265
    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 ...
    cl21456
    Location:15981674
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    131125586..131234663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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