NUP214 nucleoporin 214 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUP214provided by HGNC
Official Full Name: nucleoporin 214provided by HGNC
Primary source: HGNC:HGNC:8064
See related: Ensembl:ENSG00000126883 MIM:114350; AllianceGenome:HGNC:8064
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: mouse all
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Genomic context

Location:: 9q34.13

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (131125586..131234663)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (143333818..143442978)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (134000973..134110050)

Chromosome 9 - NC_000009.12 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: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution.
Title: NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution.
The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review.
Title: The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review.
SET-NUP214 and MLL cooperatively regulate the promoter activity of the HoxA10 gene.
Title: SET-NUP214 and MLL cooperatively regulate the promoter activity of the HoxA10 gene.
[SET-NUP214-positive pediatric acute myeloid leukemia: a report of two cases].
Title: [SET-NUP214-positive pediatric acute myeloid leukemia: a report of two cases].
[Prognostic significance of DEK-NUP214 fusion gene in patients with acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation].
Title: [Prognostic significance of DEK-NUP214 fusion gene in patients with acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation].
these findings indicate that CRM1 acts as a key molecule that connects leukemogenic proteins to aberrant HOX gene regulation either via nucleoporin-CRM1 interaction (for SET-Nup214) or NES-CRM1 interaction (for NPM1c).
Title: Chromatin-bound CRM1 recruits SET-Nup214 and NPM1c onto HOX clusters causing aberrant HOX expression in leukemia cells.
Loss of Nup214 inhibited nuclear export of recombination signal-binding protein for immunoglobulin kappaJ region (RBP-J), the DNA-binding component of the Notch pathway. NUP214 fusion proteins, causative for certain cases of T-cell acute lymphatic leukemia, potentially contribute to tumorigenesis via a Notch-dependent mechanism.
Title: The nuclear pore proteins Nup88/214 and T-cell acute lymphatic leukemia-associated NUP214 fusion proteins regulate Notch signaling.
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Title: Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
oncogenic kinase NUP214-ABL1, through its downstream effector STAT5, directly cooperates with TLX1 at the transcriptional level.
Title: Cooperative Enhancer Activation by TLX1 and STAT5 Drives Development of NUP214-ABL1/TLX1-Positive T Cell Acute Lymphoblastic Leukemia.
we propose that while NUP214 complete deficiency may be lethal in humans, partial deficiency results in a novel autosomal recessive disorder characterized by severe encephalopathy and early death.
Title: NUP214 deficiency causes severe encephalopathy and microcephaly in humans.

Submit: New GeneRIF Correction See all GeneRIFs (49)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acute lymphoid leukemia MedGen: C0023449 OMIM: 613065 GeneReviews: Not available	Compare labs
Acute myeloid leukemia MedGen: C0023467 OMIM: 601626 GeneReviews: CEBPA-Associated Familial Acute Myeloid Leukemia (AML), ETV6 Thrombocytopenia and Predisposition to Leukemia, RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies, DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	Compare labs
Encephalopathy, acute, infection-induced, susceptibility to, 9 MedGen: C5193089 OMIM: 618426 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65743 (e-PCR)
- UniSTS:69

G54640 (e-PCR)
- UniSTS:117841

G59922 (e-PCR)
- UniSTS:137065

RH25261 (e-PCR)
- UniSTS:61571

RH68080 (e-PCR)
- UniSTS:72375

RH69984 (e-PCR)
- UniSTS:25853

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
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

Process	Evidence Code	Pubs
involved_in RNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
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
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
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
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
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: nuclear pore complex protein Nup214

Names: CAN protein, putative oncogene; nucleoporin 214kDa

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.

Genomic

NG_023371.1 RefSeqGene

Range

4993..114070

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1383

mRNA and Protein(s)

NM_001318324.2 → NP_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/TrEMBL

A0A494C1F2

Related

ENSP00000396576.2, ENST00000411637.6

Conserved Domains (5) summary

pfam09789
Location:723 → 928

DUF2353; Uncharacterized coiled-coil protein (DUF2353)

sd00039
Location:39 → 91

7WD40; WD40 repeat [structural motif]

cl01807
Location:1894 → 2012

DUF1517; Protein of unknown function (DUF1517)

cl02567
Location:94 → 265

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:1588 → 1664

Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
NM_001318325.2 → NP_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/TrEMBL

B4DYZ6, B7ZAV2

Related

ENSP00000436793.1, ENST00000483497.6

Conserved Domains (2) summary

PRK07003
Location:347 → 525

PRK07003; DNA polymerase III subunits gamma and tau; Validated

pfam04388
Location:14 → 350

Hamartin; Hamartin protein
NM_005085.4 → NP_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

A6NFQ0, P35658, Q15010, Q3KQZ0, Q5JUP7, Q75R47, Q86XD3

UniProtKB/TrEMBL

A0A494C1F2

Related

ENSP00000352400.5, ENST00000359428.10

Conserved Domains (5) summary

pfam09789
Location:733 → 938

DUF2353; Uncharacterized coiled-coil protein (DUF2353)

sd00039
Location:39 → 91

7WD40; WD40 repeat [structural motif]

cl01807
Location:1904 → 2022

DUF1517; Protein of unknown function (DUF1517)

cl02567
Location:94 → 265

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:1598 → 1674

Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily