Human Gene NUP214 (uc004cag.3)
  Description: Homo sapiens nucleoporin 214kDa (NUP214), mRNA.
RefSeq Summary (NM_005085): 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].
Transcript (Including UTRs)
   Position: hg19 chr9:134,000,981-134,109,091 Size: 108,111 Total Exon Count: 36 Strand: +
Coding Region
   Position: hg19 chr9:134,001,092-134,108,874 Size: 107,783 Coding Exon Count: 36 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:134,000,981-134,109,091)mRNA (may differ from genome)Protein (2090 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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GeneCardsGeneNetworkH-INVHGNCHPRDLynx
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: NU214_HUMAN
DESCRIPTION: RecName: Full=Nuclear pore complex protein Nup214; AltName: Full=214 kDa nucleoporin; AltName: Full=Nucleoporin Nup214; AltName: Full=Protein CAN;
FUNCTION: May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex.
SUBUNIT: Homodimer. Interacts with DDX19, NUP88, XPO1 and XPO5. Interacts with human herpes virus 1 (HHV-1) protein UL25; this interaction might be essential to the capsid docking onto the host nuclear pore.
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex. Note=Cytoplasmic filaments.
TISSUE SPECIFICITY: Expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other tissues or in whole embryos during development.
DOMAIN: Contains FG repeats.
PTM: Probably glycosylated as it reacts with wheat germ agglutinin (WGA).
DISEASE: Note=A chromosomal aberration involving NUP214 is found in a subset of acute myeloid leukemia (AML); also known as acute non-lymphocytic leukemia. Translocation t(6;9)(p23;q34) with DEK. It results in the formation of a DEK-CAN fusion gene.
DISEASE: Note=A chromosomal aberration involving NUP214 is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with SET.
SEQUENCE CAUTION: Sequence=BAD07398.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CAN.html";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NUP214
CDC HuGE Published Literature: NUP214

-  MalaCards Disease Associations
  MalaCards Gene Search: NUP214
Diseases sorted by gene-association score: acute myeloid leukemia with t(6;9)(p23;q34)* (350), leukemia, acute lymphoblastic* (192), leukemia, acute myeloid* (168), myeloid leukemia (6), plasma cell neoplasm (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.91 RPKM in Testis
Total median expression: 407.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.90111-0.513 Picture PostScript Text
3' UTR -47.30217-0.218 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026054 - Nucleoporin
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat

SCOP Domains:
88633 - Positive stranded ssRNA viruses
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50978 - WD40 repeat-like
69322 - Tricorn protease domain 2
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2OIT - X-ray MuPIT 3FHC - X-ray MuPIT 3FMO - X-ray MuPIT 3FMP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P35658
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005049 nuclear export signal receptor activity
GO:0005515 protein binding
GO:0008139 nuclear localization sequence binding
GO:0017056 structural constituent of nuclear pore

Biological Process:
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0006606 protein import into nucleus
GO:0006611 protein export from nucleus
GO:0015031 protein transport
GO:0016032 viral process
GO:0043488 regulation of mRNA stability
GO:0046822 regulation of nucleocytoplasmic transport
GO:0051028 mRNA transport
GO:0051726 regulation of cell cycle

Cellular Component:
GO:0005634 nucleus
GO:0005643 nuclear pore
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0005925 focal adhesion
GO:0043231 intracellular membrane-bounded organelle
GO:0044613 nuclear pore central transport channel
GO:0044615 nuclear pore nuclear basket
GO:1990876 cytoplasmic side of nuclear pore


-  Descriptions from all associated GenBank mRNAs
  BC105998 - Homo sapiens nucleoporin 214kDa, mRNA (cDNA clone MGC:104525 IMAGE:30531438), complete cds.
LF213701 - JP 2014500723-A/21204: Polycomb-Associated Non-Coding RNAs.
AL832609 - Homo sapiens mRNA; cDNA DKFZp451I0817 (from clone DKFZp451I0817).
X64228 - H.sapiens can mRNA.
BC045620 - Homo sapiens nucleoporin 214kDa, mRNA (cDNA clone MGC:39489 IMAGE:5268515), complete cds.
D14689 - Homo sapiens KIAA0023 mRNA, complete cds.
AB159230 - Homo sapiens KIAA0023 mRNA for KIAA0023 splice variant 1.
AB383710 - Synthetic construct DNA, clone: pF1KSDA0023, Homo sapiens NUP214 gene for nucleoporin 214kDa, complete cds, without stop codon, in Flexi system.
BX537986 - Homo sapiens mRNA; cDNA DKFZp686J0330 (from clone DKFZp686J0330).
AK316435 - Homo sapiens cDNA, FLJ79334 complete cds, highly similar to Nuclear pore complex protein Nup214.
AK316417 - Homo sapiens cDNA, FLJ79316 complete cds, highly similar to Nuclear pore complex protein Nup214.
AK302676 - Homo sapiens cDNA FLJ52369 complete cds, highly similar to Nuclear pore complex protein Nup214.
MA449278 - JP 2018138019-A/21204: Polycomb-Associated Non-Coding RNAs.
AK307573 - Homo sapiens cDNA, FLJ97521.
BC012500 - Homo sapiens nucleoporin 214kDa, mRNA (cDNA clone IMAGE:4508050).
AK310406 - Homo sapiens cDNA, FLJ17448.
LF205640 - JP 2014500723-A/13143: Polycomb-Associated Non-Coding RNAs.
LF346741 - JP 2014500723-A/154244: Polycomb-Associated Non-Coding RNAs.
AK128260 - Homo sapiens cDNA FLJ46396 fis, clone THYMU3003865.
AK310476 - Homo sapiens cDNA, FLJ17518.
AK303016 - Homo sapiens cDNA FLJ52377 complete cds, highly similar to Nuclear pore complex protein Nup214.
AK310515 - Homo sapiens cDNA, FLJ17557.
MA582318 - JP 2018138019-A/154244: Polycomb-Associated Non-Coding RNAs.
MA441217 - JP 2018138019-A/13143: Polycomb-Associated Non-Coding RNAs.
AK093773 - Homo sapiens cDNA FLJ36454 fis, clone THYMU2014067.
AJ420413 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 901558.
JD084692 - Sequence 65716 from Patent EP1572962.
JD073266 - Sequence 54290 from Patent EP1572962.
JD384480 - Sequence 365504 from Patent EP1572962.
JD078237 - Sequence 59261 from Patent EP1572962.
JD437111 - Sequence 418135 from Patent EP1572962.
JD389721 - Sequence 370745 from Patent EP1572962.
JD313744 - Sequence 294768 from Patent EP1572962.
JD461186 - Sequence 442210 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_npcPathway - Mechanism of Protein Import into the Nucleus

Reactome (by CSHL, EBI, and GO)

Protein P35658 (Reactome details) participates in the following event(s):

R-HSA-450387 HuR binds the CRM1 nuclear export machinery
R-HSA-75096 Docking of the TAP:EJC Complex with the NPC
R-HSA-165043 Rev multimer-bound HIV mRNA:Crm1:Ran:GTP complex associates with the NPC
R-HSA-180622 Vpr binds nucleoporins
R-HSA-180710 Rev:importin beta:B23 recruited to the nuclear pore
R-HSA-2990882 CDK1 phosphorylates NUP98
R-HSA-75098 mRNP complex dissociates from cytosolic face of NPC
R-HSA-165047 Translocation of nuclear RNA transport complex to cytoplasm
R-HSA-180732 Translocation of Rev:importin-beta:B23 to the nucleus
R-HSA-2990880 NEK6/NEK7 phosphorylates NUP98
R-HSA-170796 NPC transports GCK1:GKRP from cytosol to nucleoplasm
R-HSA-5578744 Importin-8 imports AGO2:miRNA into the nucleus
R-HSA-6783483 tRNA:XPOT:RAN:GTP translocates from the nucleus to the cytosol
R-HSA-3000348 RANBP2 SUMOylates SP100 with SUMO2
R-HSA-3000399 RANBP2 SUMOylates SP100 with SUMO1
R-HSA-3000411 RANBP2 SUMOylates PML with SUMO2
R-HSA-4570493 RANBP2 (NUP358) SUMOylates HNRNPC with SUMO1
R-HSA-4615872 RANBP2 SUMOylates HDAC4 with SUMO1
R-HSA-4615987 RANBP2 SUMOylates HDAC4 with SUMO2,3
R-HSA-5228508 RANBP2 SUMOylates PML with SUMO1
R-HSA-5228525 RANBP2 SUMOylates TOP2A with SUMO1
R-HSA-192627 Viral mRNA Export
R-HSA-192925 Export of Spliced Viral mRNA
R-HSA-5252041 NPC transports Hikeshi:HSP70s:ATP from cytosol to nucleoplasm
R-HSA-450520 HuR (ELAVL1) binds and stabilizes mRNA
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-165054 Rev-mediated nuclear export of HIV RNA
R-HSA-180910 Vpr-mediated nuclear import of PICs
R-HSA-180746 Nuclear import of Rev protein
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly
R-HSA-450531 Regulation of mRNA stability by proteins that bind AU-rich elements
R-HSA-72202 Transport of Mature Transcript to Cytoplasm
R-HSA-162599 Late Phase of HIV Life Cycle
R-HSA-177243 Interactions of Rev with host cellular proteins
R-HSA-176033 Interactions of Vpr with host cellular proteins
R-HSA-2980766 Nuclear Envelope Breakdown
R-HSA-170822 Regulation of Glucokinase by Glucokinase Regulatory Protein
R-HSA-168276 NS1 Mediated Effects on Host Pathways
R-HSA-1169408 ISG15 antiviral mechanism
R-HSA-5578749 Transcriptional regulation by small RNAs
R-HSA-6784531 tRNA processing in the nucleus
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-4570464 SUMOylation of RNA binding proteins
R-HSA-4551638 SUMOylation of chromatin organization proteins
R-HSA-4615885 SUMOylation of DNA replication proteins
R-HSA-168325 Viral Messenger RNA Synthesis
R-HSA-3371453 Regulation of HSF1-mediated heat shock response
R-HSA-8953854 Metabolism of RNA
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-162587 HIV Life Cycle
R-HSA-162909 Host Interactions of HIV factors
R-HSA-68875 Mitotic Prophase
R-HSA-70171 Glycolysis
R-HSA-168253 Host Interactions with Influenza Factors
R-HSA-1169410 Antiviral mechanism by IFN-stimulated genes
R-HSA-211000 Gene Silencing by RNA
R-HSA-72306 tRNA processing
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-168273 Influenza Viral RNA Transcription and Replication
R-HSA-3371556 Cellular response to heat stress
R-HSA-162906 HIV Infection
R-HSA-68886 M Phase
R-HSA-70326 Glucose metabolism
R-HSA-168254 Influenza Infection
R-HSA-913531 Interferon Signaling
R-HSA-74160 Gene expression (Transcription)
R-HSA-2990846 SUMOylation
R-HSA-168255 Influenza Life Cycle
R-HSA-2262752 Cellular responses to stress
R-HSA-5663205 Infectious disease
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-597592 Post-translational protein modification
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-1643685 Disease
R-HSA-1640170 Cell Cycle
R-HSA-1430728 Metabolism
R-HSA-168256 Immune System
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A6NFQ0, CAIN, CAN, KIAA0023, NM_005085, NP_005076, NU214_HUMAN, P35658, Q15010, Q3KQZ0, Q5JUP7, Q75R47, Q86XD3
UCSC ID: uc004cag.3
RefSeq Accession: NM_005085
Protein: P35658 (aka NU214_HUMAN or N214_HUMAN)
CCDS: CCDS6940.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005085.2
exon count: 36CDS single in 3' UTR: no RNA size: 6614
ORF size: 6273CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 12610.00frame shift in genome: no % Coverage: 99.80
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.