Human Gene NUP205 (ENST00000285968.11) Description and Page Index
  Description: Homo sapiens nucleoporin 205 (NUP205), transcript variant 1, mRNA. (from RefSeq NM_015135)
RefSeq Summary (NM_015135): This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.51997.1, D86978.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000285968.11/ ENSP00000285968.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000285968.11
Gencode Gene: ENSG00000155561.15
Transcript (Including UTRs)
   Position: hg38 chr7:135,557,917-135,648,753 Size: 90,837 Total Exon Count: 43 Strand: +
Coding Region
   Position: hg38 chr7:135,557,945-135,648,556 Size: 90,612 Coding Exon Count: 43 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:135,557,917-135,648,753)mRNA (may differ from genome)Protein (2012 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGImyGene2neXtProtOMIM
PubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: NU205_HUMAN
DESCRIPTION: RecName: Full=Nuclear pore complex protein Nup205; AltName: Full=205 kDa nucleoporin; AltName: Full=Nucleoporin Nup205;
SUBUNIT: Forms a complex with NUP53, NUP93, NUP155 and lamin B.
SUBCELLULAR LOCATION: Nucleus membrane; Peripheral membrane protein (By similarity). Nucleus, nuclear pore complex (Probable).
SEQUENCE CAUTION: Sequence=BAA13214.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  MalaCards Disease Associations
  MalaCards Gene Search: NUP205
Diseases sorted by gene-association score: nephrotic syndrome, type 13* (1350), glomerulosclerosis, focal segmental, 1* (202), nephrotic syndrome (23), paget's disease of bone (7)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.81 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 384.35 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.5028-0.196 Picture PostScript Text
3' UTR -29.50197-0.150 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
IPR021827 - DUF3414

Pfam Domains:
PF11894 - Nuclear pore complex scaffold, nucleoporins 186/192/205

ModBase Predicted Comparative 3D Structure on Q92621
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0017056 structural constituent of nuclear pore

Biological Process:
GO:0006406 mRNA export from nucleus
GO:0006913 nucleocytoplasmic transport
GO:0015031 protein transport
GO:0016032 viral process
GO:0051028 mRNA transport
GO:0051292 nuclear pore complex assembly

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005643 nuclear pore
GO:0016020 membrane
GO:0031965 nuclear membrane
GO:0034399 nuclear periphery
GO:0044611 nuclear pore inner ring


-  Descriptions from all associated GenBank mRNAs
  BC136624 - Homo sapiens nucleoporin 205kDa, mRNA (cDNA clone MGC:168237 IMAGE:9020614), complete cds.
AK297307 - Homo sapiens cDNA FLJ60692 complete cds, highly similar to Nuclear pore complex protein Nup205.
D86978 - Homo sapiens mRNA for KIAA0225 gene.
BC146784 - Homo sapiens nucleoporin 205kDa, mRNA (cDNA clone MGC:166870 IMAGE:9007240), complete cds.
JD423439 - Sequence 404463 from Patent EP1572962.
JD082394 - Sequence 63418 from Patent EP1572962.
JD440667 - Sequence 421691 from Patent EP1572962.
JD489342 - Sequence 470366 from Patent EP1572962.
JD164088 - Sequence 145112 from Patent EP1572962.
JD177292 - Sequence 158316 from Patent EP1572962.
JD357051 - Sequence 338075 from Patent EP1572962.
AK293497 - Homo sapiens cDNA FLJ50078 complete cds, highly similar to Nuclear pore complex protein Nup205.
BC044255 - Homo sapiens nucleoporin 205kDa, mRNA (cDNA clone IMAGE:6050039), partial cds.
BC063612 - Homo sapiens nucleoporin 205kDa, mRNA (cDNA clone IMAGE:4993878), partial cds.
BC073947 - Homo sapiens nucleoporin 205kDa, mRNA (cDNA clone IMAGE:5415861), partial cds.
BC094868 - Homo sapiens nucleoporin 205kDa, mRNA (cDNA clone IMAGE:5423379), partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q92621 (Reactome details) participates in the following event(s):

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-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-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-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-8953854 Metabolism of RNA
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: A6H8X3, C7orf14, KIAA0225, NM_015135, NU205_HUMAN, Q86YC1, Q92621, uc003vsw.1, uc003vsw.2, uc003vsw.3, uc003vsw.4, uc003vsw.5
UCSC ID: uc003vsw.5
RefSeq Accession: NM_015135
Protein: Q92621 (aka NU205_HUMAN or N205_HUMAN)
CCDS: CCDS34759.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.