ENSG00000126883


Homo sapiens

Features
Gene ID: ENSG00000126883
  
Biological name :NUP214
  
Synonyms : nucleoporin 214 / NUP214 / P35658
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q34.13
Gene start: 131125561
Gene end: 131234670
  
Corresponding Affymetrix probe sets: 202155_s_at (Human Genome U133 Plus 2.0 Array)   211261_at (Human Genome U133 Plus 2.0 Array)   228902_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000435364
Ensembl peptide - ENSP00000434223
Ensembl peptide - ENSP00000435583
Ensembl peptide - ENSP00000437139
Ensembl peptide - ENSP00000436793
Ensembl peptide - ENSP00000435874
Ensembl peptide - ENSP00000352400
Ensembl peptide - ENSP00000396576
Ensembl peptide - ENSP00000405014
Ensembl peptide - ENSP00000416934
Ensembl peptide - ENSP00000433606
Ensembl peptide - ENSP00000433654
NCBI entrez gene - 8021     See in Manteia.
OMIM - 114350
RefSeq - XM_017015167
RefSeq - NM_001318324
RefSeq - NM_001318325
RefSeq - NM_005085
RefSeq - XM_005272216
RefSeq - XM_005272218
RefSeq - XM_005272219
RefSeq - XM_006717292
RefSeq - XM_011519053
RefSeq - XM_011519055
RefSeq Peptide - NP_001305253
RefSeq Peptide - NP_001305254
RefSeq Peptide - NP_005076
swissprot - E9PS86
swissprot - E9PKD2
swissprot - B7ZAV2
swissprot - H0Y837
swissprot - H0YDH2
swissprot - H0YDI2
swissprot - H0YDS4
swissprot - H0YED3
swissprot - H0YF36
swissprot - P35658
swissprot - A0A0A0MSW3
Ensembl - ENSG00000126883
  
Related genetic diseases (OMIM): 601626 - Leukemia, acute myeloid, somatic, 601626
  613065 - Leukemia, T-cell acute lymphoblastic, somatic, 613065
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nup214ENSDARG00000016212Danio rerio
 NUP214ENSGALG00000041111Gallus gallus
 Nup214ENSMUSG00000001855Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR026054  Nuclear pore complex protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006110 regulation of glycolytic process TAS
 biological_processGO:0006405 RNA export from nucleus IBA
 biological_processGO:0006406 mRNA export from nucleus TAS
 biological_processGO:0006409 tRNA export from nucleus TAS
 biological_processGO:0006606 protein import into nucleus IBA
 biological_processGO:0006611 protein export from nucleus IMP
 biological_processGO:0007077 mitotic nuclear envelope disassembly TAS
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016032 viral process TAS
 biological_processGO:0016925 protein sumoylation TAS
 biological_processGO:0019083 viral transcription TAS
 biological_processGO:0043488 regulation of mRNA stability TAS
 biological_processGO:0046822 regulation of nucleocytoplasmic transport IMP
 biological_processGO:0051028 mRNA transport IEA
 biological_processGO:0051726 regulation of cell cycle IEA
 biological_processGO:0060964 regulation of gene silencing by miRNA TAS
 biological_processGO:0075733 intracellular transport of virus TAS
 biological_processGO:1900034 regulation of cellular response to heat TAS
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005643 nuclear pore IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005925 focal adhesion IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0043657 host cell IEA
 cellular_componentGO:0044613 nuclear pore central transport channel IBA
 cellular_componentGO:0044615 nuclear pore nuclear basket IBA
 cellular_componentGO:1990876 cytoplasmic side of nuclear pore IDA
 molecular_functionGO:0005049 nuclear export signal receptor activity IDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008139 nuclear localization sequence binding IBA
 molecular_functionGO:0017056 structural constituent of nuclear pore IBA


Pathways (from Reactome)
Pathway description
ISG15 antiviral mechanism
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNA derived from an Intron-Containing Transcript
Rev-mediated nuclear export of HIV RNA
Transport of Ribonucleoproteins into the Host Nucleus
NS1 Mediated Effects on Host Pathways
Viral Messenger RNA Synthesis
NEP/NS2 Interacts with the Cellular Export Machinery
Regulation of Glucokinase by Glucokinase Regulatory Protein
Nuclear import of Rev protein
Vpr-mediated nuclear import of PICs
snRNP Assembly
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Nuclear Pore Complex (NPC) Disassembly
Regulation of HSF1-mediated heat shock response
SUMOylation of SUMOylation proteins
HuR (ELAVL1) binds and stabilizes mRNA
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
Transcriptional regulation by small RNAs
tRNA processing in the nucleus


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0006721 Acute lymphatic leukemia "A form of acute leukemia characterized by excess lympoblasts." [HPO:curators]
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 HP:0010982 Polygenic inheritance "A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci." [HPO:probinson, ISBN:978-0192628961]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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