ENSG00000213024


Homo sapiens

Features
Gene ID: ENSG00000213024
  
Biological name :NUP62
  
Synonyms : nucleoporin 62 / NUP62 / P37198
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.33
Gene start: 49906825
Gene end: 49929763
  
Corresponding Affymetrix probe sets: 202153_s_at (Human Genome U133 Plus 2.0 Array)   207740_s_at (Human Genome U133 Plus 2.0 Array)   214935_at (Human Genome U133 Plus 2.0 Array)   236505_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000470157
Ensembl peptide - ENSP00000471133
Ensembl peptide - ENSP00000471191
Ensembl peptide - ENSP00000472081
Ensembl peptide - ENSP00000472918
Ensembl peptide - ENSP00000473192
Ensembl peptide - ENSP00000305503
Ensembl peptide - ENSP00000407331
Ensembl peptide - ENSP00000468839
Ensembl peptide - ENSP00000468842
Ensembl peptide - ENSP00000468884
Ensembl peptide - ENSP00000468930
Ensembl peptide - ENSP00000469283
Ensembl peptide - ENSP00000470624
NCBI entrez gene - 23636     See in Manteia.
OMIM - 605815
RefSeq - NM_153718
RefSeq - NM_153719
RefSeq - NM_012346
RefSeq - NM_016553
RefSeq - NM_001193357
RefSeq Peptide - NP_714940
RefSeq Peptide - NP_714941
RefSeq Peptide - NP_036478
RefSeq Peptide - NP_001180286
RefSeq Peptide - NP_057637
swissprot - P37198
swissprot - A0A024QZF1
swissprot - M0QX10
swissprot - M0QX13
swissprot - M0QX64
swissprot - M0QXN5
swissprot - M0QYY0
swissprot - M0QZL5
swissprot - M0R0B7
swissprot - M0R1S1
swissprot - M0R302
Ensembl - ENSG00000213024
  
Related genetic diseases (OMIM): 271930 - Striatonigral degeneration, infantile, 271930
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
 nup62lENSDARG00000020527Danio rerio
 ENSGALG00000004856Gallus gallus
 Nup62ENSMUSG00000109511Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9H1M0 / NUP62CL / nucleoporin 62 C-terminal likeENSG0000019808818


Protein motifs (from Interpro)
Interpro ID Name
 IPR007758  Nucleoporin, NSP1-like, C-terminal
 IPR026010  Nucleoporin NSP1/NUP62
 IPR033072  Nuclear pore glycoprotein p62, metazoa


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000278 mitotic cell cycle IEA
 biological_processGO:0006110 regulation of glycolytic process TAS
 biological_processGO:0006351 transcription, DNA-templated ISS
 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:0006913 nucleocytoplasmic transport IEA
 biological_processGO:0007077 mitotic nuclear envelope disassembly TAS
 biological_processGO:0007080 mitotic metaphase plate congression IMP
 biological_processGO:0007098 centrosome cycle IMP
 biological_processGO:0007100 mitotic centrosome separation IMP
 biological_processGO:0007166 cell surface receptor signaling pathway NAS
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007569 cell aging IEA
 biological_processGO:0008219 cell death ISS
 biological_processGO:0008285 negative regulation of cell proliferation ISS
 biological_processGO:0009755 hormone-mediated signaling pathway NAS
 biological_processGO:0009966 regulation of signal transduction NAS
 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:0042059 negative regulation of epidermal growth factor receptor signaling pathway IEA
 biological_processGO:0042306 regulation of protein import into nucleus IEA
 biological_processGO:0043066 negative regulation of apoptotic process ISS
 biological_processGO:0043069 negative regulation of programmed cell death ISS
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling ISS
 biological_processGO:0043407 negative regulation of MAP kinase activity IEA
 biological_processGO:0045742 positive regulation of epidermal growth factor receptor signaling pathway NAS
 biological_processGO:0045840 positive regulation of mitotic nuclear division IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISS
 biological_processGO:0046578 regulation of Ras protein signal transduction NAS
 biological_processGO:0046580 negative regulation of Ras protein signal transduction IEA
 biological_processGO:0046601 positive regulation of centriole replication IMP
 biological_processGO:0051028 mRNA transport IEA
 biological_processGO:0051169 nuclear transport IEA
 biological_processGO:0060236 regulation of mitotic spindle organization IMP
 biological_processGO:0060964 regulation of gene silencing by miRNA TAS
 biological_processGO:0070208 protein heterotrimerization IEA
 biological_processGO:0071426 ribonucleoprotein complex export from nucleus IBA
 biological_processGO:0075733 intracellular transport of virus TAS
 biological_processGO:0098534 centriole assembly IMP
 biological_processGO:1900034 regulation of cellular response to heat TAS
 biological_processGO:1903438 positive regulation of mitotic cytokinetic process IMP
 biological_processGO:1904781 positive regulation of protein localization to centrosome IMP
 cellular_componentGO:0000922 spindle pole IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005635 nuclear envelope TAS
 cellular_componentGO:0005642 annulate lamellae IEA
 cellular_componentGO:0005643 nuclear pore IEA
 cellular_componentGO:0005737 cytoplasm NAS
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0031965 nuclear membrane IDA
 cellular_componentGO:0043657 host cell IEA
 cellular_componentGO:0044613 nuclear pore central transport channel IBA
 cellular_componentGO:0072686 mitotic spindle IDA
 cellular_componentGO:0090543 Flemming body IDA
 molecular_functionGO:0003682 chromatin binding NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005543 phospholipid binding IBA
 molecular_functionGO:0017056 structural constituent of nuclear pore IEA
 molecular_functionGO:0019894 kinesin binding IEA
 molecular_functionGO:0030159 receptor signaling complex scaffold activity ISS
 molecular_functionGO:0030544 Hsp70 protein binding IEA
 molecular_functionGO:0042169 SH2 domain binding ISS
 molecular_functionGO:0043130 ubiquitin binding ISS
 molecular_functionGO:0046966 thyroid hormone receptor binding ISS
 molecular_functionGO:0051425 PTB domain binding IEA
 molecular_functionGO:0051879 Hsp90 protein binding IEA


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
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:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000648 Optic atrophy 
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 HP:0001249 Mental retardation 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001266 Choreoathetosis 
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002376 Developmental regression 
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 HP:0007281 Developmental arrest 
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 HP:0012043 Pendular nystagmus "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000138750 NUP54 / Q7Z3B4 / nucleoporin 54  / complex
 ENSG00000213024 NUP62 / P37198 / nucleoporin 62  / complex
 ENSG00000139496 NUP58 / Q9BVL2 / nucleoporin 58  / complex






 

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