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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Metabolic proteins Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.33
Chromosome location (bp)
49906825 - 49929764
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Essential component of the nuclear pore complex 1. The N-terminal is probably involved in nucleocytoplasmic transport 2. The C-terminal is involved in protein-protein interaction probably via coiled-coil formation, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex 3,4. Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation 5. It might be involved in protein recruitment to the centrosome after nuclear breakdown 6....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Host-virus interaction, mRNA transport, Protein transport, Translocation, Transport
Gene summary (Entrez)i
Useful information about the gene from Entrez
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. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Metabolic proteins Transporters Transporter channels and pores Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000922[spindle pole] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005543[phospholipid binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005643[nuclear pore] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005856[cytoskeleton] GO:0006405[RNA export from nucleus] GO:0006606[protein import into nucleus] GO:0006913[nucleocytoplasmic transport] GO:0007080[mitotic metaphase plate congression] GO:0007098[centrosome cycle] GO:0007100[mitotic centrosome separation] GO:0007166[cell surface receptor signaling pathway] GO:0008219[cell death] GO:0008285[negative regulation of cell population proliferation] GO:0009966[regulation of signal transduction] GO:0015031[protein transport] GO:0017056[structural constituent of nuclear pore] GO:0030159[signaling receptor complex adaptor activity] GO:0030544[Hsp70 protein binding] GO:0031965[nuclear membrane] GO:0042059[negative regulation of epidermal growth factor receptor signaling pathway] GO:0042169[SH2 domain binding] GO:0043066[negative regulation of apoptotic process] GO:0043069[negative regulation of programmed cell death] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043130[ubiquitin binding] GO:0043407[negative regulation of MAP kinase activity] GO:0044613[nuclear pore central transport channel] GO:0045742[positive regulation of epidermal growth factor receptor signaling pathway] GO:0045840[positive regulation of mitotic nuclear division] GO:0045893[positive regulation of DNA-templated transcription] GO:0046578[regulation of Ras protein signal transduction] GO:0046580[negative regulation of Ras protein signal transduction] GO:0046601[positive regulation of centriole replication] GO:0051028[mRNA transport] GO:0051169[nuclear transport] GO:0051425[PTB domain binding] GO:0051879[Hsp90 protein binding] GO:0060236[regulation of mitotic spindle organization] GO:0072686[mitotic spindle] GO:0090398[cellular senescence] GO:0090543[Flemming body] GO:0098534[centriole assembly] GO:1903438[positive regulation of mitotic cytokinetic process] GO:1904781[positive regulation of protein localization to centrosome] GO:1990904[ribonucleoprotein complex]
Metabolic proteins Transporters Transporter channels and pores Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000922[spindle pole] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005543[phospholipid binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005643[nuclear pore] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005856[cytoskeleton] GO:0006405[RNA export from nucleus] GO:0006606[protein import into nucleus] GO:0006913[nucleocytoplasmic transport] GO:0007080[mitotic metaphase plate congression] GO:0007098[centrosome cycle] GO:0007100[mitotic centrosome separation] GO:0007166[cell surface receptor signaling pathway] GO:0008219[cell death] GO:0008285[negative regulation of cell population proliferation] GO:0009966[regulation of signal transduction] GO:0015031[protein transport] GO:0017056[structural constituent of nuclear pore] GO:0030159[signaling receptor complex adaptor activity] GO:0031965[nuclear membrane] GO:0042169[SH2 domain binding] GO:0043066[negative regulation of apoptotic process] GO:0043069[negative regulation of programmed cell death] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043130[ubiquitin binding] GO:0044613[nuclear pore central transport channel] GO:0045742[positive regulation of epidermal growth factor receptor signaling pathway] GO:0045840[positive regulation of mitotic nuclear division] GO:0045893[positive regulation of DNA-templated transcription] GO:0046578[regulation of Ras protein signal transduction] GO:0046601[positive regulation of centriole replication] GO:0051028[mRNA transport] GO:0051169[nuclear transport] GO:0060236[regulation of mitotic spindle organization] GO:0072686[mitotic spindle] GO:0090543[Flemming body] GO:0098534[centriole assembly] GO:1903438[positive regulation of mitotic cytokinetic process] GO:1904781[positive regulation of protein localization to centrosome] GO:1990904[ribonucleoprotein complex]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Transporters Transporter channels and pores Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000922[spindle pole] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005543[phospholipid binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005643[nuclear pore] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005856[cytoskeleton] GO:0006405[RNA export from nucleus] GO:0006606[protein import into nucleus] GO:0006913[nucleocytoplasmic transport] GO:0007080[mitotic metaphase plate congression] GO:0007098[centrosome cycle] GO:0007100[mitotic centrosome separation] GO:0007166[cell surface receptor signaling pathway] GO:0008219[cell death] GO:0008285[negative regulation of cell population proliferation] GO:0009966[regulation of signal transduction] GO:0015031[protein transport] GO:0017056[structural constituent of nuclear pore] GO:0030159[signaling receptor complex adaptor activity] GO:0031965[nuclear membrane] GO:0042169[SH2 domain binding] GO:0043066[negative regulation of apoptotic process] GO:0043069[negative regulation of programmed cell death] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043130[ubiquitin binding] GO:0044613[nuclear pore central transport channel] GO:0045742[positive regulation of epidermal growth factor receptor signaling pathway] GO:0045840[positive regulation of mitotic nuclear division] GO:0045893[positive regulation of DNA-templated transcription] GO:0046578[regulation of Ras protein signal transduction] GO:0046601[positive regulation of centriole replication] GO:0051028[mRNA transport] GO:0051169[nuclear transport] GO:0060236[regulation of mitotic spindle organization] GO:0072686[mitotic spindle] GO:0090543[Flemming body] GO:0098534[centriole assembly] GO:1903438[positive regulation of mitotic cytokinetic process] GO:1904781[positive regulation of protein localization to centrosome] GO:1990904[ribonucleoprotein complex]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Transporters Transporter channels and pores Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000922[spindle pole] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005543[phospholipid binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005643[nuclear pore] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005856[cytoskeleton] GO:0006405[RNA export from nucleus] GO:0006606[protein import into nucleus] GO:0006913[nucleocytoplasmic transport] GO:0007080[mitotic metaphase plate congression] GO:0007098[centrosome cycle] GO:0007100[mitotic centrosome separation] GO:0007166[cell surface receptor signaling pathway] GO:0008219[cell death] GO:0008285[negative regulation of cell population proliferation] GO:0009966[regulation of signal transduction] GO:0015031[protein transport] GO:0017056[structural constituent of nuclear pore] GO:0030159[signaling receptor complex adaptor activity] GO:0031965[nuclear membrane] GO:0042169[SH2 domain binding] GO:0043066[negative regulation of apoptotic process] GO:0043069[negative regulation of programmed cell death] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043130[ubiquitin binding] GO:0044613[nuclear pore central transport channel] GO:0045742[positive regulation of epidermal growth factor receptor signaling pathway] GO:0045840[positive regulation of mitotic nuclear division] GO:0045893[positive regulation of DNA-templated transcription] GO:0046578[regulation of Ras protein signal transduction] GO:0046601[positive regulation of centriole replication] GO:0051028[mRNA transport] GO:0051169[nuclear transport] GO:0060236[regulation of mitotic spindle organization] GO:0072686[mitotic spindle] GO:0090543[Flemming body] GO:0098534[centriole assembly] GO:1903438[positive regulation of mitotic cytokinetic process] GO:1904781[positive regulation of protein localization to centrosome] GO:1990904[ribonucleoprotein complex]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
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