Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10762
Gene name Gene Name - the full gene name approved by the HGNC.
Nucleoporin 50
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NUP50
Synonyms (NCBI Gene) Gene synonyms aliases
NPAP60, NPAP60L
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.31
Summary Summary of gene provided in NCBI Entrez Gene.
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 i
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019568 hsa-miR-340-5p Sequencing 20371350
MIRT022473 hsa-miR-124-3p Proteomics 18668037
MIRT023675 hsa-miR-1-3p Proteomics 18668040
MIRT026042 hsa-miR-196a-5p Sequencing 20371350
MIRT027131 hsa-miR-103a-3p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12802065, 16648475, 25416956, 26496610, 31515488, 32296183
GO:0005643 Component Nuclear pore IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
GO:0006110 Process Regulation of glycolytic process TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604646 8065 ENSG00000093000
Protein
UniProt ID Q9UKX7
Protein name Nuclear pore complex protein Nup50 (50 kDa nucleoporin) (Nuclear pore-associated protein 60 kDa-like) (Nucleoporin Nup50)
Protein function Component of the nuclear pore complex that has a direct role in nuclear protein import (PubMed:20016008). Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and importin recycling (P
PDB 2EC1 , 3TJ3 , 7MO0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08911 NUP50 2 78 NUP50 (Nucleoporin 50 kDa) Domain
PF00638 Ran_BP1 347 468 RanBP1 domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highest levels in testis, peripheral blood leukocytes and fetal liver.
Sequence
MAKRNAEKELTDRNWDQEDEAEEVGTFSMASEEVLKNRAIKKAKRRNVGFESDTGGAFKG
FKGLVVPSGGGRFSGFGS
GAGGKPLEGLSNGNNITSAPPFASAKAAADPKVAFGSLAANG
PTTLVDKVSNPKTNGDSQQPSSSGLASSKACVGNAYHKQLAALNCSVRDWIVKHVNTNPL
CDLTPIFKDYEKYLANIEQQHGNSGRNSESESNKVAAETQSPSLFGSTKLQQESTFLFHG
NKTEDTPDKKMEVASEKKTDPSSLGATSASFNFGKKVDSSVLGSLSSVPLTGFSFSPGNS
SLFGKDTTQSKPVSSPFPTKPLEGQAEGDSGECKGGDEEENDEPPKVVVTEVKEEDAFYS
KKCKLFYKKDNEFKEKGIGTLHLKPTANQKTQLLVRADTNLGNILLNVLIPPNMPCTRTG
KNNVLIVCVPNPPIDEKNATMPVTMLIRVKTSEDADELHKILLEKKDA
Sequence length 468
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Nucleocytoplasmic transport
Amyotrophic lateral sclerosis
  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
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
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
tRNA processing in the nucleus
HCMV Early Events
HCMV Late Events
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Mental Depression Mental Depression GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Stomach Neoplasms Associate 33791386