Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases N.A.
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000093000 Gene ID 10762 Accession 8065
Symbol NUP50 Alias NPAP60;NPAP60L Full Name nucleoporin 50
Status Confidence Length 24093 bases Strand Plus strand
Position 22 : 45163925 - 45188017 RNA binding domain N.A.
Summary 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 that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
36670122 Integrative genetic analysis illuminates ALS heritability and identifies risk genes. Salim Megat 2023-01-20 Nature communications

Transcripts

Name Transcript ID bp Protein Translation ID
NUP50-201 ENST00000347635 5151 468aa ENSP00000345895
NUP50-203 ENST00000407019 2059 440aa ENSP00000385555
NUP50-207 ENST00000424634 579 45aa ENSP00000415062
NUP50-204 ENST00000417702 584 8aa ENSP00000394450
NUP50-219 ENST00000497960 986 No protein -
NUP50-213 ENST00000461437 531 No protein -
NUP50-210 ENST00000434760 763 30aa ENSP00000388426
NUP50-208 ENST00000430547 537 76aa ENSP00000397960
NUP50-215 ENST00000484186 431 No protein -
NUP50-211 ENST00000445721 443 10aa ENSP00000398297
NUP50-218 ENST00000493456 478 No protein -
NUP50-202 ENST00000396096 1895 440aa ENSP00000379403
NUP50-212 ENST00000461194 550 No protein -
NUP50-209 ENST00000432340 551 4aa ENSP00000400465
NUP50-205 ENST00000419387 1018 30aa ENSP00000391987
NUP50-206 ENST00000422489 543 178aa ENSP00000416264
NUP50-216 ENST00000486184 821 No protein -
NUP50-217 ENST00000491860 493 No protein -
NUP50-214 ENST00000469163 3507 No protein -

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
25651Arteries6.4090000E-006-
25657Arteries3.0010000E-006-
59044Pulmonary Disease, Chronic Obstructive1.1240000E-00522837378

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005635located_in nuclear envelope1IDAHomo_sapiens(9606)Component
GO:0005643part_of nuclear pore1NASHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm2IDA,TASHomo_sapiens(9606)Component
GO:0006606involved_in protein import into nucleus1IBAHomo_sapiens(9606)Process
GO:0006913involved_in nucleocytoplasmic transport1NASHomo_sapiens(9606)Process
GO:0031965located_in nuclear membrane1IDAHomo_sapiens(9606)Component
GO:0051028involved_in mRNA transport1IEAHomo_sapiens(9606)Process

Expression