Format

Send to:

Choose Destination

NUP50 nucleoporin 50 [ Homo sapiens (human) ]

Gene ID: 10762, updated on 23-Dec-2019

Summary

Official Symbol
NUP50provided by HGNC
Official Full Name
nucleoporin 50provided by HGNC
Primary source
HGNC:HGNC:8065
See related
Ensembl:ENSG00000093000 MIM:604646
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPAP60; NPAP60L
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]
Expression
Ubiquitous expression in bone marrow (RPKM 16.3), lymph node (RPKM 14.7) and 25 other tissues See more
Orthologs

Genomic context

See NUP50 in Genome Data Viewer
Location:
22q13.31
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (45163925..45188017)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45559726..45583892)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene PHD finger protein 21B Neighboring gene uncharacterized LOC101927551 Neighboring gene Sharpr-MPRA regulatory region 5228 Neighboring gene NUP50 divergent transcript Neighboring gene uncharacterized LOC112267891 Neighboring gene uncharacterized LOC105373064 Neighboring gene KIAA0930 Neighboring gene microRNA 1249 Neighboring gene HNF1 motif-containing MPRA enhancer 63

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of nucleoporin 50kDa (NUP50) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC39961

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular transport of virus TAS
Traceable Author Statement
more info
 
mRNA export from nucleus TAS
Traceable Author Statement
more info
 
protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein sumoylation TAS
Traceable Author Statement
more info
 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
regulation of gene silencing by miRNA TAS
Traceable Author Statement
more info
 
regulation of glycolytic process TAS
Traceable Author Statement
more info
 
tRNA export from nucleus TAS
Traceable Author Statement
more info
 
viral process TAS
Traceable Author Statement
more info
 
viral transcription TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
host cell IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear pore IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
nuclear pore complex protein Nup50
Names
50 kDa nucleoporin
nuclear pore-associated protein 60L
nucleoporin 50kD
nucleoporin 50kDa
nucleoporin Nup50

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_007172.4NP_009103.2  nuclear pore complex protein Nup50 isoform b

    See identical proteins and their annotated locations for NP_009103.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (b).
    Source sequence(s)
    AL008718, BC070133, Z82243
    Consensus CDS
    CCDS14062.1
    UniProtKB/Swiss-Prot
    Q9UKX7
    UniProtKB/TrEMBL
    A0A024R4X7
    Related
    ENSP00000345895.3, ENST00000347635.9
    Conserved Domains (2) summary
    cd13170
    Location:350466
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
    pfam08911
    Location:367
    NUP50; NUP50 (Nucleoporin 50 kDa)
  2. NM_153645.2NP_705931.1  nuclear pore complex protein Nup50 isoform a

    See identical proteins and their annotated locations for NP_705931.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 2. The resulting isoform (a) is shorter at the N-terminus compared to isoform b.
    Source sequence(s)
    AL008718, BC028125, Z82243
    Consensus CDS
    CCDS14063.1
    UniProtKB/Swiss-Prot
    Q9UKX7
    Related
    ENSP00000379403.2, ENST00000396096.6
    Conserved Domains (2) summary
    cd13170
    Location:322438
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
    pfam08911
    Location:239
    NUP50; NUP50 (Nucleoporin 50 kDa)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    45163925..45188017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261312.1XP_005261369.1  nuclear pore complex protein Nup50 isoform X2

    See identical proteins and their annotated locations for XP_005261369.1

    UniProtKB/Swiss-Prot
    Q9UKX7
    Conserved Domains (2) summary
    cd13170
    Location:322438
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
    pfam08911
    Location:239
    NUP50; NUP50 (Nucleoporin 50 kDa)
  2. XM_005261314.1XP_005261371.1  nuclear pore complex protein Nup50 isoform X2

    See identical proteins and their annotated locations for XP_005261371.1

    UniProtKB/Swiss-Prot
    Q9UKX7
    Related
    ENSP00000385555.2, ENST00000407019.6
    Conserved Domains (2) summary
    cd13170
    Location:322438
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
    pfam08911
    Location:239
    NUP50; NUP50 (Nucleoporin 50 kDa)
  3. XM_017028538.2XP_016884027.1  nuclear pore complex protein Nup50 isoform X3

    UniProtKB/TrEMBL
    B4E2D3
    Conserved Domains (1) summary
    cd13170
    Location:100216
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
  4. XM_011529833.1XP_011528135.1  nuclear pore complex protein Nup50 isoform X1

    See identical proteins and their annotated locations for XP_011528135.1

    UniProtKB/Swiss-Prot
    Q9UKX7
    UniProtKB/TrEMBL
    A0A024R4X7
    Conserved Domains (2) summary
    cd13170
    Location:350466
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
    pfam08911
    Location:367
    NUP50; NUP50 (Nucleoporin 50 kDa)
  5. XM_024452146.1XP_024307914.1  nuclear pore complex protein Nup50 isoform X1

    Conserved Domains (2) summary
    cd13170
    Location:350466
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
    pfam08911
    Location:367
    NUP50; NUP50 (Nucleoporin 50 kDa)
  6. XM_017028537.2XP_016884026.1  nuclear pore complex protein Nup50 isoform X2

    UniProtKB/Swiss-Prot
    Q9UKX7
    Conserved Domains (2) summary
    cd13170
    Location:322438
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
    pfam08911
    Location:239
    NUP50; NUP50 (Nucleoporin 50 kDa)
  7. XM_006724104.1XP_006724167.1  nuclear pore complex protein Nup50 isoform X2

    See identical proteins and their annotated locations for XP_006724167.1

    UniProtKB/Swiss-Prot
    Q9UKX7
    Conserved Domains (2) summary
    cd13170
    Location:322438
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
    pfam08911
    Location:239
    NUP50; NUP50 (Nucleoporin 50 kDa)
  8. XM_006724103.1XP_006724166.1  nuclear pore complex protein Nup50 isoform X1

    See identical proteins and their annotated locations for XP_006724166.1

    UniProtKB/Swiss-Prot
    Q9UKX7
    UniProtKB/TrEMBL
    A0A024R4X7
    Conserved Domains (2) summary
    cd13170
    Location:350466
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
    pfam08911
    Location:367
    NUP50; NUP50 (Nucleoporin 50 kDa)
Support Center