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NUP50 nucleoporin 50 [ Homo sapiens (human) ]

Gene ID: 10762, updated on 6-Sep-2022

Summary

Official Symbol
NUP50provided by HGNC
Official Full Name
nucleoporin 50provided by HGNC
Primary source
HGNC:HGNC:8065
See related
Ensembl:ENSG00000093000 MIM:604646; AllianceGenome:HGNC:8065
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
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Genomic context

See NUP50 in Genome Data Viewer
Location:
22q13.31
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (45163925..45188017)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45648418..45672453)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45559806..45583898)

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 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
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in mRNA transport IEA
Inferred from Electronic Annotation
more info
 
involved_in nucleocytoplasmic transport IC
Inferred by Curator
more info
PubMed 
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of nuclear pore IC
Inferred by Curator
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in 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)

NEW Try the new Transcript table

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
    Q9P1K5, 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:364
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024452146.2XP_024307914.1  nuclear pore complex protein Nup50 isoform X1

    UniProtKB/Swiss-Prot
    Q9P1K5
    UniProtKB/TrEMBL
    A0A024R4X7
    Conserved Domains (2) summary
    cd13170
    Location:350466
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
    pfam08911
    Location:364
    NUP50; NUP50 (Nucleoporin 50 kDa)
  2. XM_011529833.2XP_011528135.1  nuclear pore complex protein Nup50 isoform X1

    See identical proteins and their annotated locations for XP_011528135.1

    UniProtKB/Swiss-Prot
    Q9P1K5, Q9UKX7
    UniProtKB/TrEMBL
    A0A024R4X7
    Conserved Domains (2) summary
    cd13170
    Location:350466
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
    pfam08911
    Location:364
    NUP50; NUP50 (Nucleoporin 50 kDa)
  3. XM_006724103.2XP_006724166.1  nuclear pore complex protein Nup50 isoform X1

    See identical proteins and their annotated locations for XP_006724166.1

    UniProtKB/Swiss-Prot
    Q9P1K5, Q9UKX7
    UniProtKB/TrEMBL
    A0A024R4X7
    Conserved Domains (2) summary
    cd13170
    Location:350466
    RanBD_NUP50; Nucleoporin 50 Ran-binding domain
    pfam08911
    Location:364
    NUP50; NUP50 (Nucleoporin 50 kDa)
  4. XM_047441071.1XP_047297027.1  nuclear pore complex protein Nup50 isoform X2

  5. XM_047441072.1XP_047297028.1  nuclear pore complex protein Nup50 isoform X2

    Related
    ENSP00000385555.2, ENST00000407019.6
  6. XM_047441073.1XP_047297029.1  nuclear pore complex protein Nup50 isoform X3

    UniProtKB/TrEMBL
    E9PFD1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    45648418..45672453
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_153684.1: Suppressed sequence

    Description
    NM_153684.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.