U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

NUP58 nucleoporin 58 [ Homo sapiens (human) ]

Gene ID: 9818, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
NUP58provided by HGNC
Official Full Name
nucleoporin 58provided by HGNC
Primary source
HGNC:HGNC:20261
See related
Ensembl:ENSG00000139496 MIM:607615; AllianceGenome:HGNC:20261
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
NUP45; NUPL1; PRO2463
Summary
This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Expression
Broad expression in testis (RPKM 26.3), thyroid (RPKM 10.4) and 24 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
13q12.13
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (25301625..25349800)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (24511318..24559471)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (25875763..25916559)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:25861006-25861626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7487 Neighboring gene myotubularin related protein 6 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32788 Neighboring gene CRISPRi-validated cis-regulatory element chr13.188 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:25971441-25972042 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:25972043-25972644 Neighboring gene elongin B pseudogene 1 Neighboring gene ATPase phospholipid transporting 8A2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:26028835-26029335 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:26052317-26053192 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:26086829-26087701 Neighboring gene RNA, U6 small nuclear 78, pseudogene

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Macromolecular interactions in the nucleoporin p62 complex of rat nuclear pores: binding of nucleoporin p54 to the rod domain of p62. Buss F, et al. J Cell Biol, 1995 Feb. PMID 7531196, Free PMC Article
  2. Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene. Targa A, et al. EMBO J, 2021 Nov 2. PMID 34528284, Free PMC Article
  3. Gradient of increasing affinity of importin beta for nucleoporins along the pathway of nuclear import. Ben-Efraim I, et al. J Cell Biol, 2001 Jan 22. PMID 11266456, Free PMC Article
  4. Nuclear import of hepatic glucokinase depends upon glucokinase regulatory protein, whereas export is due to a nuclear export signal sequence in glucokinase. Shiota C, et al. J Biol Chem, 1999 Dec 24. PMID 10601273
  5. The Structure Inventory of the Nuclear Pore Complex. Schwartz TU. J Mol Biol, 2016 May 22. PMID 27016207, Free PMC Article

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene.
    Title: Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene.
  2. Results from a study on gene expression variability markers in early-stage human embryos shows that NUP58 is a putative expression variability marker for the 3-day, 8-cell embryo stage.
    Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
  3. The human gene NUPL1 shares 87% sequence identity with rat nucleoporin p58.
    Title: Macromolecular interactions in the nucleoporin p62 complex of rat nuclear pores: binding of nucleoporin p54 to the rod domain of p62.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • KIAA0410

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables nuclear localization sequence binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
enables structural constituent of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in mRNA transport IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleocytoplasmic transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein import into nucleus IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear envelope TAS
Traceable Author Statement
more info
  
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
  
part_of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of nuclear pore NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
nucleoporin p58/p45
Names
58 kDa nucleoporin
nucleoporin 58kDa
nucleoporin like 1
nucleoporin-like protein 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

Genomic

  1. NG_033956.2 RefSeqGene

    Range
    5002..45798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001008564.2 → NP_001008564.1  nucleoporin p58/p45 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b).
    Source sequence(s)
    AF113020, AK025800, AL138958, BC001104, BG330006, BP249090
    Consensus CDS
    CCDS31949.1
    UniProtKB/TrEMBL
    A0A8Q3WKQ7
    Related
    ENSP00000371137.3, ENST00000381718.8
    Conserved Domains (2) summary
    pfam10154
    Location:232 → 410
    DUF2362; Uncharacterized conserved protein (DUF2362)
    pfam15967
    Location:22 → 587
    Nucleoporin_FG2; Nucleoporin FG repeated region

  2. NM_001411001.1 → NP_001397930.1  nucleoporin p58/p45 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL138958, AL590787, AL646102
    Consensus CDS
    CCDS91790.1
    UniProtKB/TrEMBL
    A0A8Q3WKK5
    Related
    ENSP00000512030.1, ENST00000477876.3

  3. NM_001411002.1 → NP_001397931.1  nucleoporin p58/p45 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL138958, AL590787, AL646102
    Consensus CDS
    CCDS91791.1
    UniProtKB/TrEMBL
    A0A8Q3WKL7
    Related
    ENSP00000512029.1, ENST00000695572.2

  4. NM_014089.4 → NP_054808.1  nucleoporin p58/p45 isoform a

    See identical proteins and their annotated locations for NP_054808.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AF113020, AK025800, AL138958, BC001104, BP249090
    Consensus CDS
    CCDS9314.1
    UniProtKB/Swiss-Prot
    A6NI12, B4DZJ1, O43160, Q5JRG2, Q5JRG5, Q9BVL2
    UniProtKB/TrEMBL
    B3KW23
    Related
    ENSP00000371155.3, ENST00000381736.8
    Conserved Domains (1) summary
    pfam15967
    Location:3 → 599
    Nucleoporin_FG2; Nucleoporin FG repeated region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    25301625..25349800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430805.1 → XP_047286761.1  nucleoporin p58/p45 isoform X2

  2. XM_047430806.1 → XP_047286762.1  nucleoporin p58/p45 isoform X2

  3. XM_047430807.1 → XP_047286763.1  nucleoporin p58/p45 isoform X2

  4. XM_011535329.4 → XP_011533631.1  nucleoporin p58/p45 isoform X2

    See identical proteins and their annotated locations for XP_011533631.1

    Conserved Domains (1) summary
    pfam15967
    Location:1 → 325
    Nucleoporin_FG2; Nucleoporin FG repeated region

  5. XM_047430804.1 → XP_047286760.1  nucleoporin p58/p45 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    24511318..24559471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375226.1 → XP_054231201.1  nucleoporin p58/p45 isoform X2

  2. XM_054375227.1 → XP_054231202.1  nucleoporin p58/p45 isoform X2

  3. XM_054375225.1 → XP_054231200.1  nucleoporin p58/p45 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001008565.1: Suppressed sequence

    Description
    NM_001008565.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  2. NM_014778.1: Suppressed sequence

    Description
    NM_014778.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BVL2.1 GenPept UniProtKB/Swiss-Prot:Q9BVL2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous