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    NUP58 nucleoporin 58 [ Homo sapiens (human) ]

    Gene ID: 9818, updated on 10-Dec-2024

    Summary

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    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
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    Genomic context

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    See NUP58 in Genome Data Viewer
    Location:
    13q12.13
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (25301625..25349800)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (24511318..24559471)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (25875763..25923938)

    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    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 (65) 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

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    Preferred Names
    nucleoporin p58/p45
    Names
    58 kDa nucleoporin
    nucleoporin 58kDa
    nucleoporin like 1
    nucleoporin-like protein 1

    NCBI Reference Sequences (RefSeq)

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    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
      A0A8Q3WKK3, 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, B3KW23
      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_2024_08

    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

      UniProtKB/TrEMBL
      A0A8Q3WKQ7

    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

      UniProtKB/TrEMBL
      A0A8Q3WKQ7

    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.

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