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    NUP43 nucleoporin 43 [ Homo sapiens (human) ]

    Gene ID: 348995, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NUP43provided by HGNC
    Official Full Name
    nucleoporin 43provided by HGNC
    Primary source
    HGNC:HGNC:21182
    See related
    Ensembl:ENSG00000120253 MIM:608141; AllianceGenome:HGNC:21182
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p42; bA350J20.1
    Summary
    Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.0), appendix (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NUP43 in Genome Data Viewer
    Location:
    6q25.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (149724315..149749358, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (150924084..150946307, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (150045451..150067665, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene katanin catalytic subunit A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25266 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17664 Neighboring gene large tumor suppressor kinase 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:150022675-150023256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17665 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:150045663-150045865 Neighboring gene uncharacterized LOC645967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25267 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:150069877-150070842 Neighboring gene Sharpr-MPRA regulatory region 3985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:150071808-150072310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:150072311-150072813 Neighboring gene protein-L-isoaspartate (D-aspartate) O-methyltransferase Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:150106480-150106982 Neighboring gene uncharacterized LOC107986660 Neighboring gene BTB domain containing 10 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. High NUP43 expression might independently predict poor overall survival in luminal A and in HER2+ breast cancer. Tian C, et al. Future Oncol, 2018 Jun. PMID 29402145
    2. Crystal structure of human nuclear pore complex component NUP43. Xu C, et al. FEBS Lett, 2015 Oct 24. PMID 26391640
    3. Proteomic analysis of the mammalian nuclear pore complex. Cronshaw JM, et al. J Cell Biol, 2002 Sep 2. PMID 12196509, Free PMC Article
    4. The discovery of a Werner Helicase Interacting Protein (WHIP) association with the nuclear pore complex. Kaur S, et al. Cell Cycle, 2010 Aug 1. PMID 20676042
    5. Centrin 2 localizes to the vertebrate nuclear pore and plays a role in mRNA and protein export. Resendes KK, et al. Mol Cell Biol, 2008 Mar. PMID 18172010, Free PMC Article

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • FLJ13287

    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 cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    colocalizes_with kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
    		  
    part_of nuclear pore NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of nuclear pore outer ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of nuclear pore outer ring IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear pore outer ring NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    nucleoporin Nup43
    Names
    nucleoporin 43kDa
    nup107-160 subcomplex subunit Nup43

    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.

    mRNA and Protein(s)

    1. NM_198887.3 → NP_942590.1  nucleoporin Nup43

      See identical proteins and their annotated locations for NP_942590.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the supproted protein.
      Source sequence(s)
      AF514997, AK074311, BC046637, BC047539, BG527619, DC324759
      Consensus CDS
      CCDS5218.1
      UniProtKB/Swiss-Prot
      B4E2F0, Q8NFH3, Q9H8S0
      UniProtKB/TrEMBL
      B3KTT0
      Related
      ENSP00000342262.2, ENST00000340413.7
      Conserved Domains (2) summary
      sd00039
      Location:78 → 133
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:73 → 294
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RNA

    1. NR_104456.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF514997, AK074311, AK095994, BC046637, DC324759

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      149724315..149749358 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418728.1 → XP_047274684.1  nucleoporin Nup43 isoform X3

      UniProtKB/Swiss-Prot
      B4E2F0, Q8NFH3, Q9H8S0

    2. XM_005266960.6 → XP_005267017.1  nucleoporin Nup43 isoform X2

      See identical proteins and their annotated locations for XP_005267017.1

      UniProtKB/TrEMBL
      B3KTT0
      Conserved Domains (3) summary
      COG2319
      Location:72 → 309
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:78 → 133
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:73 → 309
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. XM_011535799.4 → XP_011534101.1  nucleoporin Nup43 isoform X4

      UniProtKB/TrEMBL
      B3KTT0
      Conserved Domains (3) summary
      COG2319
      Location:72 → 302
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:78 → 133
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:73 → 294
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. XM_005266962.5 → XP_005267019.1  nucleoporin Nup43 isoform X5

      See identical proteins and their annotated locations for XP_005267019.1

      UniProtKB/TrEMBL
      B3KTT0
      Conserved Domains (3) summary
      COG2319
      Location:72 → 307
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:78 → 133
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:73 → 294
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. XM_011535798.4 → XP_011534100.1  nucleoporin Nup43 isoform X1

      UniProtKB/TrEMBL
      B3KTT0
      Conserved Domains (3) summary
      COG2319
      Location:72 → 302
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:78 → 133
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:73 → 294
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      150924084..150946307 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355343.1 → XP_054211318.1  nucleoporin Nup43 isoform X2

    2. XM_054355344.1 → XP_054211319.1  nucleoporin Nup43 isoform X4

    3. XM_054355345.1 → XP_054211320.1  nucleoporin Nup43 isoform X5

    4. XM_054355342.1 → XP_054211317.1  nucleoporin Nup43 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024647.4: Suppressed sequence

      Description
      NM_024647.4: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFH3.1 GenPept UniProtKB/Swiss-Prot:Q8NFH3

    Gene LinkOut

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

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