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    NUP205 nucleoporin 205 [ Homo sapiens (human) ]

    Gene ID: 23165, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NUP205provided by HGNC
    Official Full Name
    nucleoporin 205provided by HGNC
    Primary source
    HGNC:HGNC:18658
    See related
    Ensembl:ENSG00000155561 MIM:614352; AllianceGenome:HGNC:18658
    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
    NPHS13; C7orf14
    Summary
    This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in testis (RPKM 10.1), lymph node (RPKM 10.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NUP205 in Genome Data Viewer
    Location:
    7q33
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (135557917..135648753)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (136865154..136956021)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (135242665..135333501)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984123 Neighboring gene solute carrier family 23 member 4, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:134998844-134999016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:135023371-135023872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:135023873-135024372 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:135032494-135032998 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:135065068-135065648 Neighboring gene CCR4-NOT transcription complex subunit 4 Neighboring gene succinate dehydrogenase complex subunit D pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:135193920-135194825 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:135194826-135195730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26721 Neighboring gene Sharpr-MPRA regulatory region 5720 Neighboring gene protein max-like Neighboring gene MAX pseudogene

    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. Biallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left-right patterning. Zhang Y, et al. Cell Death Dis, 2020 Nov 23. PMID 33230144, Free PMC Article
    2. Bi-Allelic Mutations in NUP205 and NUP210 Are Associated With Abnormal Cardiac Left-Right Patterning. Chen W, et al. Circ Genom Precis Med, 2019 Jul. PMID 31306055
    3. Interaction of adenovirus type 5 E4orf4 with the nuclear pore subunit Nup205 is required for proper viral gene expression. Lu Y, et al. J Virol, 2014 Nov. PMID 25210169, Free PMC Article
    4. LncRNA HOTAIR Influences the Growth, Migration, and Invasion of Papillary Thyroid Carcinoma via Affection on the miR-488-5p/NUP205 Axis. Xia F, et al. Technol Cancer Res Treat, 2020 Jan-Dec. PMID 33107391, Free PMC Article
    5. LncRNA SNHG1 overexpression regulates the proliferation of acute myeloid leukemia cells through miR-488-5p/NUP205 axis. Bao XL, et al. Eur Rev Med Pharmacol Sci, 2019 Jul. PMID 31298340

    See all (157) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The role of the FSGS disease gene product and nuclear pore protein NUP205 in regulating nuclear localization and activity of transcriptional regulators YAP and TAZ.
      Title: The role of the FSGS disease gene product and nuclear pore protein NUP205 in regulating nuclear localization and activity of transcriptional regulators YAP and TAZ.
    2. Knockdown of FLT4, Nup98, and Nup205 Cellular Genes Effectively Suppresses the Reproduction of Influenza Virus Strain A/WSN/1933 (H1N1) In vitro.
      Title: Knockdown of FLT4, Nup98, and Nup205 Cellular Genes Effectively Suppresses the Reproduction of Influenza Virus Strain A/WSN/1933 (H1N1) In vitro.
    3. LncRNA HOTAIR Influences the Growth, Migration, and Invasion of Papillary Thyroid Carcinoma via Affection on the miR-488-5p/NUP205 Axis.
      Title: LncRNA HOTAIR Influences the Growth, Migration, and Invasion of Papillary Thyroid Carcinoma via Affection on the miR-488-5p/NUP205 Axis.
    4. LINC00887 regulates the proliferation of nasopharyngeal carcinoma via targeting miRNA-203b-3p to upregulate NUP205.
      Title: LINC00887 regulates the proliferation of nasopharyngeal carcinoma via targeting miRNA-203b-3p to upregulate NUP205.
    5. Biallelic loss of function NEK3 mutations deacetylate alpha-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left-right patterning.
      Title: Biallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left-right patterning.
    6. LncRNA SNHG1 overexpression regulates the proliferation of acute myeloid leukemia cells through miR-488-5p/NUP205 axis.
      Title: LncRNA SNHG1 overexpression regulates the proliferation of acute myeloid leukemia cells through miR-488-5p/NUP205 axis.
    7. NUP205 and NUP210 mutations are associated with defects in cardiac patterning.
      Title: Bi-Allelic Mutations in NUP205 and NUP210 Are Associated With Abnormal Cardiac Left-Right Patterning.
    8. NUP93 knockdown reduced the presence of NUP205 in the nuclear pore compex, and, reciprocally, a NUP205 alteration abrogated NUP93 interaction.
      Title: Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
    9. These data show for first time that adenovirus type 5 E4orf4 interacts with and modifies the nuclear pore complex and that Nup205-E4orf4 binding is required for normal regulation of viral gene expression and viral replication.
      Title: Interaction of adenovirus type 5 E4orf4 with the nuclear pore subunit Nup205 is required for proper viral gene expression.
    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

    Associated conditions

    Description Tests
    Nephrotic syndrome, type 13
    MedGen: C4225165 OMIM: 616893 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Interaction of HIV-1 Tat with Nup205 in T-cells is identified by a proteomic strategy based on affinity chromatography PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of nuclear pore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of nuclear pore IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nuclear pore complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear pore organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleocytoplasmic transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in nucleocytoplasmic transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear periphery IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear pore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear pore NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of nuclear pore inner ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    nuclear pore complex protein Nup205
    Names
    205 kDa nucleoporin
    nucleoporin Nup205

    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_051184.2 RefSeqGene

      Range
      5002..95838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001329434.2 → NP_001316363.2  nuclear pore complex protein Nup205 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC093107, KF458614
      Conserved Domains (1) summary
      pfam11894
      Location:1 → 1326
      Nup192; Nuclear pore complex scaffold, nucleoporins 186/192/205

    2. NM_015135.3 → NP_055950.2  nuclear pore complex protein Nup205 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC093107, KF458614
      Consensus CDS
      CCDS34759.1
      UniProtKB/Swiss-Prot
      A6H8X3, Q86YC1, Q92621
      Related
      ENSP00000285968.6, ENST00000285968.11
      Conserved Domains (1) summary
      pfam11894
      Location:168 → 1684
      Nup192; Nuclear pore complex scaffold, nucleoporins 186/192/205

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      135557917..135648753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      136865154..136956021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92621.3 GenPept UniProtKB/Swiss-Prot:Q92621

    Gene LinkOut

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

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