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NUP205 nucleoporin 205 [ Homo sapiens (human) ]

Gene ID: 23165, updated on 3-Nov-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
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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 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. 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
  3. 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
  4. Knockdown of FLT4, Nup98, and Nup205 Cellular Genes Effectively Suppresses the Reproduction of Influenza Virus Strain A/WSN/1933 (H1N1) In vitro. Pashkov E, et al. Infect Disord Drug Targets, 2022. PMID 35339191
  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 (156) 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
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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

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