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    NUP188 nucleoporin 188 [ Homo sapiens (human) ]

    Gene ID: 23511, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NUP188provided by HGNC
    Official Full Name
    nucleoporin 188provided by HGNC
    Primary source
    HGNC:HGNC:17859
    See related
    Ensembl:ENSG00000095319 MIM:615587; AllianceGenome:HGNC:17859
    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
    hNup188; KIAA0169; SANDSTEF
    Summary
    The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]
    Expression
    Broad expression in testis (RPKM 47.7), skin (RPKM 10.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NUP188 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128947699..129007096)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (141151108..141210530)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131709978..131769375)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12425 Neighboring gene phytanoyl-CoA dioxygenase domain containing 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131704025-131704223 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131708642-131709204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131709205-131709766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:131709767-131710328 Neighboring gene dolichol kinase Neighboring gene uncharacterized LOC101929314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131773679-131774589 Neighboring gene SH3 domain containing GRB2 like, endophilin B2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131784821-131785628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131785629-131786436 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr9:131788471-131789034 and GRCh37_chr9:131789035-131789598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131789599-131790162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131790847-131791586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131791587-131792326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29101 Neighboring gene mitoguardin 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:131821359-131822558 Neighboring gene uncharacterized LOC124902334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29102 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131833123-131834072 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131834073-131835022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20359 Neighboring gene dolichyldiphosphatase 1

    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. Identification of a new vertebrate nucleoporin, Nup188, with the use of a novel organelle trap assay. Miller BR, et al. Mol Biol Cell, 2000 Oct. PMID 11029043, Free PMC Article
    2. Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication. Vishnoi N, et al. J Cell Biol, 2020 Mar 2. PMID 32211895, Free PMC Article
    3. Pleiotropic requirements for human TDP-43 in the regulation of cell and organelle homeostasis. Roczniak-Ferguson A, et al. Life Sci Alliance, 2019 Oct. PMID 31527135, Free PMC Article
    4. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. Muir AM, et al. Am J Hum Genet, 2020 May 7. PMID 32275884, Free PMC Article
    5. Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia. Del Viso F, et al. Dev Cell, 2016 Sep 12. PMID 27593162, Free PMC Article

    See all (100) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication.
      Title: Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication.
    2. results implicate bi-allelic loss-of-function NUP188 variants in a recessive syndrome characterized by a distinct neurologic, ophthalmologic, and facial phenotype
      Title: Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
    3. Results identified Nup188 as a novel TDP-43 target which controls the mRNA splicing of Nup188.
      Title: Pleiotropic requirements for human TDP-43 in the regulation of cell and organelle homeostasis.
    4. we show that knockdown of Nup188 or its binding partner Nup93 leads to a loss of cilia during embryonic development while leaving NPC function largely intact. Many data, including the localization of endogenous Nup188/93 at cilia bases, support their direct role at cilia. Super-resolution imaging of Nup188 shows two barrel-like structures
      Title: Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia.
    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
    Sandestig-stefanova syndrome
    MedGen: C5394118 OMIM: 618804 GeneReviews: Not available
    		Compare labs

    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

    Potential readthrough

    Included gene: PHYHD1

    Homology

    Clone Names

    • FLJ21639

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables structural constituent of nuclear pore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    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 import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		  
    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
    nucleoporin NUP188
    Names
    nucleoporin 188kDa
    nucleoporin NUP188 homolog

    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_033111.1 RefSeqGene

      Range
      5007..64404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015354.3 → NP_056169.1  nucleoporin NUP188

      See identical proteins and their annotated locations for NP_056169.1

      Status: REVIEWED

      Source sequence(s)
      AA731883, D79991, HY094051
      Consensus CDS
      CCDS35156.1
      UniProtKB/Swiss-Prot
      Q14675, Q2TA87, Q5SRE5, Q7Z3K8, Q8IWF1
      Related
      ENSP00000361658.2, ENST00000372577.2
      Conserved Domains (1) summary
      pfam10487
      Location:31 → 941
      Nup188; Nucleoporin subcomplex protein binding to Pom34

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      128947699..129007096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      141151108..141210530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SRE5.1 GenPept UniProtKB/Swiss-Prot:Q5SRE5

    Gene LinkOut

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

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