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NUP188 nucleoporin 188 [ Homo sapiens (human) ]

Gene ID: 23511, updated on 5-Mar-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
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Genomic context

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Location:
9q34.11
Exon count:
44
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128947699..129007096)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (141151108..141210530)
105.20220307 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: 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. 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
  2. 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
  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 (89) 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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

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