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-acetylgluco... See more...

Aliases for NUP188 Gene

Aliases for NUP188 Gene

  • Nucleoporin 188 2 3 5
  • KIAA0169 2 3 4
  • Nucleoporin NUP188 Homolog 3 4
  • Nucleoporin 188kDa 2 3
  • HNup188 3 4

External Ids for NUP188 Gene

Previous HGNC Symbols for NUP188 Gene

  • KIAA0169

Previous GeneCards Identifiers for NUP188 Gene

  • GC09U900613
  • GC09P128789
  • GC09P130749
  • GC09P131709
  • GC09P101317

Summaries for NUP188 Gene

Entrez Gene Summary for NUP188 Gene

  • 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]

GeneCards Summary for NUP188 Gene

NUP188 (Nucleoporin 188) is a Protein Coding gene. Diseases associated with NUP188 include Heart Disease and Renpenning Syndrome 1. Among its related pathways are Metabolism of proteins and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is ENSG00000251184.

UniProtKB/Swiss-Prot Summary for NUP188 Gene

Additional gene information for NUP188 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP188 Gene

Genomics for NUP188 Gene

GeneHancer (GH) Regulatory Elements for NUP188 Gene

Promoters and enhancers for NUP188 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUP188 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP188

Top Transcription factor binding sites by QIAGEN in the NUP188 gene promoter:
  • FOXL1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • p300
  • Pax-2
  • POU2F1
  • POU2F1a

Genomic Locations for NUP188 Gene

Genomic Locations for NUP188 Gene
chr9:128,947,693-129,007,096
(GRCh38/hg38)
Size:
59,404 bases
Orientation:
Plus strand
chr9:131,709,977-131,769,375
(GRCh37/hg19)
Size:
59,399 bases
Orientation:
Plus strand

Genomic View for NUP188 Gene

Genes around NUP188 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP188 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP188 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP188 Gene

Proteins for NUP188 Gene

  • Protein details for NUP188 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SRE5-NU188_HUMAN
    Recommended name:
    Nucleoporin NUP188 homolog
    Protein Accession:
    Q5SRE5
    Secondary Accessions:
    • Q14675
    • Q2TA87
    • Q7Z3K8
    • Q8IWF1

    Protein attributes for NUP188 Gene

    Size:
    1749 amino acids
    Molecular mass:
    196043 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAD97835.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUP188 Gene

    Alternative splice isoforms for NUP188 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUP188 Gene

Post-translational modifications for NUP188 Gene

  • Ubiquitination at Lys38, Lys344, Lys470, Lys479, Lys481, Lys500, Lys720, Lys812, Lys1409, Lys1496, Lys1684, and Lys1727
  • Modification sites at PhosphoSitePlus

Other Protein References for NUP188 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NUP188 Gene

Domains & Families for NUP188 Gene

Gene Families for NUP188 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for NUP188 Gene

Suggested Antigen Peptide Sequences for NUP188 Gene

GenScript: Design optimal peptide antigens:
  • Nucleoporin NUP188 homolog (NU188_HUMAN)
  • NUP188 protein (Q9BS12_HUMAN)
genes like me logo Genes that share domains with NUP188: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NUP188 Gene

Function for NUP188 Gene

Molecular function for NUP188 Gene

UniProtKB/Swiss-Prot Function:
May function as a component of the nuclear pore complex (NPC).

Phenotypes From GWAS Catalog for NUP188 Gene

Gene Ontology (GO) - Molecular Function for NUP188 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017056 structural constituent of nuclear pore IBA 21873635
genes like me logo Genes that share ontologies with NUP188: view
genes like me logo Genes that share phenotypes with NUP188: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NUP188 Gene

Localization for NUP188 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP188 Gene

Nucleus, nuclear pore complex.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUP188 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoli (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUP188 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore IEA --
GO:0016020 membrane HDA 19946888
GO:0043657 host cell IEA --
GO:0044611 nuclear pore inner ring IBA 21873635
genes like me logo Genes that share ontologies with NUP188: view

Pathways & Interactions for NUP188 Gene

PathCards logo

SuperPathways for NUP188 Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with NUP188: view

Pathways by source for NUP188 Gene

Gene Ontology (GO) - Biological Process for NUP188 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006110 regulation of glycolytic process TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006606 protein import into nucleus IBA 21873635
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with NUP188: view

No data available for SIGNOR curated interactions for NUP188 Gene

Drugs & Compounds for NUP188 Gene

No Compound Related Data Available

Transcripts for NUP188 Gene

mRNA/cDNA for NUP188 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NUP188 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44
SP1: - - - -
SP2: - - -
SP3:
SP4:
SP5: - -
SP6:
SP7:

Relevant External Links for NUP188 Gene

GeneLoc Exon Structure for
NUP188

Expression for NUP188 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP188 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUP188 Gene

This gene is overexpressed in Synovial fluid (15.2) and Cerebrospinal fluid (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP188 Gene



Protein tissue co-expression partners for NUP188 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP188

SOURCE GeneReport for Unigene cluster for NUP188 Gene:

Hs.308340

Evidence on tissue expression from TISSUES for NUP188 Gene

  • Bone marrow(4.2)
  • Liver(4.2)
  • Nervous system(3.3)
  • Skin(2.8)
genes like me logo Genes that share expression patterns with NUP188: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP188 Gene

Orthologs for NUP188 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUP188 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUP188 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 96 (a)
OneToMany
NUP188 30
  • 90.78 (n)
cow
(Bos Taurus)
Mammalia -- 31
  • 96 (a)
OneToMany
NUP188 30
  • 90.24 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 92 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 92 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Nup188 17 31 30
  • 87.57 (n)
rat
(Rattus norvegicus)
Mammalia Nup188 30
  • 87.38 (n)
chicken
(Gallus gallus)
Aves NUP188 31 30
  • 76.59 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nup188 30
  • 69.72 (n)
Str.4929 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.20942 30
zebrafish
(Danio rerio)
Actinopterygii nup188 31 30
  • 68.2 (n)
OneToMany
wufk95d02 30
fruit fly
(Drosophila melanogaster)
Insecta CG8771 31
  • 19 (a)
OneToMany
Species where no ortholog for NUP188 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NUP188 Gene

ENSEMBL:
Gene Tree for NUP188 (if available)
TreeFam:
Gene Tree for NUP188 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUP188: view image

Paralogs for NUP188 Gene

Paralogs for NUP188 Gene

genes like me logo Genes that share paralogs with NUP188: view

Variants for NUP188 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP188 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
673511 Likely Benign: not provided 128,947,907(+) A/G INTRON_VARIANT
676304 Benign: not provided 128,947,846(+) A/G INTRON_VARIANT
680441 Likely Benign: not provided 128,949,243(+) G/A SYNONYMOUS_VARIANT
710211 Benign: not provided 129,005,527(+) T/G MISSENSE_VARIANT
716555 Benign: not provided 128,973,216(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NUP188 Gene

Structural Variations from Database of Genomic Variants (DGV) for NUP188 Gene

Variant ID Type Subtype PubMed ID
esv2739079 CNV deletion 23290073
nsv1115234 CNV deletion 24896259
nsv509323 CNV insertion 20534489
nsv831729 CNV loss 17160897

Variation tolerance for NUP188 Gene

Residual Variation Intolerance Score: 4.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.41; 63.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUP188 Gene

Human Gene Mutation Database (HGMD)
NUP188
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP188

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP188 Gene

Disorders for NUP188 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NUP188 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
heart disease
  • congenital heart disease
renpenning syndrome 1
  • rens1
dextro-looped transposition of the great arteries
  • transposition of the great arteries, dextro-looped 1
familial atrial fibrillation
  • atrial fibrillation, familial, 1
primary ciliary dyskinesia
  • pcd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NU188_HUMAN
  • Note=Copy number variations of NUP188 gene may be a cause of heterotaxy, a congenital heart disease resulting from abnormalities in left-right (LR) body patterning. {ECO:0000269 PubMed:21282601}.

Additional Disease Information for NUP188

genes like me logo Genes that share disorders with NUP188: view

No data available for Genatlas for NUP188 Gene

Publications for NUP188 Gene

  1. Identification of a new vertebrate nucleoporin, Nup188, with the use of a novel organelle trap assay. (PMID: 11029043) Miller BR … Forbes DJ (Molecular biology of the cell 2000) 2 3 4 54
  2. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8724849) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 3 4 54
  3. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54
  5. Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS. (PMID: 29478914) Yamauchi T … Maeda T (Cancer cell 2018) 3 54

Products for NUP188 Gene