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Aliases for NUP188 Gene

Aliases for NUP188 Gene

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

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. Among its related pathways are Mitotic Prophase and SUMOylation. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is ENSG00000251184.

UniProtKB/Swiss-Prot for NUP188 Gene

  • May function as a component of the nuclear pore complex (NPC).

Additional gene information for NUP188 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUP188 Gene

Genomics for NUP188 Gene

GeneHancer (GH) Regulatory Elements for NUP188 Gene

Promoters and enhancers for NUP188 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I128946 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 571.3 0.0 -1 2.2 HDGF PKNOX1 CLOCK SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 NUP188 DOLK SPOUT1 LOC101929314 ENSG00000234055 SH3GLB2 GOLGA2 NAIF1 PRRX2 GLE1
GH09I129476 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE dbSUPER 70.9 +541.6 541627 26.1 CLOCK FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC NUP188 GLE1 TOR1B PKN3 ENSG00000234055 LINC00963 C9orf106 ENSG00000268707 IER5L CRAT
GH09I129605 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 52.1 +661.2 661190 5.8 CLOCK FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF548 MCM3 SP3 NTMT1 NUP188 LOC101929314 SPOUT1 FUBP3 PKN3 C9orf50 NCS1 MIGA2 USP20
GH09I128722 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 56.9 -223.3 -223310 3.7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZDHHC12 LOC100506100 NUP188 NAIF1 GLE1 ODF2 CIZ1 GOLGA2 PKN3 TBC1D13
GH09I128065 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 39.7 -880.1 -880097 4.6 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B NEUROD1 SIN3A ZBTB7B NAIF1 PIR61166 SLC25A25 ZNF79 NUP188 GLE1 ODF2 SNORA65 CIZ1 SLC25A25-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NUP188 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NUP188 gene promoter:

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)

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=Translation N-terminally shortened.; 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 isoforms=238, isoforms=2344, isoforms=2470, isoforms=2479, Lys481, isoforms=2500, Lys720, Lys812, Lys1409, isoforms=21496, isoforms=21684, and Lys1727

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:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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 --
genes like me logo Genes that share ontologies with NUP188: view
genes like me logo Genes that share phenotypes with NUP188: view

Animal Model Products

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
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

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,IDA 19946888
GO:0043657 host cell IEA --
GO:0044611 nuclear pore inner ring IBA --
genes like me logo Genes that share ontologies with NUP188: view

Pathways & Interactions for NUP188 Gene

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:0006405 RNA export from nucleus IBA --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006606 protein import into nucleus IBA --
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

Unigene Clusters for NUP188 Gene

Nucleoporin 188kDa:
Representative Sequences:

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
ECgene alternative splicing isoforms for
NUP188

Expression for NUP188 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NUP188 Gene



Protein tissue co-expression partners for NUP188 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUP188 Gene:

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 33 34
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 96 (a)
OneToMany
NUP188 33
  • 90.24 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
OneToMany
NUP188 33
  • 90.78 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 92 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Nup188 33 16 34
  • 87.57 (n)
rat
(Rattus norvegicus)
Mammalia Nup188 33
  • 87.38 (n)
chicken
(Gallus gallus)
Aves NUP188 33 34
  • 76.59 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nup188 33
  • 69.72 (n)
Str.4929 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.20942 33
zebrafish
(Danio rerio)
Actinopterygii nup188 33 34
  • 68.2 (n)
wufk95d02 33
fruit fly
(Drosophila melanogaster)
Insecta CG8771 34
  • 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)

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 from dbSNP and Humsavar for NUP188 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs113241875 likely-benign, Congenital disorder of glycosylation 128,947,738(+) G/A coding_sequence_variant, missense_variant
rs116439010 likely-benign, benign, Congenital disorder of glycosylation, not specified 128,947,352(+) T/C upstream_transcript_variant
rs137853109 pathogenic, Congenital disorder of glycosylation type 1M 128,947,009(+) A/T upstream_transcript_variant
rs137853110 pathogenic, Congenital disorder of glycosylation type 1M 128,945,982(+) T/C/G upstream_transcript_variant
rs138453255 conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Congenital disorder of glycosylation type 1M 128,946,225(+) T/C upstream_transcript_variant

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

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

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

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

Disorder Aliases PubMed IDs
heart disease
  • congenital heart disease
- 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 58
  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 58
  3. Agonist-specific Protein Interactomes of Glucocorticoid and Androgen Receptor as Revealed by Proximity Mapping. (PMID: 28611094) Lempiäinen JK … Palvimo JJ (Molecular & cellular proteomics : MCP 2017) 3 58
  4. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. (PMID: 26878725) Braun DA … Hildebrandt F (Nature genetics 2016) 3 58
  5. Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia. (PMID: 27593162) Del Viso F … Khokha MK (Developmental cell 2016) 3 58

Products for NUP188 Gene

Sources for NUP188 Gene

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