Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008] See more...

Aliases for NUP43 Gene

Aliases for NUP43 Gene

  • Nucleoporin 43 2 3 5
  • Nup107-160 Subcomplex Subunit Nup43 3 4
  • Nucleoporin Nup43 3 4
  • Nucleoporin 43kDa 2 3
  • P42 3 4
  • BA350J20.1 3

External Ids for NUP43 Gene

Previous GeneCards Identifiers for NUP43 Gene

  • GC06M150000
  • GC06M150078
  • GC06M150076
  • GC06M150137
  • GC06M150087
  • GC06M147611
  • GC06M150045

Summaries for NUP43 Gene

Entrez Gene Summary for NUP43 Gene

  • Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008]

GeneCards Summary for NUP43 Gene

NUP43 (Nucleoporin 43) is a Protein Coding gene. Diseases associated with NUP43 include Fanconi Anemia, Complementation Group L and Familial Atrial Fibrillation. Among its related pathways are Metabolism of proteins and Mitotic Metaphase and Anaphase.

UniProtKB/Swiss-Prot Summary for NUP43 Gene

  • Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.

Gene Wiki entry for NUP43 Gene

Additional gene information for NUP43 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP43 Gene

Genomics for NUP43 Gene

GeneHancer (GH) Regulatory Elements for NUP43 Gene

Promoters and enhancers for NUP43 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 NUP43 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP43

Genomic Locations for NUP43 Gene

Genomic Locations for NUP43 Gene
chr6:149,724,315-149,749,665
(GRCh38/hg38)
Size:
25,351 bases
Orientation:
Minus strand
chr6:150,045,451-150,070,801
(GRCh37/hg19)
Size:
25,351 bases
Orientation:
Minus strand

Genomic View for NUP43 Gene

Genes around NUP43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP43 Gene

Proteins for NUP43 Gene

  • Protein details for NUP43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFH3-NUP43_HUMAN
    Recommended name:
    Nucleoporin Nup43
    Protein Accession:
    Q8NFH3
    Secondary Accessions:
    • B4E2F0
    • Q9H8S0

    Protein attributes for NUP43 Gene

    Size:
    380 amino acids
    Molecular mass:
    42151 Da
    Quaternary structure:
    • Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex includes NUP160, NUP133, NUP107, NUP98, NUP85, NUP43, NUP37, SEH1 and SEC13.
    SequenceCaution:
    • Sequence=BAB14536.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUP43 Gene

    Alternative splice isoforms for NUP43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUP43 Gene

Post-translational modifications for NUP43 Gene

  • Ubiquitination at Lys7 and Lys196
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NUP43 Gene

Domains & Families for NUP43 Gene

Gene Families for NUP43 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for NUP43 Gene

Suggested Antigen Peptide Sequences for NUP43 Gene

GenScript: Design optimal peptide antigens:
  • NUP43 protein (A0PJK4_HUMAN)
  • cDNA FLJ54281, highly similar to Nucleoporin Nup43 (B4DVD1_HUMAN)
  • cDNA FLJ53749, moderately similar to Nucleoporin Nup43 (B4E2F0_HUMAN)
  • cDNA FLJ61080, highly similar to Nucleoporin Nup43 (B4E301_HUMAN)
  • p42 (NUP43_HUMAN)
genes like me logo Genes that share domains with NUP43: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NUP43 Gene

Function for NUP43 Gene

Molecular function for NUP43 Gene

UniProtKB/Swiss-Prot Function:
Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.

Phenotypes From GWAS Catalog for NUP43 Gene

Gene Ontology (GO) - Molecular Function for NUP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 15146057
genes like me logo Genes that share ontologies with NUP43: view
genes like me logo Genes that share phenotypes with NUP43: view

Animal Model Products

CRISPR Products

miRNA for NUP43 Gene

miRTarBase miRNAs that target NUP43

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP43

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NUP43 Gene

Localization for NUP43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP43 Gene

Chromosome, centromere, kinetochore. 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 NUP43 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NUP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 colocalizes_with kinetochore IEA,IDA 15146057
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore IEA --
genes like me logo Genes that share ontologies with NUP43: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NUP43 Gene

Pathways & Interactions for NUP43 Gene

PathCards logo

SuperPathways for NUP43 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 NUP43: view

Pathways by source for NUP43 Gene

Gene Ontology (GO) - Biological Process for NUP43 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:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA --
genes like me logo Genes that share ontologies with NUP43: view

No data available for SIGNOR curated interactions for NUP43 Gene

Drugs & Compounds for NUP43 Gene

No Compound Related Data Available

Transcripts for NUP43 Gene

mRNA/cDNA for NUP43 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP43

Alternative Splicing Database (ASD) splice patterns (SP) for NUP43 Gene

No ASD Table

Relevant External Links for NUP43 Gene

GeneLoc Exon Structure for
NUP43

Expression for NUP43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP43 Gene

Protein differential expression in normal tissues from HIPED for NUP43 Gene

This gene is overexpressed in Breast (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP43 Gene



Protein tissue co-expression partners for NUP43 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP43

SOURCE GeneReport for Unigene cluster for NUP43 Gene:

Hs.510375

Evidence on tissue expression from TISSUES for NUP43 Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with NUP43: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP43 Gene

Orthologs for NUP43 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUP43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUP43 31 30
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NUP43 31 30
  • 92.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NUP43 31 30
  • 91.05 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 89 (a)
OneToMany
-- 31
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nup43 30
  • 88.83 (n)
mouse
(Mus musculus)
Mammalia Nup43 17 31 30
  • 88.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NUP43 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUP43 31 30
  • 75.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUP43 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nup43 30
  • 68.72 (n)
Str.1191 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25711 30
zebrafish
(Danio rerio)
Actinopterygii nup43 31 30
  • 62.07 (n)
OneToOne
Dr.16507 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9079 30
fruit fly
(Drosophila melanogaster)
Insecta Nup43 31 30
  • 44.41 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000480 30
  • 38.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToOne
Species where no ortholog for NUP43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 NUP43 Gene

ENSEMBL:
Gene Tree for NUP43 (if available)
TreeFam:
Gene Tree for NUP43 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUP43: view image

Paralogs for NUP43 Gene

Pseudogenes.org Pseudogenes for NUP43 Gene

genes like me logo Genes that share paralogs with NUP43: view

No data available for Paralogs for NUP43 Gene

Variants for NUP43 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP43 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
768113 Benign: not provided 149,745,990(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
778010 Benign: not provided 149,731,629(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NUP43 Gene

Structural Variations from Database of Genomic Variants (DGV) for NUP43 Gene

Variant ID Type Subtype PubMed ID
esv2732861 CNV deletion 23290073
esv3611213 CNV loss 21293372
esv3611214 CNV loss 21293372
nsv436520 CNV deletion 17901297

Variation tolerance for NUP43 Gene

Residual Variation Intolerance Score: 42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.40; 54.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUP43 Gene

Human Gene Mutation Database (HGMD)
NUP43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP43

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP43 Gene

Disorders for NUP43 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NUP43 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group l
  • fancl
familial atrial fibrillation
  • atrial fibrillation, familial, 1
autoimmune lymphoproliferative syndrome
  • css
- elite association - COSMIC cancer census association via MalaCards
Search NUP43 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NUP43

genes like me logo Genes that share disorders with NUP43: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NUP43 Gene

Publications for NUP43 Gene

  1. Proteomic analysis of the mammalian nuclear pore complex. (PMID: 12196509) Cronshaw JM … Matunis MJ (The Journal of cell biology 2002) 2 3 4 54
  2. The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions. (PMID: 17363900) Zuccolo M … Doye V (The EMBO journal 2007) 3 4 54
  3. Cell-cycle-dependent phosphorylation of the nuclear pore Nup107-160 subcomplex. (PMID: 17360435) Glavy JS … Chait BT (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for NUP43 Gene

Sources for NUP43 Gene