This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly chara... See more...

Aliases for NUP107 Gene

Aliases for NUP107 Gene

  • Nucleoporin 107 2 3 5
  • Nuclear Pore Complex Protein Nup107 2 3 4
  • Nucleoporin 107kDa 2 3
  • NUP84 2 3
  • 107 KDa Nucleoporin 4
  • Nucleoporin Nup107 4
  • ODG6; GAMOS7 3
  • NPHS11 3
  • NUP107 5
  • ODG6 3

External Ids for NUP107 Gene

Previous GeneCards Identifiers for NUP107 Gene

  • GC12P069331
  • GC12P068884
  • GC12P068797
  • GC12P067366
  • GC12P069080
  • GC12P066131

Summaries for NUP107 Gene

Entrez Gene Summary for NUP107 Gene

  • This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for NUP107 Gene

NUP107 (Nucleoporin 107) is a Protein Coding gene. Diseases associated with NUP107 include Ovarian Dysgenesis 6 and Nephrotic Syndrome, Type 11. Among its related pathways are Transport of the SLBP independent Mature mRNA and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include structural constituent of nuclear pore.

UniProtKB/Swiss-Prot Summary for NUP107 Gene

  • Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:15229283, PubMed:12552102). May anchor NUP62 to the NPC (PubMed:15229283). Involved in nephrogenesis (PubMed:30179222).

Gene Wiki entry for NUP107 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP107 Gene

Genomics for NUP107 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NUP107 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 NUP107 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP107

Top Transcription factor binding sites by QIAGEN in the NUP107 gene promoter:
  • AML1a
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • Elk-1
  • FOXD3
  • POU2F1
  • POU2F1a
  • STAT5A

Genomic Locations for NUP107 Gene

Genomic Locations for NUP107 Gene
chr12:68,686,951-68,745,809
(GRCh38/hg38)
Size:
58,859 bases
Orientation:
Plus strand
chr12:69,080,514-69,136,785
(GRCh37/hg19)
Size:
56,272 bases
Orientation:
Plus strand

Genomic View for NUP107 Gene

Genes around NUP107 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP107 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP107 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP107 Gene

Proteins for NUP107 Gene

  • Protein details for NUP107 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57740-NU107_HUMAN
    Recommended name:
    Nuclear pore complex protein Nup107
    Protein Accession:
    P57740
    Secondary Accessions:
    • B4DZ67
    • Q6PJE1

    Protein attributes for NUP107 Gene

    Size:
    925 amino acids
    Molecular mass:
    106374 Da
    Quaternary structure:
    • Part of the nuclear pore complex (NPC) (PubMed:11564755, PubMed:12802065, PubMed:15229283, PubMed:26411495). Forms part of the Nup160 subcomplex in the nuclear pore which is composed of NUP160, NUP133, NUP107 and Nup96; this complex plays a role in RNA export and in tethering Nup98 and NUP153 to the nucleus (PubMed:11564755, PubMed:11684705, PubMed:26411495, PubMed:30179222). Does not interact with TPR (PubMed:12802065). Interacts with ZNF106 (By similarity).

    Three dimensional structures from OCA and Proteopedia for NUP107 Gene

    Alternative splice isoforms for NUP107 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUP107 Gene

Post-translational modifications for NUP107 Gene

  • Ubiquitination at Lys85, Lys305, Lys332, Lys348, Lys382, Lys408, Lys690, Lys773, and Lys637
  • Modification sites at PhosphoSitePlus

Other Protein References for NUP107 Gene

No data available for DME Specific Peptides for NUP107 Gene

Domains & Families for NUP107 Gene

Gene Families for NUP107 Gene

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

Protein Domains for NUP107 Gene

InterPro:
Blocks:
  • Nuclear pore protein 84/107
ProtoNet:

Suggested Antigen Peptide Sequences for NUP107 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58739, highly similar to Nuclear pore complex protein Nup107 (B4DZ67_HUMAN)
  • Nucleoporin Nup107 (NU107_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P57740

UniProtKB/Swiss-Prot:

NU107_HUMAN :
  • Belongs to the nucleoporin Nup84/Nup107 family.
Family:
  • Belongs to the nucleoporin Nup84/Nup107 family.
genes like me logo Genes that share domains with NUP107: view

Function for NUP107 Gene

Molecular function for NUP107 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:15229283, PubMed:12552102). May anchor NUP62 to the NPC (PubMed:15229283). Involved in nephrogenesis (PubMed:30179222).

Phenotypes From GWAS Catalog for NUP107 Gene

Gene Ontology (GO) - Molecular Function for NUP107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11564755
GO:0017056 structural constituent of nuclear pore IMP 15229283
genes like me logo Genes that share ontologies with NUP107: view
genes like me logo Genes that share phenotypes with NUP107: view

Human Phenotype Ontology for NUP107 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for NUP107 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP107

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NUP107 Gene

Localization for NUP107 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP107 Gene

Nucleus membrane. Nucleus, nuclear pore complex. Chromosome, centromere, kinetochore. Note=Located on both the cytoplasmic and nuclear sides of the NPC core structure (PubMed:11564755). During mitosis, localizes to the kinetochores (PubMed:11564755). Dissociates from the dissasembled NPC structure late during prophase of mitosis (PubMed:11564755). {ECO:0000269 PubMed:11564755}.

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 NUP107 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Centrosome (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUP107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 colocalizes_with kinetochore IEA,IDA 17363900
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
genes like me logo Genes that share ontologies with NUP107: view

Pathways & Interactions for NUP107 Gene

PathCards logo

SuperPathways for NUP107 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 NUP107: view

Pathways by source for NUP107 Gene

1 KEGG pathway for NUP107 Gene

Gene Ontology (GO) - Biological Process for NUP107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000973 posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery IBA 21873635
GO:0006110 regulation of glycolytic process TAS --
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0006406 mRNA export from nucleus IBA,TAS --
GO:0006409 tRNA export from nucleus TAS --
genes like me logo Genes that share ontologies with NUP107: view

No data available for SIGNOR curated interactions for NUP107 Gene

Drugs & Compounds for NUP107 Gene

No Compound Related Data Available

Transcripts for NUP107 Gene

mRNA/cDNA for NUP107 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
13 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 NUP107

Alternative Splicing Database (ASD) splice patterns (SP) for NUP107 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - -
SP2: - - - - -
SP3:
SP4:
SP5: - -
SP6:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1:
SP2: - -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for NUP107 Gene

GeneLoc Exon Structure for
NUP107

Expression for NUP107 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP107 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUP107 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP107 Gene



Protein tissue co-expression partners for NUP107 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP107

SOURCE GeneReport for Unigene cluster for NUP107 Gene:

Hs.524574

mRNA Expression by UniProt/SwissProt for NUP107 Gene:

P57740-NU107_HUMAN
Tissue specificity: Ubiquitously expressed in fetal and adult tissues.

Evidence on tissue expression from TISSUES for NUP107 Gene

  • Liver(4.4)
  • Nervous system(2.6)
  • Skin(2.5)
  • Kidney(2.3)
  • Muscle(2)
genes like me logo Genes that share expression patterns with NUP107: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP107 Gene

Orthologs for NUP107 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NUP107 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NUP107 30 31
  • 99.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NUP107 30 31
  • 91.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NUP107 30 31
  • 91.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nup107 30
  • 85.03 (n)
Mouse
(Mus musculus)
Mammalia Nup107 30 17 31
  • 84.81 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 84 (a)
OneToMany
-- 31
  • 82 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia NUP107 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NUP107 30 31
  • 76.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NUP107 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nup107 30
  • 71.25 (n)
Str.7316 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16196 30
Zebrafish
(Danio rerio)
Actinopterygii nup107 30 31
  • 65.89 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4383 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001685 30
  • 44.22 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Nup107 30 31
  • 43.09 (n)
OneToOne
BcDNA:LD18761 32
  • 33 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NUP84 31 33
  • 20 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToMany
-- 31
  • 38 (a)
OneToMany
Species where no ortholog for NUP107 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 Vase (Ciona intestinalis)
  • 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 NUP107 Gene

ENSEMBL:
Gene Tree for NUP107 (if available)
TreeFam:
Gene Tree for NUP107 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUP107: view image

Paralogs for NUP107 Gene

No data available for Paralogs for NUP107 Gene

Variants for NUP107 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP107 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
709091 Benign: not provided 68,692,021(+) C/T SYNONYMOUS_VARIANT
713250 Likely Benign: not provided 68,715,748(+) A/C INTRON_VARIANT
732382 Likely Benign: not provided 68,696,866(+) T/C MISSENSE_VARIANT
734342 Conflicting Interpretations: not provided 68,689,044(+) A/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
737574 Likely Benign: not provided 68,709,259(+) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NUP107 Gene

Structural Variations from Database of Genomic Variants (DGV) for NUP107 Gene

Variant ID Type Subtype PubMed ID
esv3629855 CNV loss 21293372
esv3629856 CNV loss 21293372
nsv1138148 CNV deletion 24896259
nsv510302 OTHER sequence alteration 20534489
nsv522941 CNV gain 19592680
nsv759 CNV deletion 18451855
nsv973990 CNV duplication 23825009
nsv983345 CNV duplication 23825009

Variation tolerance for NUP107 Gene

Residual Variation Intolerance Score: 9.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUP107 Gene

Human Gene Mutation Database (HGMD)
NUP107
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP107

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP107 Gene

Disorders for NUP107 Gene

MalaCards: The human disease database

(16) MalaCards diseases for NUP107 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ovarian dysgenesis 6
  • odg6
nephrotic syndrome, type 11
  • nphs11
galloway-mowat syndrome 7
  • gamos7
galloway-mowat syndrome
  • microcephaly, hiatal hernia, and nephrotic syndrome
46,xx sex reversal 1
  • srxx1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NU107_HUMAN
  • Nephrotic syndrome 11 (NPHS11) [MIM:616730]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life. {ECO:0000269 PubMed:26411495, ECO:0000269 PubMed:30179222}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ovarian dysgenesis 6 (ODG6) [MIM:618078]: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG6 is an autosomal recessive condition. {ECO:0000269 PubMed:26485283}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Galloway-Mowat syndrome 7 (GAMOS7) [MIM:618348]: A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive. {ECO:0000269 PubMed:28117080, ECO:0000269 PubMed:28280135, ECO:0000269 PubMed:30179222}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NUP107

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NUP107: view

No data available for Genatlas for NUP107 Gene

Publications for NUP107 Gene

  1. Nucleoporins as components of the nuclear pore complex core structure and Tpr as the architectural element of the nuclear basket. (PMID: 15229283) Krull S … Cordes VC (Molecular biology of the cell 2004) 3 4 23
  2. Depletion of a single nucleoporin, Nup107, prevents the assembly of a subset of nucleoporins into the nuclear pore complex. (PMID: 12552102) Boehmer T … Zhong H (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4
  3. Novel vertebrate nucleoporins Nup133 and Nup160 play a role in mRNA export. (PMID: 11684705) Vasu S … Forbes DJ (The Journal of cell biology 2001) 3 4 23
  4. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. (PMID: 30179222) Braun DA … Hildebrandt F (The Journal of clinical investigation 2018) 3 4
  5. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. (PMID: 28280135) Rosti RO … Gleeson JG (Journal of medical genetics 2017) 3 4

Products for NUP107 Gene

Sources for NUP107 Gene