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Aliases for NUP107 Gene

Aliases for NUP107 Gene

  • Nucleoporin 107 2 3 5
  • Nucleoporin 107kDa 2 3
  • Nuclear Pore Complex Protein Nup107 3
  • 107 KDa Nucleoporin 4
  • Nucleoporin Nup107 4
  • NPHS11 3
  • NUP84 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 Nephrotic Syndrome, Type 11 and Ovarian Dysgenesis 1. Among its related pathways are Transport of the SLBP independent Mature mRNA and Cell Cycle, Mitotic. GO annotations related to this gene include nucleocytoplasmic transporter activity and structural constituent of nuclear pore.

UniProtKB/Swiss-Prot for NUP107 Gene

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

Gene Wiki entry for NUP107 Gene

Additional gene information for NUP107 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUP107 Gene

Genomics for NUP107 Gene

Regulatory Elements for NUP107 Gene

Enhancers for NUP107 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H068803 1.7 FANTOM5 Ensembl ENCODE 53.1 +120.0 119968 7 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 NUP107 CPSF6 KRT8P39 RAP1B RPL10P12 C1GALT1P1 RPL7P42 ENSG00000258140 ENSG00000256273 MDM2
GH12H068609 2 FANTOM5 Ensembl ENCODE dbSUPER 39.9 -74.1 -74064 6 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 NUP107 RAP1B CPSF6 MDM2 KRT8P39 CPM LINC02384 MDM1 RPL10P12 IFNG
GH12H068685 1.2 ENCODE 47.7 +0.1 96 3 FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 NUP107 CPSF6 LOC100507250
GH12H068361 2 FANTOM5 Ensembl ENCODE dbSUPER 27.3 -321.4 -321396 7 HDGF FOXA2 PKNOX1 ARID4B SIN3A YY1 ZNF143 FOS SP3 ZC3H11A NUP107 MDM1 LINC02384 RPL10P12 SNORA70G CPSF6 KRT8P39 RPL7P42 LOC100507250 RAP1B
GH12H068331 1.5 Ensembl ENCODE dbSUPER 30.8 -353.7 -353715 3 HDGF PKNOX1 ATF1 ARID4B SIN3A YY1 GLIS2 ELK1 ZNF143 ZNF207 NUP107 MDM1 CPSF6 DYRK2 ENSG00000256273 LINC02421 PIR51506 GC12P068332
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NUP107 on UCSC Golden Path with GeneCards custom track

Promoters for NUP107 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000053655 266 1601 FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5

Genomic Location for NUP107 Gene

Chromosome:
12
Start:
68,686,734 bp from pter
End:
68,745,809 bp from pter
Size:
59,076 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). Does not interact with TPR (PubMed:12802065).

    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 Lys305, Lys332, Lys348, posLast=382382, Lys408, posLast=637637, posLast=690690, and posLast=773773
  • Modification sites at PhosphoSitePlus

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):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for NUP107 Gene

Suggested Antigen Peptide Sequences for NUP107 Gene

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). Required for the assembly of peripheral proteins into the NPC (PubMed:15229283, PubMed:12552102). May anchor NUP62 to the NPC (PubMed:15229283).

Phenotypes From GWAS Catalog for NUP107 Gene

Gene Ontology (GO) - Molecular Function for NUP107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005487 nucleocytoplasmic transporter activity IDA 11684705
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

miRTarBase miRNAs that target NUP107

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NUP107
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for NUP107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 colocalizes_with kinetochore IDA,IEA 17363900
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore IDA 11564755
genes like me logo Genes that share ontologies with NUP107: view

Pathways & Interactions for NUP107 Gene

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 --
GO:0006110 regulation of glycolytic process TAS --
GO:0006355 regulation of transcription, DNA-templated IBA --
GO:0006406 mRNA export from nucleus 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

Unigene Clusters for NUP107 Gene

Nucleoporin 107kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NUP107
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
NUP107

Expression for NUP107 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NUP107 Gene



Protein tissue co-expression partners for NUP107 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUP107 Gene:

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(4.2)
genes like me logo Genes that share expression patterns with NUP107: view

Primer Products

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 33 34
  • 99.21 (n)
cow
(Bos Taurus)
Mammalia NUP107 33 34
  • 91.85 (n)
dog
(Canis familiaris)
Mammalia NUP107 33 34
  • 91.16 (n)
rat
(Rattus norvegicus)
Mammalia Nup107 33
  • 85.03 (n)
mouse
(Mus musculus)
Mammalia Nup107 33 16 34
  • 84.81 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia NUP107 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUP107 33 34
  • 76.19 (n)
lizard
(Anolis carolinensis)
Reptilia NUP107 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nup107 33
  • 71.25 (n)
Str.7316 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16196 33
zebrafish
(Danio rerio)
Actinopterygii nup107 33 34
  • 65.89 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4383 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001685 33
  • 44.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nup107 33 34
  • 43.09 (n)
BcDNA:LD18761 35
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NUP84 34 36
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToMany
-- 34
  • 38 (a)
OneToMany
Species where no ortholog for NUP107 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)
  • 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 NUP107 Gene

ENSEMBL:
Gene Tree for NUP107 (if available)
TreeFam:
Gene Tree for NUP107 (if available)

Paralogs for NUP107 Gene

No data available for Paralogs for NUP107 Gene

Variants for NUP107 Gene

Sequence variations from dbSNP and Humsavar for NUP107 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs864321632 Pathogenic, Nephrotic syndrome 11 (NPHS11) [MIM:616730] 68,735,334(+) GGTGG(A/C)TGTTA reference, missense
rs864321633 Pathogenic, Nephrotic syndrome 11 (NPHS11) [MIM:616730] 68,696,839(+) TTTCT(G/T)ATTTC reference, missense
VAR_078571 Ovarian dysgenesis 1 (ODG1) [MIM:233300]
rs864321687 Pathogenic 68,715,736(+) GACAG(-/AAGAG)GTCAG reference, frameshift-variant
rs864321688 Pathogenic 68,713,809(+) AATTG(A/G)TAAAT splice-donor-variant

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)

Relevant External Links 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

(6) MalaCards diseases for NUP107 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 11
  • nephrotic syndrome type 11
ovarian dysgenesis 1
  • premature ovarian failure, autosomal recessive
glomerulosclerosis, focal segmental, 1
  • focal segmental glomerulosclerosis 1
46xx sex reversal 1
  • 46,xx testicular disorder of sex development
nephrotic syndrome
  • finnish congenital nephrosis
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ovarian dysgenesis 1 (ODG1) [MIM:233300]: An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). {ECO:0000269 PubMed:26485283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NUP107

Genetic Association Database (GAD)
NUP107
Human Genome Epidemiology (HuGE) Navigator
NUP107
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NUP107
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 22 60
  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 60
  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 22 60
  4. Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. (PMID: 26411495) Miyake N … Matsumoto N (American journal of human genetics 2015) 3 4 60
  5. A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. (PMID: 26485283) Weinberg-Shukron A … Zangen D (The Journal of clinical investigation 2015) 3 4 60

Products for NUP107 Gene

Sources for NUP107 Gene

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