This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseud... See more...

Aliases for NUP35 Gene

Aliases for NUP35 Gene

  • Nucleoporin 35 2 3 5
  • Mitotic Phosphoprotein 44 2 3 4
  • MP44 2 3 4
  • Nuclear Pore Complex Protein Nup53 3 4
  • Nucleoporin 35kDa 2 3
  • Nucleoporin NUP35 3 4
  • Nucleoporin NUP53 3 4
  • MP-44 3 4
  • NUP53 3 4
  • 35 KDa Nucleoporin 4
  • NUP35 5
  • NP44 3

External Ids for NUP35 Gene

Previous GeneCards Identifiers for NUP35 Gene

  • GC02P184192
  • GC02P183814
  • GC02P183697
  • GC02P183982
  • GC02P175847

Summaries for NUP35 Gene

Entrez Gene Summary for NUP35 Gene

  • This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013]

GeneCards Summary for NUP35 Gene

NUP35 (Nucleoporin 35) is a Protein Coding gene. Diseases associated with NUP35 include Seminal Vesicle Tumor and Lethal Congenital Contracture Syndrome 1. Among its related pathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA.

UniProtKB/Swiss-Prot Summary for NUP35 Gene

  • Functions as a component of the nuclear pore complex (NPC). NPC components, collectively referred to as nucleoporins (NUPs), can play the role of both NPC structural components and of docking or interaction partners for transiently associated nuclear transport factors. May play a role in the association of MAD1 with the NPC.

Gene Wiki entry for NUP35 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP35 Gene

Genomics for NUP35 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NUP35 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
GH02J183123 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 273.3 +7.4 7421 3.4 BCLAF1 ZNF207 IKZF1 ZNF600 MYC SIX5 ZNF580 ZNF592 KLF9 POLR2A NUP35 DUSP19 ENSG00000272800 lnc-DUSP19-1 ENSG00000224643
GH02J183117 Promoter 0.6 EPDnew 250.7 +0.0 15 0.1 FOXA2 FOSL2 ATF2 CREB1 NUP35 lnc-DUSP19-1 ENSG00000224643
GH02J183118 Enhancer 0.5 Ensembl 250.7 +1.7 1721 0.8 NFIC MCM7 MCM3 MCM5 MCM2 NUP35 lnc-DUSP19-1 ENSG00000224643
GH02J183034 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 26.3 -80.3 -80284 4.8 BCLAF1 IKZF1 MYC ZNF600 ZNF592 YY1 MXD4 NONO BCL11A CTCF NCKAP1 NUP35 DNAJC10 FRZB ENSG00000202141
GH02J183078 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 -38.4 -38443 2.3 SP1 ZNF207 IKZF1 NCOR1 ZNF600 ZNF592 POLR2A ZNF10 NFIC YY1 DUSP19 NCKAP1 NUP35 ENSG00000224643 FRZB HSALNG0020854
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUP35 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP35

Top Transcription factor binding sites by QIAGEN in the NUP35 gene promoter:
  • AML1a
  • FOXL1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • SRY

Genomic Locations for NUP35 Gene

Latest Assembly
chr2:183,117,480-183,161,680
(GRCh38/hg38)
Size:
44,201 bases
Orientation:
Plus strand

Previous Assembly
chr2:183,982,242-184,026,408
(GRCh37/hg19 by Entrez Gene)
Size:
44,167 bases
Orientation:
Plus strand

chr2:183,982,241-184,026,408
(GRCh37/hg19 by Ensembl)
Size:
44,168 bases
Orientation:
Plus strand

Genomic View for NUP35 Gene

Genes around NUP35 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP35 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP35 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP35 Gene

Proteins for NUP35 Gene

  • Protein details for NUP35 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFH5-NUP35_HUMAN
    Recommended name:
    Nucleoporin NUP35
    Protein Accession:
    Q8NFH5
    Secondary Accessions:
    • B4DP57
    • B4DYB4
    • Q4ZFZ9
    • Q53S95
    • Q8TDJ1

    Protein attributes for NUP35 Gene

    Size:
    326 amino acids
    Molecular mass:
    34774 Da
    Quaternary structure:
    • Interacts with TMEM48/NDC1. Forms a complex with NUP93, NUP155, NUP205 and lamin B; the interaction with NUP93 is direct.

    Three dimensional structures from OCA and Proteopedia for NUP35 Gene

    Alternative splice isoforms for NUP35 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUP35 Gene

Post-translational modifications for NUP35 Gene

  • Ubiquitination at Lys269 and Lys294
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NUP35 Gene

Domains & Families for NUP35 Gene

Gene Families for NUP35 Gene

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

Protein Domains for NUP35 Gene

Suggested Antigen Peptide Sequences for NUP35 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60753, highly similar to Nucleoporin NUP53 (B4DP57_HUMAN)
  • cDNA FLJ57668, highly similar to Nucleoporin NUP53 (B4DYB4_HUMAN)
  • Nucleoporin Nup35 (NUP53_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NFH5

UniProtKB/Swiss-Prot:

NUP35_HUMAN :
  • Belongs to the Nup35 family.
Family:
  • Belongs to the Nup35 family.
genes like me logo Genes that share domains with NUP35: view

Function for NUP35 Gene

Molecular function for NUP35 Gene

UniProtKB/Swiss-Prot Function:
Functions as a component of the nuclear pore complex (NPC). NPC components, collectively referred to as nucleoporins (NUPs), can play the role of both NPC structural components and of docking or interaction partners for transiently associated nuclear transport factors. May play a role in the association of MAD1 with the NPC.

Phenotypes From GWAS Catalog for NUP35 Gene

Gene Ontology (GO) - Molecular Function for NUP35 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003697 single-stranded DNA binding IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0005543 phospholipid binding IBA 21873635
GO:0017056 structural constituent of nuclear pore IBA 21873635
genes like me logo Genes that share ontologies with NUP35: view
genes like me logo Genes that share phenotypes with NUP35: view

Animal Models for NUP35 Gene

MGI Knock Outs for NUP35:
  • Nup35 Nup35<tm1b(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP35

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NUP35 Gene

Localization for NUP35 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP35 Gene

Nucleus, nuclear pore complex. Nucleus membrane. Peripheral membrane protein. Note=Tightly associated with the nuclear membrane and lamina. {ECO:0000269 PubMed:15703211}.

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 NUP35 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytoskeleton 3
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoplasm (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUP35 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore IEA --
GO:0005652 nuclear lamina IEA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with NUP35: view

Pathways & Interactions for NUP35 Gene

PathCards logo

SuperPathways for NUP35 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 NUP35: view

Gene Ontology (GO) - Biological Process for NUP35 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006110 regulation of glycolytic process TAS --
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006607 NLS-bearing protein import into nucleus IBA 21873635
genes like me logo Genes that share ontologies with NUP35: view

No data available for SIGNOR curated interactions for NUP35 Gene

Drugs & Compounds for NUP35 Gene

No Compound Related Data Available

Transcripts for NUP35 Gene

mRNA/cDNA for NUP35 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP35

Alternative Splicing Database (ASD) splice patterns (SP) for NUP35 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: - - -
SP2: - - - - -
SP3: - - - -
SP4: - -
SP5: - - - - - - -
SP6: -
SP7:

Relevant External Links for NUP35 Gene

GeneLoc Exon Structure for
NUP35

Expression for NUP35 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP35 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUP35 Gene

This gene is overexpressed in Testis (10.4), Peripheral blood mononuclear cells (9.8), and Liver (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP35 Gene



Protein tissue co-expression partners for NUP35 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP35

SOURCE GeneReport for Unigene cluster for NUP35 Gene:

Hs.180591

Evidence on tissue expression from TISSUES for NUP35 Gene

  • Skin(4.4)
  • Liver(4.3)
  • Bone marrow(4.1)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with NUP35: 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 NUP35 Gene

Orthologs for NUP35 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUP35 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NUP35 29 30
  • 99.8 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NUP35 29 30
  • 94.61 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gm4353 30
  • 93 (a)
OneToMany
Nup35 29 16 30
  • 88.31 (n)
OneToMany
Cow
(Bos Taurus)
Mammalia NUP35 29 30
  • 92.84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NUP35 30
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nup35 29
  • 89.23 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 86 (a)
OneToMany
-- 30
  • 84 (a)
OneToMany
Chicken
(Gallus gallus)
Aves NUP35 29 30
  • 77.06 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NUP35 30
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nup35 29
  • 74.32 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64281 29
Zebrafish
(Danio rerio)
Actinopterygii nup35 29 30
  • 70.43 (n)
OneToOne
wufj68d11 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG6540 29 30
  • 40.37 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008619 29
  • 39.96 (n)
Worm
(Caenorhabditis elegans)
Secernentea npp-19 30
  • 20 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10509 30
  • 42 (a)
OneToOne
Species where no ortholog for NUP35 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)
  • 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 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)

Evolution for NUP35 Gene

ENSEMBL:
Gene Tree for NUP35 (if available)
TreeFam:
Gene Tree for NUP35 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUP35: view image
Alliance of Genome Resources:
Additional Orthologs for NUP35

Paralogs for NUP35 Gene

Pseudogenes.org Pseudogenes for NUP35 Gene

genes like me logo Genes that share paralogs with NUP35: view

No data available for Paralogs for NUP35 Gene

Variants for NUP35 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NUP35 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NUP35 Gene

Variant ID Type Subtype PubMed ID
esv2668397 CNV deletion 23128226
esv26746 CNV loss 19812545
esv2763287 CNV gain+loss 21179565
esv3593580 CNV gain 21293372
esv3593582 CNV loss 21293372
esv3593583 CNV loss 21293372
esv3893517 CNV gain+loss 25118596
nsv1009882 CNV gain 25217958
nsv1109318 CNV deletion 24896259
nsv1138873 CNV deletion 24896259

Variation tolerance for NUP35 Gene

Residual Variation Intolerance Score: 30.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUP35 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP35
Leiden Open Variation Database (LOVD)
NUP35

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP35 Gene

Disorders for NUP35 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NUP35 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search NUP35 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NUP35

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NUP35: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NUP35 Gene

Publications for NUP35 Gene

  1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  2. The conserved transmembrane nucleoporin NDC1 is required for nuclear pore complex assembly in vertebrate cells. (PMID: 16600873) Mansfeld J … Antonin W (Molecular cell 2006) 3 4
  3. Vertebrate Nup53 interacts with the nuclear lamina and is required for the assembly of a Nup93-containing complex. (PMID: 15703211) Hawryluk-Gara LA … Wozniak RW (Molecular biology of the cell 2005) 3 4
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  5. 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

Products for NUP35 Gene

Sources for NUP35 Gene