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This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereb... See more...
Aliases for NUP85 Gene
Aliases for NUP85 Gene
External Ids for NUP85 Gene
- HGNC: 8734
- Entrez Gene: 79902
- Ensembl: ENSG00000125450
- OMIM: 170285
- UniProtKB: Q9BW27
Previous GeneCards Identifiers for NUP85 Gene
- GC17P070716
- GC17P073201
- GC17P068611
Summaries for NUP85 Gene
-
This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
GeneCards Summary for NUP85 Gene
NUP85 (Nucleoporin 85) is a Protein Coding gene. Diseases associated with NUP85 include Nephrotic Syndrome, Type 17 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Transport of the SLBP independent Mature mRNA and Signaling by GPCR.
UniProtKB/Swiss-Prot Summary for NUP85 Gene
-
Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance (PubMed:12718872). As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to the nucleus (PubMed:12718872). The Nup107-160 complex seems to be required for spindle assembly during mitosis (PubMed:16807356). NUP85 is required for membrane clustering of CCL2-activated CCR2 (PubMed:15995708). Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade (PubMed:15995708). Involved in nephrogenesis (PubMed:30179222).
Additional gene information for NUP85 Gene
- HGNC(8734)
- Entrez Gene(79902)
- Ensembl(ENSG00000125450)
- OMIM(170285)
- UniProtKB(Q9BW27)
- Open Targets Platform(ENSG00000125450)
- Search for NUP85 at DataMed
- Search for NUP85 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP85 Gene
Genomics for NUP85 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NUP85 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 NUP85 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP85
- Top Transcription factor binding sites by QIAGEN in the NUP85 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
Genomic Locations for NUP85 Gene
Genomic Locations for NUP85 Gene
- chr17:75,205,436-75,235,759
- (GRCh38/hg38)
- Size:
- 30,324 bases
- Orientation:
- Plus strand
- chr17:73,201,597-73,231,854
- (GRCh37/hg19)
- Size:
- 30,258 bases
- Orientation:
- Plus strand
Genomic View for NUP85 Gene
Genes around NUP85 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
NUP85 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NUP85 Gene
Proteins for NUP85 Gene
-
Protein details for NUP85 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BW27-NUP85_HUMAN
- Recommended name:
- Nuclear pore complex protein Nup85
- Protein Accession:
- Q9BW27
- B4DMQ3
- B4DPW1
- Q8NDI4
- Q9H9U1
Protein attributes for NUP85 Gene
- Size:
- 656 amino acids
- Molecular mass:
- 75019 Da
- Quaternary structure:
-
- Component of the nuclear pore complex (NPC) (PubMed:12196509). Component of the NPC Nup107-160 subcomplex, consisting of at least NUP107, NUP98/Nup96, NUP160, NUP133, NUP85, NUP37, NUP43 and SEC13 (PubMed:15146057). Interacts with NUP160, NUP133 and SEC13 (PubMed:12718872, PubMed:30179222). Interacts with NUP37, NUP107 and NUP43 (PubMed:15146057). Interacts with CCR2 (PubMed:15995708).
- SequenceCaution:
-
- Sequence=CAD38749.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for NUP85 Gene
Post-translational modifications for NUP85 Gene
Other Protein References for NUP85 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Invitrogen Antibodies for NUP85 (AFLGC-Nup85)
-
Boster Bio Antibodies for NUP85
-
Santa Cruz Biotechnology (SCBT) Antibodies for NUP85
Protein Products
-
OriGene Purified Proteins for NUP85
- Search Origene for MassSpec and Protein Over-expression Lysates for NUP85
- Origene Custom Protein Services for NUP85
- antibodies-online: Show 5 available NUP85 Proteins ranked by validation data
- Compare Top NUP85 Proteins
-
Quality Products:
-
Signalway Proteins for NUP85
-
Abcam proteins for NUP85
No data available for DME Specific Peptides for NUP85 Gene
Domains & Families for NUP85 Gene
Gene Families for NUP85 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transporters
Protein Domains for NUP85 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for NUP85 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ53138, highly similar to Homo sapiens pericentrin 1 (PCNT1), mRNA (B4DMQ3_HUMAN)
- cDNA FLJ59373, highly similar to Homo sapiens pericentrin 1 (PCNT1), mRNA (B4DPW1_HUMAN)
- Pericentrin-1 (NUP85_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BW27- Family:
-
- Belongs to the nucleoporin Nup85 family.
Function for NUP85 Gene
Molecular function for NUP85 Gene
- UniProtKB/Swiss-Prot Function:
- Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance (PubMed:12718872). As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to the nucleus (PubMed:12718872). The Nup107-160 complex seems to be required for spindle assembly during mitosis (PubMed:16807356). NUP85 is required for membrane clustering of CCL2-activated CCR2 (PubMed:15995708). Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade (PubMed:15995708). Involved in nephrogenesis (PubMed:30179222).
Phenotypes From GWAS Catalog for NUP85 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15146057 |
| GO:0017056 | structural constituent of nuclear pore | IEA,IBA | 21873635 |
Phenotypes for NUP85 Gene
- MGI mutant phenotypes for NUP85:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for NUP85:
Animal Models for NUP85 Gene
- MGI Knock Outs for NUP85:
-
- Nup85 Nup85<tm1a(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NUP85 - Select products 50% OFF >
- * NUP85 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NUP85
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NUP85
-
Santa Cruz Biotechnology (SCBT) CRISPR for NUP85
miRNA for NUP85 Gene
- miRTarBase miRNAs that target NUP85
-
- hsa-miR-324-5p (MIRT043204)
- hsa-miR-665 (MIRT661798)
- hsa-miR-7160-5p (MIRT661799)
- hsa-miR-4722-5p (MIRT661800)
- hsa-miR-6884-5p (MIRT661801)
- hsa-miR-485-5p (MIRT661802)
- hsa-miR-1827 (MIRT661803)
- hsa-miR-4649-3p (MIRT661804)
- hsa-miR-4768-3p (MIRT661805)
- hsa-miR-6767-3p (MIRT661806)
- hsa-miR-4478 (MIRT661807)
- hsa-miR-4419b (MIRT661808)
- hsa-miR-3929 (MIRT661809)
- hsa-miR-940 (MIRT661810)
- hsa-miR-6893-5p (MIRT661811)
- hsa-miR-6808-5p (MIRT661812)
- hsa-miR-6077 (MIRT716273)
- hsa-miR-4312 (MIRT716274)
- hsa-miR-4763-5p (MIRT716275)
- hsa-miR-6747-3p (MIRT716276)
- hsa-miR-9500 (MIRT716277)
- hsa-miR-6822-5p (MIRT716278)
- hsa-miR-6750-5p (MIRT716279)
- hsa-miR-5584-5p (MIRT716280)
- hsa-miR-596 (MIRT716281)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NUP85
- Browse OriGene Inhibitory RNA Products For NUP85
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP85
Clone Products
- Applied Biological Materials (abm): Clones for NUP85 - Select products 50% OFF >
- * NUP85 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NUP85
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NUP85
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NUP85 Gene
Localization for NUP85 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NUP85 Gene
- Nucleus, nuclear pore complex. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cytoplasm. Nucleus membrane. Note=During mitosis, localizes to the kinetochores and spindle poles (PubMed:12718872, PubMed:16807356). Upon CCl2 stimulation translocates from the cytoplasm to the membrane and colocalizes with CCR2 at the front of migrating cells (PubMed:15995708). {ECO:0000269 PubMed:12718872, ECO:0000269 PubMed:15995708, ECO:0000269 PubMed:16807356}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 4 |
| cytosol | 4 |
| plasma membrane | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000775 | chromosome, centromeric region | IEA | -- |
| GO:0000776 | colocalizes_with kinetochore | IEA,IDA | 15146057 |
| GO:0000777 | condensed chromosome kinetochore | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005635 | nuclear envelope | TAS | -- |
Pathways & Interactions for NUP85 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of the SLBP independent Mature mRNA |
.55
|
|
| 2 | HIV Life Cycle |
.91
.65
|
.45
|
| 3 | Cell Cycle, Mitotic |
.83
|
.60
|
| 4 | Mitotic Prophase |
.57
|
|
| 5 | Influenza Viral RNA Transcription and Replication | ||
Pathways by source for NUP85 Gene
1 BioSystems pathway for NUP85 Gene
71 Reactome pathways for NUP85 Gene
1 KEGG pathway for NUP85 Gene
Interacting Proteins for NUP85 Gene
Selected Interacting proteins:
Q9BW27-NUP85_HUMAN
ENSP00000245544
for NUP85 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for NUP85
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006110 | regulation of glycolytic process | TAS | -- |
| GO:0006406 | mRNA export from nucleus | IBA,TAS | -- |
| GO:0006409 | tRNA export from nucleus | TAS | -- |
| GO:0006606 | protein import into nucleus | IBA | 21873635 |
| GO:0006913 | nucleocytoplasmic transport | IEA | -- |
No data available for SIGNOR curated interactions for NUP85 Gene
Transcripts for NUP85 Gene
mRNA/cDNA for NUP85 Gene
- 3 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000245544 2133 nts (view in UCSC)
- ENST00000449421 1287 nts (view in UCSC)
- ENST00000540768 1926 nts (view in UCSC)
- ENST00000577208 572 nts (view in UCSC)
- ENST00000577561 524 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NUP85 - Select products 50% OFF >
- * NUP85 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NUP85
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NUP85
-
Santa Cruz Biotechnology (SCBT) CRISPR for NUP85
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NUP85
- Browse OriGene Inhibitory RNA Products For NUP85
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP85
Clone Products
- Applied Biological Materials (abm): Clones for NUP85 - Select products 50% OFF >
- * NUP85 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NUP85
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NUP85
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | · | 16c | ^ | 17 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: |
| ExUns: | 18 | ^ | 19 | ^ | 20 |
|---|---|---|---|---|---|
| SP1: | |||||
| SP2: | |||||
| SP3: | |||||
| SP4: | |||||
| SP5: | |||||
| SP6: | |||||
| SP7: |
Relevant External Links for NUP85 Gene
- GeneLoc Exon Structure for
- NUP85
Expression for NUP85 Gene
This gene is overexpressed in Adrenal (9.2), Testis (8.4), and Peripheral blood mononuclear cells (7.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP85 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP85
SOURCE GeneReport for Unigene cluster for NUP85 Gene:
Hs.362817Evidence on tissue expression from TISSUES for NUP85 Gene
- Liver(4.5)
- Nervous system(4.3)
- Intestine(4.3)
- Skin(2.6)
- Blood(2.1)
- Bone marrow(2.1)
Primer Products
-
OriGene qPCR primer pairs for NUP85
-
OriGene qPCR primer pairs and template standards for NUP85
Gene Expression Assay Products
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 NUP85 Gene
Orthologs for NUP85 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NUP85 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NUP85 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NUP85 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | NUP85 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Nup85 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Nup85 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | NUP85 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | NUP85 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | NUP85 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nup85 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.14618 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | nup85 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10923 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Nup75 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012362 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | npp-2 30 31 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G32910 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os01g0746200 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for NUP85 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)
- 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)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for NUP85 Gene
- ENSEMBL:
- Gene Tree for NUP85 (if available)
- TreeFam:
- Gene Tree for NUP85 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NUP85: view image
Paralogs for NUP85 Gene
No data available for Paralogs for NUP85 Gene
Variants for NUP85 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP85 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1321552081 | Likely Pathogenic: NEPHROTIC SYNDROME, TYPE 17 | 75,234,762(+) | G/C | MISSENSE_VARIANT | |
| rs1568070817 | Pathogenic: NEPHROTIC SYNDROME, TYPE 17 | 75,213,120(+) | G/A | SPLICE_DONOR_VARIANT | |
| rs1568094661 | Uncertain Significance: NEPHROTIC SYNDROME, TYPE 17 | 75,232,884(+) | C/T | MISSENSE_VARIANT | |
| rs368572297 | Likely Pathogenic: NEPHROTIC SYNDROME, TYPE 17. Nephrotic syndrome 17 (NPHS17) [MIM:618176] | 75,235,641(+) | C/Tp.Arg645Trp | MISSENSE_VARIANT | |
| VAR_081364 | Nephrotic syndrome 17 (NPHS17) [MIM:618176] | p.Ala477Val |
Residual Variation Intolerance Score:
23.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.36;
41.89% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NUP85 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP85 Gene
Disorders for NUP85 Gene
(10) MalaCards diseases for NUP85 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nephrotic syndrome, type 17 |
|
|
| genetic steroid-resistant nephrotic syndrome |
|
|
| nephrotic syndrome |
|
|
| nemaline myopathy 1 |
|
|
| seckel syndrome 8 |
|
|
Search NUP85 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NUP85_HUMAN- Nephrotic syndrome 17 (NPHS17) [MIM:618176]: 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 that progresses to end-stage renal failure. NPHS17 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life. {ECO:0000269 PubMed:30179222}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for NUP85
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for NUP85 Gene
Publications for NUP85 Gene
- 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
- Pivotal function for cytoplasmic protein FROUNT in CCR2-mediated monocyte chemotaxis. (PMID: 15995708) Terashima Y … Matsushima K (Nature immunology 2005) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- The entire Nup107-160 complex, including three new members, is targeted as one entity to kinetochores in mitosis. (PMID: 15146057) Loïodice I … Doye V (Molecular biology of the cell 2004) 3 4
- Proteomic analysis of the mammalian nuclear pore complex. (PMID: 12196509) Cronshaw JM … Matunis MJ (The Journal of cell biology 2002) 3 4
ExternalLinks
Products for NUP85 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for NUP85
- Search Origene for MassSpec and Protein Over-expression Lysates for NUP85
- Origene Custom Protein Services for NUP85
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NUP85
- Browse OriGene Inhibitory RNA Products For NUP85
- OriGene qPCR primer pairs for NUP85
- OriGene qPCR primer pairs and template standards for NUP85
- OriGene CRISPR knockouts for NUP85
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For NUP85
- Sino Biological Human cDNA Clone for NUP85
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Abcam proteins for NUP85
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for NUP85 (AFLGC-Nup85)
- VectorBuilder Custom and pre-made DNA vectors for NUP85 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for NUP85 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for NUP85 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for NUP85 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for NUP85
- antibodies-online: Show 9 available NUP85 Antibodies ranked by validation data
- Compare Top NUP85 Antibodies
- antibodies-online: Show 24 available NUP85 Elisa Kits ranked by validation data
- Compare Top NUP85 Elisa Kits
- antibodies-online: Show 5 available NUP85 Proteins ranked by validation data
- Compare Top NUP85 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for NUP85
- Search Santa Cruz Biotechnology (SCBT) for NUP85 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for NUP85
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NUP85
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NUP85
- Search GeneCopoeia for miRNA 3'UTR Target clone products for NUP85
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP85
- Boster Bio Antibodies for NUP85
- Browse Boster Bio ELISA Kits
- Signalway Proteins for NUP85
Sources for NUP85 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20)