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

  • Nucleoporin 85 2 3 5
  • Nuclear Pore Complex Protein Nup85 3 4
  • Nucleoporin Nup75 3 4
  • Nucleoporin Nup85 3 4
  • Nucleoporin 85kDa 2 3
  • FROUNT 3 4
  • 85 KDa Nucleoporin 4
  • Pericentrin-1 4
  • NPHS17 3
  • Nup75 3
  • NUP75 4
  • PCNT1 4

External Ids for NUP85 Gene

Previous GeneCards Identifiers for NUP85 Gene

  • GC17P070716
  • GC17P073201
  • GC17P068611

Summaries for NUP85 Gene

Entrez Gene Summary 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 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis. Among its related pathways are Cellular Senescence (REACTOME) and Transport of Mature Transcript to Cytoplasm.

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).

Gene Wiki entry for NUP85 Gene

Additional gene information for NUP85 Gene

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 for NUP85 Gene

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 UCSC Golden Path with GeneCards custom track

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
chr17:75,205,450-75,235,759
(GRCh38/hg38)
Size:
30,310 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:
NUP85 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP85 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUP85 Gene

    Alternative splice isoforms for NUP85 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUP85 Gene

Post-translational modifications for NUP85 Gene

  • Ubiquitination at Lys59, Lys70, Lys92, Lys124, Lys449, Lys494, Lys540, and Lys631
  • Modification sites at PhosphoSitePlus

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
  • Predicted secreted 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

UniProtKB/Swiss-Prot:

NUP85_HUMAN :
  • Belongs to the nucleoporin Nup85 family.
Family:
  • Belongs to the nucleoporin Nup85 family.
genes like me logo Genes that share domains with NUP85: view

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

Gene Ontology (GO) - Molecular Function for NUP85 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15146057
GO:0017056 structural constituent of nuclear pore IBA,IEA 21873635
genes like me logo Genes that share ontologies with NUP85: view
genes like me logo Genes that share phenotypes with NUP85: view

Human Phenotype Ontology for NUP85 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NUP85 Gene

MGI Knock Outs for NUP85:
  • Nup85 Nup85<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP85

Clone Products

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}.

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 NUP85 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 3
plasma membrane 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUP85 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,IDA --
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore IEA --
genes like me logo Genes that share ontologies with NUP85: view

Pathways & Interactions for NUP85 Gene

PathCards logo

SuperPathways for NUP85 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 NUP85: view

Pathways by source for NUP85 Gene

Gene Ontology (GO) - Biological Process for NUP85 Gene

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 --
genes like me logo Genes that share ontologies with NUP85: view

No data available for SIGNOR curated interactions for NUP85 Gene

Drugs & Compounds for NUP85 Gene

No Compound Related Data Available

Transcripts for NUP85 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP85

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NUP85 Gene

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
ECgene alternative splicing isoforms for
NUP85

Expression for NUP85 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NUP85 Gene

Protein differential expression in normal tissues from HIPED 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



Protein tissue co-expression partners for NUP85 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUP85 Gene:

NUP85

SOURCE GeneReport for Unigene cluster for NUP85 Gene:

Hs.362817

Evidence on tissue expression from TISSUES for NUP85 Gene

  • Liver(4.4)
  • Intestine(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with NUP85: 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 NUP85 Gene

Orthologs for NUP85 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NUP85 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUP85 33 32
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NUP85 33 32
  • 89.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NUP85 33 32
  • 88.36 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NUP85 33
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nup85 32
  • 86.69 (n)
mouse
(Mus musculus)
Mammalia Nup85 17 33 32
  • 86.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NUP85 33
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUP85 33 32
  • 72.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUP85 33
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nup85 32
  • 68.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14618 32
zebrafish
(Danio rerio)
Actinopterygii nup85 33 32
  • 66.98 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10923 32
fruit fly
(Drosophila melanogaster)
Insecta Nup75 33 32
  • 45.92 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012362 32
  • 45.82 (n)
worm
(Caenorhabditis elegans)
Secernentea npp-2 33 32
  • 37.56 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G32910 32
  • 42.5 (n)
rice
(Oryza sativa)
Liliopsida Os01g0746200 32
  • 40.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 40 (a)
OneToOne
Species where no ortholog for NUP85 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 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)
  • 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 from dbSNP and Humsavar for NUP85 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1321552081 likely-pathogenic, NEPHROTIC SYNDROME, TYPE 17 75,234,762(+) G/A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_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 coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs368572297 likely-pathogenic, NEPHROTIC SYNDROME, TYPE 17, Nephrotic syndrome 17 (NPHS17) [MIM:618176] 75,235,641(+) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
VAR_081364 Nephrotic syndrome 17 (NPHS17) [MIM:618176] p.Ala477Val

Structural Variations from Database of Genomic Variants (DGV) for NUP85 Gene

Variant ID Type Subtype PubMed ID
esv2716236 CNV deletion 23290073
nsv470602 CNV loss 18288195
nsv960528 CNV duplication 23825009

Variation tolerance for NUP85 Gene

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

Human Gene Mutation Database (HGMD)
NUP85
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP85

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP85 Gene

Disorders for NUP85 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NUP85 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 17
  • nphs17
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
nephrotic syndrome
  • finnish congenital nephrotic syndrome
end stage renal failure
  • end stage renal disease
- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with NUP85: view

No data available for Genatlas for NUP85 Gene

Publications for NUP85 Gene

  1. 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 56
  2. Pivotal function for cytoplasmic protein FROUNT in CCR2-mediated monocyte chemotaxis. (PMID: 15995708) Terashima Y … Matsushima K (Nature immunology 2005) 3 4 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  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 56
  5. Proteomic analysis of the mammalian nuclear pore complex. (PMID: 12196509) Cronshaw JM … Matunis MJ (The Journal of cell biology 2002) 3 4 56

Products for NUP85 Gene

Sources for NUP85 Gene