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NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004] See more...
Aliases for NUP160 Gene
Aliases for NUP160 Gene
External Ids for NUP160 Gene
- HGNC: 18017
- NCBI Entrez Gene: 23279
- Ensembl: ENSG00000030066
- OMIM®: 607614
- UniProtKB/Swiss-Prot: Q12769
Previous GeneCards Identifiers for NUP160 Gene
- GC11M049712
- GC11M048677
- GC11M047831
- GC11M047763
- GC11M047757
- GC11M047505
- GC11M047866
- GC11M048084
- GC11M048807
- GC11M049912
- GC11M047973
- GC11M048098
- GC11M055827
- GC11M056053
- GC11M056198
- GC11M059719
- GC11M050811
- GC11M051606
- GC11M052268
- GC11M052928
- GC11M053596
- GC11M054262
- GC11M054928
- GC11M055630
- GC11M061140
Summaries for NUP160 Gene
-
NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004]
GeneCards Summary for NUP160 Gene
NUP160 (Nucleoporin 160) is a Protein Coding gene. Diseases associated with NUP160 include Nephrotic Syndrome, Type 19 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Signaling by GPCR and mRNA Splicing - Major Pathway.
UniProtKB/Swiss-Prot Summary for NUP160 Gene
-
Functions as a component of the nuclear pore complex (NPC) (PubMed:11564755, PubMed:11684705). Involved in poly(A)+ RNA transport.
Additional gene information for NUP160 Gene
- HGNC (18017)
- NCBI Entrez Gene (23279)
- Ensembl (ENSG00000030066)
- OMIM® (607614)
- UniProtKB/Swiss-Prot (Q12769)
- Open Targets Platform(ENSG00000030066)
- Search for NUP160 at DataMed
- Search for NUP160 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP160 Gene
Genomics for NUP160 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NUP160 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 NUP160 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP160
- Top Transcription factor binding sites by QIAGEN in the NUP160 gene promoter:
-
- C/EBPalpha
- Egr-1
- POU2F1
- POU2F1a
- STAT1
- STAT1beta
- STAT2
- STAT3
- USF-1
- USF1
Genomic Locations for NUP160 Gene
Latest Assembly
- chr11:47,778,083-47,848,555
- (GRCh38/hg38)
- Size:
- 70,473 bases
- Orientation:
- Minus strand
Previous Assembly
- chr11:47,799,635-47,870,096
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 70,462 bases
- Orientation:
- Minus strand
- chr11:47,799,639-47,870,107
- (GRCh37/hg19 by Ensembl)
- Size:
- 70,469 bases
- Orientation:
- Minus strand
Genomic View for NUP160 Gene
Genes around NUP160 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p11.2 by HGNC
- 11p11.2 by Entrez Gene
- 11p11.2 by Ensembl
NUP160 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 NUP160 Gene
Proteins for NUP160 Gene
-
Protein details for NUP160 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12769-NU160_HUMAN
- Recommended name:
- Nuclear pore complex protein Nup160
- Protein Accession:
- Q12769
- B4DYE8
- B4E2J9
- Q08AD3
- Q7Z5X6
- Q96GB3
- Q9H660
Protein attributes for NUP160 Gene
- Size:
- 1436 amino acids
- Molecular mass:
- 162121 Da
- Quaternary structure:
-
- Part of the nuclear pore complex (NPC) (PubMed:11564755, PubMed:11684705). Forms part of the NUP160 subcomplex in the nuclear pore which is composed of NUP160, NUP133, NUP107 and NUP96 (PubMed:11564755, PubMed:11684705). This complex plays a role in RNA export and in tethering NUP98 and NUP153 to the nucleus (PubMed:11564755, PubMed:11684705).
- SequenceCaution:
-
- Sequence=AAH09822.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA12110.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=BAB15406.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG65161.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for NUP160 Gene
Post-translational modifications for NUP160 Gene
Other Protein References for NUP160 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ NUP160 Antibody
-
Custom Antibody ServicesOriGene Antibodies for NUP160
- Novus Biologicals Antibodies for NUP160
-
Abcam antibodies for NUP160
- Invitrogen Antibodies for NUP160 (AFLGC-NUP160)
-
Biorbyt antibodies for NUP160
-
Custom Antibody ServicesProSci Antibodies for NUP160
Protein products for research
-
OriGene Purified Proteins for NUP160
- Search Origene for MassSpec and Protein Over-expression Lysates for NUP160
- Origene Custom Protein Services for NUP160
- Novus Biologicals lysates for NUP160
Assay products for research
No data available for DME Specific Peptides for NUP160 Gene
Domains & Families for NUP160 Gene
Gene Families for NUP160 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transporters
Protein Domains for NUP160 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for NUP160 Gene
- GenScript: Design optimal peptide antigens:
-
- Nucleoporin Nup160 (NU160_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NUP160 Gene
Function for NUP160 Gene
Molecular function for NUP160 Gene
- UniProtKB/Swiss-Prot Function:
- Functions as a component of the nuclear pore complex (NPC) (PubMed:11564755, PubMed:11684705). Involved in poly(A)+ RNA transport.
Phenotypes From GWAS Catalog for NUP160 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15146057 |
| GO:0017056 | structural constituent of nuclear pore | IDA | 11684705 |
Phenotypes for NUP160 Gene
- GenomeRNAi human phenotypes for NUP160:
-
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Decreased vaccinia virus (VACV) infection
- Decreased p24 protein expression
- Decreased shRNA abundance (Z-score < -2)
- Nucleoplasmic pre-40S maturation defects
- Nuclear 60S biogenesis defects
- Increased shRNA abundance (Z-score > 2)
- Increased ionizing radiation sensitivity
- Strongly decreased NFAT1-GFP nuclear translocation
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased vesicular stomatitis virus (VSV) infection
- Nuclear 40S maturation defects
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for NUP160 - Starting at $85 >
- * NUP160 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for NUP160
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NUP160
-
Santa Cruz Biotechnology (SCBT) CRISPR for NUP160
miRNA for NUP160 Gene
- miRTarBase miRNAs that target NUP160
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NUP160
- Browse OriGene Inhibitory RNA Products For NUP160
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP160
Clone products for research
- Applied Biological Materials (abm): Clones for NUP160 - Starting at $45 >
- * NUP160 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for NUP160
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NUP160
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NUP160 Gene
Localization for NUP160 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NUP160 Gene
- Nucleus, nuclear pore complex.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000776 | colocalizes_with kinetochore | IDA | 15146057 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005635 | nuclear envelope | TAS | -- |
| GO:0005643 | nuclear pore | IBA,IDA | 11564755 |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for NUP160 Gene
Pathways & Interactions for NUP160 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of the SLBP independent Mature mRNA |
.55
|
|
| 2 | HIV Life Cycle |
.91
.64
|
.45
|
| 3 | Cell Cycle, Mitotic |
.83
|
.60
|
| 4 | Mitotic Prophase |
.57
|
|
| 5 | Influenza Viral RNA Transcription and Replication | ||
Pathways by source for NUP160 Gene
71 Reactome pathways for NUP160 Gene
2 KEGG pathways for NUP160 Gene
Interacting Proteins for NUP160 Gene
Selected Interacting proteins:
Q12769-NU160_HUMAN
ENSP00000367721
for NUP160 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for NUP160
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006110 | regulation of glycolytic process | TAS | -- |
| GO:0006406 | mRNA export from nucleus | TAS | -- |
| GO:0006409 | tRNA export from nucleus | TAS | -- |
| GO:0015031 | protein transport | IEA | -- |
| GO:0016032 | viral process | TAS | -- |
No data available for SIGNOR curated interactions for NUP160 Gene
Transcripts for NUP160 Gene
mRNA/cDNA for NUP160 Gene
- 2 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000378460 5376 nts (view in UCSC)
- ENST00000526569 533 nts (view in UCSC)
- ENST00000526870 1537 nts (view in UCSC)
- ENST00000527126 527 nts (view in UCSC)
- ENST00000527750 353 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for NUP160 - Starting at $85 >
- * NUP160 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for NUP160
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NUP160
-
Santa Cruz Biotechnology (SCBT) CRISPR for NUP160
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NUP160
- Browse OriGene Inhibitory RNA Products For NUP160
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP160
Clone products for research
- Applied Biological Materials (abm): Clones for NUP160 - Starting at $45 >
- * NUP160 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for NUP160
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NUP160
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29a | · | 29b | · | 29c | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35a | · | 35b | ^ | 36 | ^ | 37 | ^ | 38a | · | 38b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||
| SP8: |
Relevant External Links for NUP160 Gene
- GeneLoc Exon Structure for
- NUP160
Expression for NUP160 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (16.7) and Lymph node (7.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP160 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP160
SOURCE GeneReport for Unigene cluster for NUP160 Gene:
Hs.744107Evidence on tissue expression from TISSUES for NUP160 Gene
- Skin(4.4)
- Muscle(4.4)
- Liver(4.4)
- Intestine(4.3)
- Bone marrow(4.2)
- Nervous system(3)
- Kidney(2)
Primer products for research
-
OriGene qPCR primer pairs for NUP160
Gene Expression Assays for research
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 NUP160 Gene
Orthologs for NUP160 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NUP160 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NUP160 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NUP160 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Nup160 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Nup160 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | NUP160 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | NUP160 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | NUP160 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | NUP160 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | CABZ01080568.2 31 |
|
OneToOne | |
| nup160 30 |
|
||||
| zgc66306 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Nup160 30 31 |
|
OneToOne | |
| CG4738 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8115 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany |
- Species where no ortholog for NUP160 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for NUP160 Gene
- ENSEMBL:
- Gene Tree for NUP160 (if available)
- TreeFam:
- Gene Tree for NUP160 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NUP160: view image
Paralogs for NUP160 Gene
No data available for Paralogs for NUP160 Gene
Variants for NUP160 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP160 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs149674516 | Benign: not provided | 47,780,406(-) |
G/A NM_015231.2(NUP160):c.4158C>T (p.Tyr1386=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs186987850 | Benign: not provided | 47,812,399(-) |
T/C NM_015231.2(NUP160):c.1983A>G (p.Lys661=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs56962998 | Benign: not provided | 47,779,171(-) |
T/C NM_015231.2(NUP160):c.4245A>G (p.Lys1415=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs766361033 | Uncertain Significance: Nephrotic syndrome, type 19 | 47,803,485(-) |
G/A NM_015231.2(NUP160):c.2728C>T (p.Arg910Ter) |
NONSENSE,NON_CODING_TRANSCRIPT | |
| rs775637217 | Uncertain Significance: Nephrotic syndrome, type 19. Nephrotic syndrome 19 (NPHS19) [MIM:618178] | 47,807,109(-) |
C/Tp.Glu803Lys NM_015231.2(NUP160):c.2407G>A (p.Glu803Lys) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1111n100 | CNV | gain | 25217958 |
| esv2669124 | CNV | deletion | 23128226 |
| esv3626209 | CNV | loss | 21293372 |
| esv3626210 | CNV | gain | 21293372 |
| esv3626211 | CNV | gain | 21293372 |
| nsv469858 | CNV | gain | 16826518 |
| nsv825874 | CNV | loss | 20364138 |
| nsv832143 | CNV | loss | 17160897 |
| nsv983009 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
3.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.44;
71.40% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NUP160 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP160 Gene
Disorders for NUP160 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nephrotic syndrome, type 19 |
|
|
| genetic steroid-resistant nephrotic syndrome |
|
|
| nephrotic syndrome |
|
|
| ovarian angiosarcoma |
|
|
| lethal congenital contracture syndrome 1 |
|
|
Search NUP160 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NU160_HUMAN- Nephrotic syndrome 19 (NPHS19) [MIM:618178]: 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. NPHS19 is an autosomal recessive, steroid-resistant form with onset in the first or second decade of life, resulting in chronic kidney disease. {ECO:0000269 PubMed:30179222, ECO:0000269 PubMed:30910934}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Additional Disease Information for NUP160
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for NUP160 Gene
Publications for NUP160 Gene
- Novel vertebrate nucleoporins Nup133 and Nup160 play a role in mRNA export. (PMID: 11684705) Vasu S … Forbes DJ (The Journal of cell biology 2001) 2 3 4 23
- 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
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 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 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
ExternalLinks
Products for NUP160 Gene
- Custom Antibody ServicesOriGene Antibodies for NUP160
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for NUP160
- Search Origene for MassSpec and Protein Over-expression Lysates for NUP160
- Origene Custom Protein Services for NUP160
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NUP160
- Browse OriGene Inhibitory RNA Products For NUP160
- OriGene qPCR primer pairs for NUP160
- OriGene CRISPR knockouts for NUP160
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For NUP160
- Sino Biological Human cDNA Clone for NUP160
- Browse Sino Biological Recombinant Proteins
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for NUP160
- Novus Biologicals lysates for NUP160
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- Invitrogen Antibodies for NUP160 (AFLGC-NUP160)
- VectorBuilder Custom and pre-made DNA vectors for NUP160 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for NUP160 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for NUP160 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for NUP160 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for NUP160
- antibodies-online: Show 29 available NUP160 Antibodies ranked by validation data
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- antibodies-online: Show 25 available NUP160 Elisa Kits ranked by validation data
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- antibodies-online: Show 7 available NUP160 Proteins ranked by validation data
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- Custom Antibody ServicesProSci Antibodies for NUP160
- Search for NUP160 Proteins at ProSci
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NUP160
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NUP160
- Search GeneCopoeia for miRNA 3'UTR Target clone products for NUP160
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP160
- Biorbyt antibodies for NUP160
Sources for NUP160 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (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) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB