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

  • Nucleoporin 160 2 3 5
  • Nuclear Pore Complex Protein Nup160 3 4
  • 160 KDa Nucleoporin 3 4
  • Nucleoporin Nup160 3 4
  • Nucleoporin 160kDa 2 3
  • Nucleoporin 160kD 3
  • KIAA0197 4
  • NPHS19 3
  • NUP120 4

External Ids for NUP160 Gene

Previous GeneCards Identifiers for NUP160 Gene

  • GC11M049712
  • GC11M048677
  • GC11M047831
  • GC11M047763
  • GC11M047757
  • GC11M047505
  • GC11M047866
  • GC11M048084
  • GC11M048807
  • GC11M049912
  • GC11M047973
  • GC11M048098
  • GC11M055827
  • GC11M056053
  • GC11M056198
  • GC11M050811
  • GC11M051606
  • GC11M052268
  • GC11M052928
  • GC11M053596
  • GC11M054262
  • GC11M054928
  • GC11M055630

Summaries for NUP160 Gene

Entrez Gene Summary 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 Metabolism of proteins and Mitotic Metaphase and Anaphase.

UniProtKB/Swiss-Prot Summary for NUP160 Gene

Gene Wiki entry for NUP160 Gene

Additional gene information for NUP160 Gene

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 for NUP160 Gene

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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for NUP160 Gene
chr11:47,778,087-47,848,555
(GRCh38/hg38)
Size:
70,469 bases
Orientation:
Minus strand
chr11:47,799,639-47,870,107
(GRCh37/hg19)
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:
NUP160 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP160 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • B4DYE8
    • B4E2J9
    • Q08AD3
    • Q7Z5X6
    • Q96GB3
    • Q9H660

    Protein attributes for NUP160 Gene

    Size:
    1436 amino acids
    Molecular mass:
    162121 Da
    Quaternary structure:
    • 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.
    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};

    Three dimensional structures from OCA and Proteopedia for NUP160 Gene

    Alternative splice isoforms for NUP160 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUP160 Gene

Post-translational modifications for NUP160 Gene

  • Ubiquitination at Lys343, Lys131, Lys925, Lys939, Lys965, Lys1006, Lys1120, Lys1185, and Lys1415
  • Modification sites at PhosphoSitePlus

Other Protein References for NUP160 Gene

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)
genes like me logo Genes that share domains with NUP160: view

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:
Involved in poly(A)+ RNA transport.

Phenotypes From GWAS Catalog for NUP160 Gene

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with NUP160: view
genes like me logo Genes that share phenotypes with NUP160: view

Human Phenotype Ontology for NUP160 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for NUP160 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV 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.

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 NUP160 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NUP160 Gene

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 IDA,IBA 11564755
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NUP160: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NUP160 Gene

Pathways & Interactions for NUP160 Gene

PathCards logo

SuperPathways for NUP160 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 NUP160: view

Pathways by source for NUP160 Gene

Gene Ontology (GO) - Biological Process for NUP160 Gene

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 --
genes like me logo Genes that share ontologies with NUP160: view

No data available for SIGNOR curated interactions for NUP160 Gene

Drugs & Compounds for NUP160 Gene

No Compound Related Data Available

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP160

Alternative Splicing Database (ASD) splice patterns (SP) for NUP160 Gene

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP160 Gene

Protein differential expression in normal tissues from HIPED 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



Protein tissue co-expression partners 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.744107

Evidence on tissue expression from TISSUES for NUP160 Gene

  • Bone marrow(4.2)
  • Intestine(4.2)
  • Liver(4.2)
  • Muscle(4.2)
  • Skin(4.2)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with NUP160: 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 NUP160 Gene

Orthologs for NUP160 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUP160 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUP160 31 30
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NUP160 31 30
  • 90.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NUP160 31 30
  • 90.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nup160 30
  • 89 (n)
mouse
(Mus musculus)
Mammalia Nup160 17 31 30
  • 88.23 (n)
oppossum
(Monodelphis domestica)
Mammalia NUP160 31
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NUP160 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUP160 31 30
  • 69.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUP160 31
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CABZ01080568.2 31
  • 64 (a)
OneToOne
nup160 30
  • 63.48 (n)
zgc66306 30
fruit fly
(Drosophila melanogaster)
Insecta Nup160 31 30
  • 43.63 (n)
OneToOne
CG4738 32
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8115 31
  • 32 (a)
OneToMany
-- 31
  • 24 (a)
OneToMany
Species where no ortholog for NUP160 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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
724593 Benign: not provided 47,812,399(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
730008 Benign: not provided 47,780,406(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
790091 Benign: not provided 47,779,171(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs766361033 Uncertain Significance: NEPHROTIC SYNDROME, TYPE 19 47,803,485(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
rs775637217 Uncertain Significance: NEPHROTIC SYNDROME, TYPE 19. Nephrotic syndrome 19 (NPHS19) [MIM:618178] 47,807,109(-) C/Tp.Glu803Lys MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for NUP160 Gene

Structural Variations from Database of Genomic Variants (DGV) for NUP160 Gene

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

Variation tolerance for NUP160 Gene

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

Human Gene Mutation Database (HGMD)
NUP160
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP160

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP160 Gene

Disorders for NUP160 Gene

MalaCards: The human disease database

(9) MalaCards diseases for NUP160 Gene - From: OMIM, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 19
  • nphs19
genetic steroid-resistant nephrotic syndrome
  • nephrotic syndrome, steroid-resistant, autosomal recessive
nephrotic syndrome
  • finnish congenital nephrotic syndrome
ovarian angiosarcoma
  • hemangiosarcoma of ovary
ovary sarcoma
  • sarcoma of ovary
- elite association - COSMIC cancer census association via MalaCards

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}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NUP160

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 NUP160: view

No data available for Genatlas for NUP160 Gene

Publications for NUP160 Gene

  1. 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 54
  2. 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 54
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  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 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for NUP160 Gene

Sources for NUP160 Gene