Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NPLOC4 Gene

Aliases for NPLOC4 Gene

  • NPL4 Homolog, Ubiquitin Recognition Factor 2 3 5
  • NPLOC4 Ubiquitin Recognition Factor 2 3
  • NPL4 3 4
  • Nuclear Protein Localization 4 Homolog (S. Cerevisiae) 2
  • Nuclear Protein Localization Protein 4 Homolog 3
  • Nuclear Protein Localization 4 Homolog 3
  • Protein NPL4 4
  • KIAA1499 4

External Ids for NPLOC4 Gene

Previous GeneCards Identifiers for NPLOC4 Gene

  • GC17M077135
  • GC17M079523
  • GC17M074971

Summaries for NPLOC4 Gene

GeneCards Summary for NPLOC4 Gene

NPLOC4 (NPL4 Homolog, Ubiquitin Recognition Factor) is a Protein Coding gene. Diseases associated with NPLOC4 include Dementia, Frontotemporal. Among its related pathways are Protein processing in endoplasmic reticulum and Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template. GO annotations related to this gene include ubiquitin protein ligase binding and ubiquitin binding.

UniProtKB/Swiss-Prot for NPLOC4 Gene

  • The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and UFD1, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination and degradation of DDX58/RIG-I (PubMed:26471729).

Gene Wiki entry for NPLOC4 Gene

Additional gene information for NPLOC4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPLOC4 Gene

Genomics for NPLOC4 Gene

Regulatory Elements for NPLOC4 Gene

Enhancers for NPLOC4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H081558 1.4 Ensembl ENCODE dbSUPER 33.5 +84.1 84103 11 PKNOX1 FOXA2 NFIB ZSCAN4 SIN3A FEZF1 BATF RAD21 ZNF366 FOS NPLOC4 TSPAN10 ARL16 OXLD1 FSCN2 ENSG00000229848 ENSG00000262877 PDE6G CCDC137 GCGR
GH17H081596 1.3 Ensembl ENCODE dbSUPER 31.3 +49.0 49006 5 HDGF TBL1XR1 RAD21 ZNF143 ETV6 ZNF391 RUNX3 CREM IKZF2 ZNF654 TSPAN10 NPLOC4 ARL16 FAAP100 PDE6G OXLD1 CCDC137 TMEM105 GC17M081601 GC17M081598
GH17H082095 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.5 -453.3 -453345 13 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 ZNF585B CCDC57 CEP131 LOC105371942 TBCD ALYREF HGS WDR45B NPLOC4 ARL16 DCXR
GH17H082492 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -847.0 -847028 6 ZFP64 FEZF1 YY1 SLC30A9 ZNF416 ZNF143 SP3 NFYC ZFP41 MEF2D TBCD HGS NARF ALYREF ENSG00000260563 GPS1 ARL2BPP9 FOXK2 NARF-IT1 ENSG00000262652
GH17H081579 1.3 FANTOM5 ENCODE dbSUPER 19.3 +68.4 68361 1 ZIC2 ZNF2 GLIS2 ZSCAN16 POLR2A GLIS1 PRDM10 ZNF600 ZNF423 ARL16 NPLOC4 HGS PCYT2 ENSG00000207021 GC17M081598 PIR48383
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NPLOC4 on UCSC Golden Path with GeneCards custom track

Genomic Location for NPLOC4 Gene

Chromosome:
17
Start:
81,556,885 bp from pter
End:
81,648,465 bp from pter
Size:
91,581 bases
Orientation:
Minus strand

Genomic View for NPLOC4 Gene

Genes around NPLOC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPLOC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPLOC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPLOC4 Gene

Proteins for NPLOC4 Gene

  • Protein details for NPLOC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAT6-NPL4_HUMAN
    Recommended name:
    Nuclear protein localization protein 4 homolog
    Protein Accession:
    Q8TAT6
    Secondary Accessions:
    • Q8N3J1
    • Q9H8V2
    • Q9H964
    • Q9NWR5
    • Q9P229

    Protein attributes for NPLOC4 Gene

    Size:
    608 amino acids
    Molecular mass:
    68120 Da
    Quaternary structure:
    • Heterodimer with UFD1 (PubMed:11574150, PubMed:26471729). The heterodimer binds ubiquitinated proteins (By similarity). The heterodimer binds to VCP and inhibits Golgi membrane fusion (PubMed:11574150, PubMed:26471729).
    SequenceCaution:
    • Sequence=BAA91314.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA96023.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14372.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14499.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NPLOC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPLOC4 Gene

Post-translational modifications for NPLOC4 Gene

  • Ubiquitination at posLast=6262, posLast=6868, posLast=116116, posLast=189189, posLast=207207, Lys243, posLast=260260, posLast=302302, Lys307, Lys404, posLast=431431, and Lys544
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NPLOC4 Gene

Domains & Families for NPLOC4 Gene

Gene Families for NPLOC4 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q8TAT6

UniProtKB/Swiss-Prot:

NPL4_HUMAN :
  • Binds ubiquitinated proteins via its RanBP2-type zinc finger.
  • Belongs to the NPL4 family.
Domain:
  • Binds ubiquitinated proteins via its RanBP2-type zinc finger.
Family:
  • Belongs to the NPL4 family.
genes like me logo Genes that share domains with NPLOC4: view

Function for NPLOC4 Gene

Molecular function for NPLOC4 Gene

UniProtKB/Swiss-Prot Function:
The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and UFD1, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination and degradation of DDX58/RIG-I (PubMed:26471729).

Phenotypes From GWAS Catalog for NPLOC4 Gene

Gene Ontology (GO) - Molecular Function for NPLOC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11574150
GO:0031625 ubiquitin protein ligase binding IBA --
GO:0043130 ubiquitin binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NPLOC4: view
genes like me logo Genes that share phenotypes with NPLOC4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NPLOC4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NPLOC4 Gene

Localization for NPLOC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPLOC4 Gene

Cytoplasm, cytosol. Endoplasmic reticulum. Nucleus. Note=Associated with the endoplasmic reticulum and nuclear. {ECO:0000250 UniProtKB:Q9ES54}.

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 NPLOC4 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NPLOC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum ISS 11574150
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with NPLOC4: view

Pathways & Interactions for NPLOC4 Gene

genes like me logo Genes that share pathways with NPLOC4: view

UniProtKB/Swiss-Prot Q8TAT6-NPL4_HUMAN

  • Pathway: Protein degradation; proteasomal ubiquitin-dependent pathway.

Gene Ontology (GO) - Biological Process for NPLOC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IMP 26471729
GO:0007030 Golgi organization ISS 11574150
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process ISS 11574150
GO:0030970 retrograde protein transport, ER to cytosol IMP 25660456
GO:0032480 negative regulation of type I interferon production IMP 26471729
genes like me logo Genes that share ontologies with NPLOC4: view

No data available for SIGNOR curated interactions for NPLOC4 Gene

Drugs & Compounds for NPLOC4 Gene

No Compound Related Data Available

Transcripts for NPLOC4 Gene

Unigene Clusters for NPLOC4 Gene

Nuclear protein localization 4 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NPLOC4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for NPLOC4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^
SP1: - - - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - -
SP9: -
SP10:

ExUns: 22 ^ 23a · 23b · 23c · 23d · 23e · 23f · 23g · 23h · 23i
SP1: -
SP2: -
SP3:
SP4:
SP5: -
SP6: -
SP7: -
SP8: -
SP9: -
SP10: -

Relevant External Links for NPLOC4 Gene

GeneLoc Exon Structure for
NPLOC4
ECgene alternative splicing isoforms for
NPLOC4

Expression for NPLOC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NPLOC4 Gene

mRNA differential expression in normal tissues according to GTEx for NPLOC4 Gene

This gene is overexpressed in Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for NPLOC4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.9) and Lymph node (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NPLOC4 Gene



Protein tissue co-expression partners for NPLOC4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NPLOC4 Gene:

NPLOC4

SOURCE GeneReport for Unigene cluster for NPLOC4 Gene:

Hs.464333

mRNA Expression by UniProt/SwissProt for NPLOC4 Gene:

Q8TAT6-NPL4_HUMAN
Tissue specificity: Expressed at highest levels in brain, heart, skeletal muscle, kidney and fetal liver.

Evidence on tissue expression from TISSUES for NPLOC4 Gene

  • Nervous system(4.8)
  • Pancreas(4.4)
  • Liver(4.3)
  • Blood(4.2)
  • Lung(2.4)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with NPLOC4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for NPLOC4 Gene

Orthologs for NPLOC4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NPLOC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NPLOC4 33 34
  • 99.4 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NPLOC4 33 34
  • 90.57 (n)
dog
(Canis familiaris)
Mammalia NPLOC4 33 34
  • 90.44 (n)
rat
(Rattus norvegicus)
Mammalia Nploc4 33
  • 89.36 (n)
mouse
(Mus musculus)
Mammalia Nploc4 33 16 34
  • 89.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NPLOC4 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPLOC4 33 34
  • 82.13 (n)
lizard
(Anolis carolinensis)
Reptilia NPLOC4 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nploc4 33
  • 76.43 (n)
African clawed frog
(Xenopus laevis)
Amphibia npl4-prov 33
zebrafish
(Danio rerio)
Actinopterygii nploc4 33 34
  • 75.32 (n)
wufi11f09 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001986 33
  • 55.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta Npl4 33 34
  • 55.41 (n)
worm
(Caenorhabditis elegans)
Secernentea npl-4.2 33 34
  • 51.08 (n)
npl-4.1 34
  • 44 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR211W 33
  • 48.9 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E24575g 33
  • 45.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPL4 33 34 36
  • 45.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4296 34
  • 47 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02680 33
  • 46.85 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes npl4 33
  • 45.07 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14013 33
Species where no ortholog for NPLOC4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • wheat (Triticum aestivum)

Evolution for NPLOC4 Gene

ENSEMBL:
Gene Tree for NPLOC4 (if available)
TreeFam:
Gene Tree for NPLOC4 (if available)

Paralogs for NPLOC4 Gene

No data available for Paralogs for NPLOC4 Gene

Variants for NPLOC4 Gene

Sequence variations from dbSNP and Humsavar for NPLOC4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000021564 -- 81,629,991(+) TCAAC(A/T)TATGG intron-variant
rs1000023393 -- 81,591,698(+) GATGG(G/T)TTTGT intron-variant
rs1000023886 -- 81,577,138(+) AGATA(C/T)CCTCT intron-variant
rs1000095527 -- 81,590,671(+) TGGAT(G/T)AAAAA intron-variant
rs1000171361 -- 81,559,706(+) GGGAT(A/G)TGCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NPLOC4 Gene

Variant ID Type Subtype PubMed ID
dgv1522n106 CNV deletion 24896259
esv1009816 CNV insertion 20482838
esv1319911 CNV deletion 17803354
esv26223 CNV gain+loss 19812545
esv2666942 CNV deletion 23128226
esv2667665 CNV deletion 23128226
esv2716454 CNV deletion 23290073
esv3363550 CNV insertion 20981092
esv3554885 CNV deletion 23714750
esv9166 CNV loss 19470904
nsv1071812 CNV deletion 25765185
nsv1150393 CNV insertion 26484159
nsv2164 CNV insertion 18451855
nsv428351 CNV gain 18775914
nsv470620 CNV loss 18288195
nsv471902 CNV novel sequence insertion 20440878
nsv828128 CNV loss 20364138
nsv833567 CNV loss 17160897
nsv833568 CNV loss 17160897
nsv952389 CNV deletion 24416366
nsv954534 CNV deletion 24416366

Variation tolerance for NPLOC4 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.34; 7.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NPLOC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPLOC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPLOC4 Gene

Disorders for NPLOC4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NPLOC4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dementia, frontotemporal
  • dementia, frontotemporal, with or without parkinsonism
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NPLOC4

Genetic Association Database (GAD)
NPLOC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPLOC4
genes like me logo Genes that share disorders with NPLOC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NPLOC4 Gene

Publications for NPLOC4 Gene

  1. Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L). (PMID: 11574150) Botta A … Novelli G (Gene 2001) 2 3 4 22 60
  2. A non-canonical role of the p97 complex in RIG-I antiviral signaling. (PMID: 26471729) Hao Q … Zhou Z (The EMBO journal 2015) 3 4 60
  3. The p97-Ufd1-Npl4 ATPase complex ensures robustness of the G2/M checkpoint by facilitating CDC25A degradation. (PMID: 24429874) Riemer A … Meyer H (Cell cycle (Georgetown, Tex.) 2014) 2 3 60
  4. Digital quantification of human eye color highlights genetic association of three new loci. (PMID: 20463881) Liu F … Kayser M (PLoS genetics 2010) 3 45 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for NPLOC4 Gene

Sources for NPLOC4 Gene

Content
Loading form....