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Aliases for NUB1 Gene

Aliases for NUB1 Gene

  • Negative Regulator Of Ubiquitin Like Proteins 1 2 3 5
  • Renal Carcinoma Antigen NY-REN-18 3 4
  • NEDD8 Ultimate Buster-1 2 3
  • NYREN18 3 4
  • Negative Regulator Of Ubiquitin-Like Proteins 1 4
  • NEDD8 Ultimate Buster 1 3
  • NUB1L 3
  • BS4 3

External Ids for NUB1 Gene

Previous GeneCards Identifiers for NUB1 Gene

  • GC07P150669
  • GC07P151038
  • GC07P144850

Summaries for NUB1 Gene

Entrez Gene Summary for NUB1 Gene

  • This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

GeneCards Summary for NUB1 Gene

NUB1 (Negative Regulator Of Ubiquitin Like Proteins 1) is a Protein Coding gene. Diseases associated with NUB1 include Leber Congenital Amaurosis and Synucleinopathy.

UniProtKB/Swiss-Prot for NUB1 Gene

  • Specific down-regulator of the NEDD8 conjugation system. Recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. Isoform 1 promotes the degradation of NEDD8 more efficiently than isoform 2.

Gene Wiki entry for NUB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUB1 Gene

Genomics for NUB1 Gene

Regulatory Elements for NUB1 Gene

Enhancers for NUB1 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
GH07G151339 1.5 FANTOM5 ENCODE 7.3 -0.3 -277 4.0 HDGF FOXA2 PKNOX1 CREB3L1 ARNT AGO1 ZFP64 WRNIP1 ARID4B SIN3A NUB1 SMARCD3 SLC4A2 AGAP3
GH07G151365 1.3 Ensembl ENCODE 7.4 +25.5 25467 3.5 HDGF HNRNPUL1 PKNOX1 CREB3L1 MLX ARNT AGO1 ARID4B SIN3A DMAP1 WDR86-AS1 WDR86 CRYGN ENSG00000241456 RHEB SMARCD3 ENSG00000243018 NUB1 GC07M151365 GC07P151348
GH07G151348 1.4 Ensembl ENCODE 5.8 +9.2 9220 4.8 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A ZNF2 NUB1 GC07P151348 GC07M151365
GH07G151379 1.2 Ensembl ENCODE 5.8 +39.6 39645 3.2 HDGF HNRNPUL1 PKNOX1 AGO1 SIN3A YBX1 ZNF2 GLIS2 KLF7 ZNF263 WDR86 WDR86-AS1 ENSG00000241456 CRYGN SMARCD3 ENSG00000243018 NUB1 PIR52552 GC07M151365
GH07G151336 0.6 FANTOM5 8.5 -5.3 -5316 0.4 CTCF JUND TARDBP JUNB REST ZBTB7A RELA NUB1 AGAP3 SLC4A2 PRKAG2 RHEB SMARCD3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NUB1 on UCSC Golden Path with GeneCards custom track

Promoters for NUB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000219822 401 1801 HDGF FOXA2 PKNOX1 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9

Genomic Location for NUB1 Gene

Chromosome:
7
Start:
151,341,699 bp from pter
End:
151,378,461 bp from pter
Size:
36,763 bases
Orientation:
Plus strand

Genomic View for NUB1 Gene

Genes around NUB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUB1 Gene

Proteins for NUB1 Gene

  • Protein details for NUB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5A7-NUB1_HUMAN
    Recommended name:
    NEDD8 ultimate buster 1
    Protein Accession:
    Q9Y5A7
    Secondary Accessions:
    • O95422
    • Q75MR9
    • Q8IX22
    • Q9BXR2

    Protein attributes for NUB1 Gene

    Size:
    615 amino acids
    Molecular mass:
    70538 Da
    Quaternary structure:
    • Directly interacts with NEDD8 and PSMD4/S5a, a member of the regulatory subunit of the 26S proteasome. Isoform 1 binds to NEDD8 more efficiently than isoform 2. Interacts with AIPL1. The interaction with UBD via UBA domains facilitates the linking of UBD-conjugated target protein to the proteasome complex and accelerates UBD degradation and that of its conjugates.
    SequenceCaution:
    • Sequence=AAD42865.1; Type=Frameshift; Positions=365, 393; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUB1 Gene

    Alternative splice isoforms for NUB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUB1 Gene

Post-translational modifications for NUB1 Gene

  • Ubiquitination at posLast=1010, Lys167, posLast=312312, and Lys371
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NUB1 Gene

Domains & Families for NUB1 Gene

Protein Domains for NUB1 Gene

Suggested Antigen Peptide Sequences for NUB1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NUB1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for NUB1 Gene

Function for NUB1 Gene

Molecular function for NUB1 Gene

UniProtKB/Swiss-Prot Function:
Specific down-regulator of the NEDD8 conjugation system. Recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. Isoform 1 promotes the degradation of NEDD8 more efficiently than isoform 2.
UniProtKB/Swiss-Prot Induction:
By TNF, IFNG/IFN-gamma and IFNB1/IFN-beta.

Gene Ontology (GO) - Molecular Function for NUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12374762
genes like me logo Genes that share ontologies with NUB1: view
genes like me logo Genes that share phenotypes with NUB1: view

Animal Model Products

CRISPR Products

miRNA for NUB1 Gene

miRTarBase miRNAs that target NUB1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NUB1 Gene

Localization for NUB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUB1 Gene

Nucleus. Note=Predominantly nuclear.

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 NUB1 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for NUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with NUB1: view

Pathways & Interactions for NUB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IMP 16707496
GO:0016567 protein ubiquitination IMP 16707496
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP 16707496
GO:0034341 response to interferon-gamma IEP 16707496
GO:0034612 response to tumor necrosis factor IEP 16707496
genes like me logo Genes that share ontologies with NUB1: view

No data available for Pathways by source and SIGNOR curated interactions for NUB1 Gene

Drugs & Compounds for NUB1 Gene

No Compound Related Data Available

Transcripts for NUB1 Gene

Unigene Clusters for NUB1 Gene

Negative regulator of ubiquitin-like proteins 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NUB1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1: - -
SP2: - - -
SP3: - - -
SP4:
SP5: -
SP6:
SP7: -

Relevant External Links for NUB1 Gene

GeneLoc Exon Structure for
NUB1
ECgene alternative splicing isoforms for
NUB1

Expression for NUB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NUB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUB1 Gene

This gene is overexpressed in Lymph node (21.8) and Peripheral blood mononuclear cells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUB1 Gene



Protein tissue co-expression partners for NUB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUB1 Gene:

NUB1

SOURCE GeneReport for Unigene cluster for NUB1 Gene:

Hs.647082

mRNA Expression by UniProt/SwissProt for NUB1 Gene:

Q9Y5A7-NUB1_HUMAN
Tissue specificity: Widely expressed with lowest expression in the pancreas for isoform 1 and in leukocytes, liver, prostate and skeletal muscle for isoform 2.

Evidence on tissue expression from TISSUES for NUB1 Gene

  • Eye(4.3)
  • Heart(4.3)
  • Liver(4.3)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with NUB1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUB1 Gene

Orthologs for NUB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NUB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUB1 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia NUB1 34 35
  • 89.03 (n)
cow
(Bos Taurus)
Mammalia NUB1 34 35
  • 85.94 (n)
oppossum
(Monodelphis domestica)
Mammalia NUB1 35
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nub1 34 16 35
  • 82.76 (n)
rat
(Rattus norvegicus)
Mammalia Nub1 34
  • 82.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NUB1 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUB1 34 35
  • 67.11 (n)
lizard
(Anolis carolinensis)
Reptilia NUB1 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nub1 34
  • 61.76 (n)
zebrafish
(Danio rerio)
Actinopterygii nub1 34 35
  • 52.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15445 34 35
  • 43.8 (n)
CG5111 35
  • 27 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011519 34
  • 42.41 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G12550 34
  • 41.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToOne
Species where no ortholog for NUB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NUB1 Gene

ENSEMBL:
Gene Tree for NUB1 (if available)
TreeFam:
Gene Tree for NUB1 (if available)

Paralogs for NUB1 Gene

No data available for Paralogs for NUB1 Gene

Variants for NUB1 Gene

Sequence variations from dbSNP and Humsavar for NUB1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000020673 -- 151,341,773(+) TCACC(C/G)GGAAT upstream-variant-2KB, utr-variant-5-prime
rs1000288127 -- 151,368,681(+) TTGTA(-/TTAAGCT)TTAAG intron-variant
rs1000297419 -- 151,377,656(+) TCCCA(C/T)GCTGC downstream-variant-500B, utr-variant-3-prime
rs1000304244 -- 151,358,522(+) ACCCT(A/G)TTGTG intron-variant
rs1000342289 -- 151,369,013(+) TGTCC(-/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NUB1 Gene

Variant ID Type Subtype PubMed ID
dgv3695n106 OTHER inversion 24896259
dgv3698n106 CNV deletion 24896259
esv1609162 CNV deletion 17803354
esv2674263 CNV deletion 23128226
esv2735398 CNV deletion 23290073
esv2735399 CNV deletion 23290073
esv2735400 CNV deletion 23290073
esv3542658 CNV deletion 23714750
esv3615478 CNV gain 21293372
esv4189 CNV loss 18987735
nsv1067934 OTHER inversion 25765185
nsv1076967 CNV deletion 25765185
nsv1151906 OTHER inversion 26484159
nsv1153385 CNV insertion 26484159
nsv509225 CNV insertion 20534489
nsv958445 CNV deletion 24416366

Variation tolerance for NUB1 Gene

Residual Variation Intolerance Score: 49.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.93; 67.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NUB1 Gene

Human Gene Mutation Database (HGMD)
NUB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUB1 Gene

Disorders for NUB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NUB1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leber congenital amaurosis
  • lca
synucleinopathy
  • alpha synucleinopathies
- elite association - COSMIC cancer census association via MalaCards
Search NUB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NUB1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NUB1
genes like me logo Genes that share disorders with NUB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NUB1 Gene

Publications for NUB1 Gene

  1. NUB1, a NEDD8-interacting protein, is induced by interferon and down- regulates the NEDD8 expression. (PMID: 11259415) Kito K. … Kamitani T. (J. Biol. Chem. 2001) 2 3 4 22 64
  2. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. (PMID: 12374762) Akey D.T. … Sohocki M.M. (Hum. Mol. Genet. 2002) 3 4 22 64
  3. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PMID: 10508479) Scanlan M.J. … Old L.J. (Int. J. Cancer 1999) 2 3 4 64
  4. The UBA domains of NUB1L are required for binding but not for accelerated degradation of the ubiquitin-like modifier FAT10. (PMID: 16707496) Schmidtke G. … Groettrup M. (J. Biol. Chem. 2006) 3 4 64
  5. Predominant rod photoreceptor degeneration in Leber congenital amaurosis. (PMID: 16052170) van der Spuy J. … Cheetham M.E. (Mol. Vis. 2005) 3 22 64

Products for NUB1 Gene

Sources for NUB1 Gene

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