Human Gene NUB1 (ENST00000413040.7) from GENCODE V44
  Description: Homo sapiens negative regulator of ubiquitin like proteins 1 (NUB1), transcript variant 2, mRNA. (from RefSeq NM_016118)
RefSeq Summary (NM_016118): 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].
Gencode Transcript: ENST00000413040.7
Gencode Gene: ENSG00000013374.17
Transcript (Including UTRs)
   Position: hg38 chr7:151,341,772-151,378,449 Size: 36,678 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr7:151,345,350-151,377,225 Size: 31,876 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:151,341,772-151,378,449)mRNA (may differ from genome)Protein (601 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NUB1_HUMAN
DESCRIPTION: RecName: Full=NEDD8 ultimate buster 1; AltName: Full=Negative regulator of ubiquitin-like proteins 1; AltName: Full=Renal carcinoma antigen NY-REN-18;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Nucleus. Note=Predominantly nuclear.
TISSUE SPECIFICITY: Widely expressed with lowest expression in the pancreas for isoform 1 and in leukocytes, liver, prostate and skeletal muscle for isoform 2.
INDUCTION: By TNF, IFNG/IFN-gamma and IFNB1/IFN-beta.
SIMILARITY: Contains 3 UBA domains.
SEQUENCE CAUTION: Sequence=AAD42865.1; Type=Frameshift; Positions=365, 393;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NUB1
Diseases sorted by gene-association score: leber congenital amaurosis (10), leber congenital amaurosis 4 (9), synucleinopathy (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.75 RPKM in Testis
Total median expression: 520.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.0077-0.429 Picture PostScript Text
3' UTR -424.401224-0.347 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009060 - UBA-like
IPR000449 - UBA/transl_elong_EF1B_N
IPR015940 - UBA/transl_elong_EF1B_N_euk

Pfam Domains:
PF00627 - UBA/TS-N domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1WJU - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y5A7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0016567 protein ubiquitination
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0034341 response to interferon-gamma
GO:0034612 response to tumor necrosis factor
GO:0043687 post-translational protein modification

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF300717 - Homo sapiens NUB1 (NUB1) mRNA, complete cds.
AY129295 - Homo sapiens NEDD8 ultimate buster-1 (NUB1) mRNA, complete cds; alternatively spliced.
AF459743 - Homo sapiens NEDD8 ultimate buster-1 (NUB1L) mRNA, complete cds; alternatively spliced.
AK293159 - Homo sapiens cDNA FLJ52250 complete cds, highly similar to NEDD8 ultimate buster 1.
AF155099 - Homo sapiens NY-REN-18 antigen mRNA, complete cds.
BC034716 - Homo sapiens NEDD8 ultimate buster-1, mRNA (cDNA clone IMAGE:4753678), containing frame-shift errors.
BC046354 - Homo sapiens negative regulator of ubiquitin-like proteins 1, mRNA (cDNA clone MGC:49831 IMAGE:6070128), complete cds.
AK026433 - Homo sapiens cDNA: FLJ22780 fis, clone KAIA1760.
JD432704 - Sequence 413728 from Patent EP1572962.
JD402143 - Sequence 383167 from Patent EP1572962.
JD258903 - Sequence 239927 from Patent EP1572962.
JD461158 - Sequence 442182 from Patent EP1572962.
JD299400 - Sequence 280424 from Patent EP1572962.
JD136039 - Sequence 117063 from Patent EP1572962.
JD060276 - Sequence 41300 from Patent EP1572962.
JD427442 - Sequence 408466 from Patent EP1572962.
JD157514 - Sequence 138538 from Patent EP1572962.
JD400268 - Sequence 381292 from Patent EP1572962.
JD052907 - Sequence 33931 from Patent EP1572962.
JD500458 - Sequence 481482 from Patent EP1572962.
JD126638 - Sequence 107662 from Patent EP1572962.
JD078715 - Sequence 59739 from Patent EP1572962.
JD487825 - Sequence 468849 from Patent EP1572962.
JD487826 - Sequence 468850 from Patent EP1572962.
JD522835 - Sequence 503859 from Patent EP1572962.
JD189596 - Sequence 170620 from Patent EP1572962.
JD366958 - Sequence 347982 from Patent EP1572962.
JD122361 - Sequence 103385 from Patent EP1572962.
JD376169 - Sequence 357193 from Patent EP1572962.
JD102764 - Sequence 83788 from Patent EP1572962.
JD354462 - Sequence 335486 from Patent EP1572962.
JD545098 - Sequence 526122 from Patent EP1572962.
JD469511 - Sequence 450535 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y5A7 (Reactome details) participates in the following event(s):

R-HSA-8956140 NEDD8 and UBD bind NUB1 and the 26S proteasome
R-HSA-8951664 Neddylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins
R-HSA-8956140 NEDD8 and UBD bind NUB1 and the 26S proteasome
R-HSA-8951664 Neddylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000413040.1, ENST00000413040.2, ENST00000413040.3, ENST00000413040.4, ENST00000413040.5, ENST00000413040.6, NM_016118, NUB1_HUMAN, NYREN18, O95422, Q75MR9, Q8IX22, Q9BXR2, Q9Y5A7, uc003wjw.1, uc003wjw.2, uc003wjw.3, uc003wjw.4, uc003wjw.5, uc003wjw.6, uc003wjw.7
UCSC ID: ENST00000413040.7
RefSeq Accession: NM_016118
Protein: Q9Y5A7 (aka NUB1_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.