Human Gene NUB1 (uc003wjx.3)
  Description: Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.
RefSeq Summary (NM_001243351): 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].
Transcript (Including UTRs)
   Position: hg19 chr7:151,038,847-151,075,548 Size: 36,702 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr7:151,038,863-151,074,311 Size: 35,449 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:151,038,847-151,075,548)mRNA (may differ from genome)Protein (639 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSCGAPEnsemblEntrez GeneExonPrimer
GeneCardsH-INVHGNCLynxMGIOMIM
PubMedTreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: H3BM74_HUMAN
DESCRIPTION: SubName: Full=NEDD8 ultimate buster 1;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -3.4016-0.213 Picture PostScript Text
3' UTR -433.601237-0.351 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

SCOP Domains:
48452 - TPR-like
46934 - UBA-like
54236 - Ubiquitin-like

ModBase Predicted Comparative 3D Structure on H3BM74
FrontTopSide
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
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
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.

-  Other Names for This Gene
  Alternate Gene Symbols: H3BM74, H3BM74_HUMAN, NM_001243351, NP_001230280
UCSC ID: uc003wjx.3
RefSeq Accession: NM_001243351
Protein: H3BM74 CCDS: CCDS47751.2, CCDS59089.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001243351.1
exon count: 15CDS single in 3' UTR: no RNA size: 3187
ORF size: 1920CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4040.00frame shift in genome: no % Coverage: 99.56
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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