Human Gene UBD (uc003nmo.3)
  Description: Homo sapiens ubiquitin D (UBD), mRNA.
RefSeq Summary (NM_006398): This gene encodes a protein which contains two ubiquitin-like domains and appears to have similar function to ubiquitin. Through covalent attachment, the encoded protein targets other proteins for 26S proteasome degradation. This protein has been implicated to function in many cellular processes, including caspase-dependent apoptosis, formation of aggresomes, mitotic regulation, and dendritic cell maturation. Upregulation of this gene may promote inflammation in chronic kidney disease and has been observed in many cancer types. [provided by RefSeq, Aug 2017].
Transcript (Including UTRs)
   Position: hg19 chr6:29,523,389-29,527,702 Size: 4,314 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr6:29,523,657-29,527,478 Size: 3,822 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:29,523,389-29,527,702)mRNA (may differ from genome)Protein (165 aa)
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-  Comments and Description Text from UniProtKB
  ID: UBD_HUMAN
DESCRIPTION: RecName: Full=Ubiquitin D; AltName: Full=Diubiquitin; AltName: Full=Ubiquitin-like protein FAT10;
FUNCTION: Ubiquitin-like protein modifier which can be covalently attached to target protein and subsequently leads to their degradation by the 26S proteasome, in a NUB1L-dependent manner. Probably functions as a survival factor. Conjugation ability activated by UBA6. Promotes the expression of the proteasome subunit beta type-9 (PSMB9/LMP2). Regulates TNF-alpha-induced and LPS-mediated activation of the central mediator of innate immunity NF-kappa-B by promoting TNF-alpha-mediated proteasomal degradation of ubiquitinated-I-kappa-B-alpha. Required for TNF-alpha-induced p65 nuclear translocation in renal tubular epithelial cells (RTECs). May be involved in dendritic cell (DC) maturation, the process by which immature dendritic cells differentiate into fully competent antigen-presenting cells that initiate T-cell responses. Mediates mitotic non-disjunction and chromosome instability, in long-term in vitro culture and cancers, by abbreviating mitotic phase and impairing the kinetochore localization of MAD2L1 during the prometaphase stage of the cell cycle. May be involved in the formation of aggresomes when proteasome is saturated or impaired. Mediates apoptosis in a caspase-dependent manner, especially in renal epithelium and tubular cells during renal diseases such as polycystic kidney disease and Human immunodeficiency virus (HIV)- associated nephropathy (HIVAN).
SUBUNIT: Interact directly with the 26S proteasome. The interaction with NUB1L vie the N-terminal ubiquitin domain facilitates the linking of UBD-conjugated target protein to the proteasome complex and accelerates its own degradation and that of its conjugates. Interacts with the spindle checkpoint protein MAD2L1 during mitosis. Present in aggresomes of proteasome inhibited cells. Interacts with HDAC6 under proteasome impairment conditions. Forms a thioester with UBA6 in cells stimulated with tumor necrosis factor-alpha (TNFa) and interferon-gamma (IFNg).
SUBCELLULAR LOCATION: Nucleus. Cytoplasm (By similarity). Note=Accumulates in aggresomes under proteasome inhibition conditions.
TISSUE SPECIFICITY: Constitutively expressed in mature dendritic cells and B-cells. Mostly expressed in the reticuloendothelial system (e.g. thymus, spleen), the gastrointestinal system, kidney, lung and prostate gland.
INDUCTION: Rapidly degraded by the proteasome. Cell-cycle regulation with highest expression during the S-phase (at protein level). Induced during dendritic cell maturation. Negatively regulated by p53/TP53. High levels in various gastrointestinal and gynecological cancer cells. Induced in RTECs in common renal diseases including diabetic nephropathy (DN), IgA nephropathy (IgAN), and hypertensive nephrosclerosis (HN), as well as in hepatocellular carcinoma (HCC) and during HIVAN. Inducible by the proinflammatory cytokines IFNG/IFN-gamma and TNF in cancers of liver and colon. Repressed by NUB1L (at protein level).
PTM: Can be acetylated.
MISCELLANEOUS: Common types of chronic kidney disease are associated with tubulointerstitial up-regulation of FAT10. FAT10 may mediate NF-kappa-B activation and may promote tubulointerstitial inflammation in chronic kidney diseases.
SIMILARITY: Contains 2 ubiquitin-like domains.

-  Primer design for this transcript
 

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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.
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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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): UBD
CDC HuGE Published Literature: UBD
Positive Disease Associations: Behcet Syndrome
Related Studies:
  1. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]

-  MalaCards Disease Associations
  MalaCards Gene Search: UBD
Diseases sorted by gene-association score: kidney disease (6), hepatocellular carcinoma (3)

-  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: 4.36 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 23.19 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -53.30224-0.238 Picture PostScript Text
3' UTR -62.20268-0.232 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
IPR000626 - Ubiquitin
IPR019956 - Ubiquitin_subgr
IPR019955 - Ubiquitin_supergroup

Pfam Domains:
PF00240 - Ubiquitin family
PF14560 - Ubiquitin-like domain

SCOP Domains:
54236 - Ubiquitin-like

ModBase Predicted Comparative 3D Structure on O15205
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-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0070628 proteasome binding

Biological Process:
GO:0006508 proteolysis
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0016567 protein ubiquitination
GO:0032446 protein modification by small protein conjugation
GO:0034341 response to interferon-gamma
GO:0034612 response to tumor necrosis factor
GO:0043011 myeloid dendritic cell differentiation
GO:0043065 positive regulation of apoptotic process
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043687 post-translational protein modification
GO:0070842 aggresome assembly
GO:1901990 regulation of mitotic cell cycle phase transition

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016235 aggresome


-  Descriptions from all associated GenBank mRNAs
  KJ898236 - Synthetic construct Homo sapiens clone ccsbBroadEn_07630 UBD gene, encodes complete protein.
Y12653 - H.sapiens mRNA for diubiquitin.
BC012472 - Homo sapiens ubiquitin D, mRNA (cDNA clone MGC:21200 IMAGE:4517233), complete cds.
AF123050 - Homo sapiens ubiquitin-like protein FAT10 (FAT10) mRNA, complete cds.
BC051463 - Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1, mRNA (cDNA clone IMAGE:5299098), **** WARNING: chimeric clone ****.
LC420317 - Homo sapiens FAT10 mRNA for ubiquitin-like protein FAT10, complete cds.
AK311914 - Homo sapiens cDNA, FLJ92181, highly similar to Homo sapiens ubiquitin D (UBD), mRNA.
CU680336 - Synthetic construct Homo sapiens gateway clone IMAGE:100017948 5' read UBD mRNA.
DQ894624 - Synthetic construct Homo sapiens clone IMAGE:100009084; FLH177018.01L; RZPDo839C02123D ubiquitin D (UBD) gene, encodes complete protein.

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

Protein O15205 (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

-  Other Names for This Gene
  Alternate Gene Symbols: B0UZT6, FAT10, NM_006398, NP_006389, O15205, Q5STL2, Q5SUK2, Q96EC7, UBD_HUMAN
UCSC ID: uc003nmo.3
RefSeq Accession: NM_006398
Protein: O15205 (aka UBD_HUMAN)
CCDS: CCDS4662.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006398.3
exon count: 2CDS single in 3' UTR: no RNA size: 1006
ORF size: 498CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1047.00frame shift in genome: no % Coverage: 98.41
has start codon: yes stop codon in genome: no # of Alignments: 7
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.