UBD (ubiquitin D)

Alias_symbol (synonym)	FAT10
Other alias	GABBR1
	UBD-3
HGNC (Hugo)	UBD
LocusID (NCBI)	10537
Atlas_Id	43742
Location	6p22.1  [Link to chromosome band 6p22]
Location_base_pair	Starts at 29555612 and ends at 29559925 bp from pter ( according to hg19-Feb_2009)  [Mapping UBD.png]
	The upper part of the diagram shows the loci of UbD, present in the MHCI locus of chromosome 6. The lower part of the diagram shows the mRNA of UBD.

Description	165 amino acids; 18 kDa protein; different post translational modifications: Acetylation, phosphorylation, ubiquitination. UBD contains 2 ubiquitin domains, with 2 potential K involved in its ubiquitination but not in its degradation. UBD contains from N-Term to C-Term, an Ubiquitin like domain (21-76) containing K55 equivalent of the K48 of ubiquitin, an ubiquitin like domain (104-165) containing K137 equivalent of the K48 of ubiquitin. In C-terminal, UBD contains a GG motif, equivalent to Ubiquitin GG motif, important for conjugating proteins: TP53, USE.
Expression	Lung, brain, kidney, liver, spleen, thymus, gut, testis, lymph nodes, uterus and ovaries.
Localisation	Nuclear and cytoplasmic.
Function	UBD is involved in the immune response (expressed in spleen, thymus, and lymph nodes, involved in immunoproteasome formation and in antigen presentation). UBD is degradated by the proteasome, independently of ubiquitin pathway, but it targets also proteins to the proteasome for degradation. UBD plays a critical role in the cell cycle pro-apoptotic (by over expression, by interacting with HIV VpR), anti-apoptotic (spleens, thymuses and bone marrow), anti-proliferative (when induced by retinoids acid), pro-proliferative (in colon and liver cancer, maybe by interacting with MAD2 and p53, cancers in liver and colon).
Homology	With Ubiquitin.

	The mutations in yellow are the missense mutation. The mutation in red is the I68T, associated with advanced stages of colorectal cancer.
Germinal	N/A
Somatic	A missense mutation was observed in the position 376 of the mRNA changing TTG in TCG (L51S). Due to this mutation the protein goes from medium size and hydrophobic to small and polar. No report showed a link between this polymorphism and a disease. A missense mutation was observed in the position 95 of the protein S95P. Due to this mutation the protein goes from small size and polar to medium size and hydrophobic. No report showed a link between this polymorphism and a disease. A missense mutation was observed in the position 99 of the protein A99G. Due to this mutation the protein goes from small size and hydrophobic to glycine. No report showed a link between this polymorphism and a disease. A missense mutation was observed in the position 120 of the protein E120K. Due to this mutation the protein goes from medium size and acidic to large size and basic. No report showed a link between this polymorphism and a disease. A missense mutation was observed in the position 160 of the protein C160S. Due to this mutation the protein goes from medium size and polar to small size and polar. No report showed a link between this polymorphism and a disease. A mutation in UBD I68T was significantly associated with advanced stages of colorectal cancer and with colorectal below 65 years of age.

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