Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
UBE2D1 ubiquitin conjugating enzyme E2 D1	SFT , UBCH5 , UBC4/5 , UBCH5A , E2(17)KB1	Homo sapiens	7	protein-coding	UBE2F , UBE2M , UBE2J1 , UBE2H , UBE2K , UBE2J2 , UBE2V2 , UBE2V1 , UBE2T , UBE2C , UBE2W , UBE2L6 , UBE2L5 , UBE2L3 , UBE2D3 , UBE2D2 , UBE2D4 , UBE2E2 , UBE2E3 , UBE2E1 , UBE2Q1 , UBE2Q2 , UBE2QL1 , AKTIP , UBE2NL , UBE2N , UBE2S	2.3.2.23 , 2.3.2.24	602961

Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

GeneOntology

Function (1)

Go ID	Value	Evidence
0005524	enables ATP binding	IEA

Component (5)

Go ID	Value	Evidence
0005737	located_in cytoplasm	IDA
0005829	located_in cytosol	TAS
0005654	located_in nucleoplasm	TAS
0005634	is_active_in nucleus	IBA
0032991	part_of protein-containing complex	IDA

Process (11)

Go ID	Value	Evidence
0030514	involved_in negative regulation of BMP signaling pathway	TAS
1904262	involved_in negative regulation of TORC1 signaling	IDA
0000122	involved_in negative regulation of transcription by RNA polymerase II	TAS
1902916	involved_in positive regulation of protein polyubiquitination	IEA
0031398	involved_in positive regulation of protein ubiquitination	IDA
0043161	involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA
0070936	involved_in protein K48-linked ubiquitination	IBA
0070936	involved_in protein K48-linked ubiquitination	IDA
0000209	involved_in protein polyubiquitination	IDA
0006511	involved_in ubiquitin-dependent protein catabolic process	IBA
0006511	involved_in ubiquitin-dependent protein catabolic process	IDA

Gene Loss events - UBE2D1 (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_9BYM10	Physeter catodon	Artiodactyla	Other	Full	No	10.1007/s12041-021-01333-y