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Rabbit Anti-DORFIN/FITC Conjugated antibody
background:
Dorfin is a multi-pass membrane, RING-IBR type, E3 ubiquitin-protein ligase. It is widely expressed with highest levels found in heart and ubiquitous expression throughout the central nervous system. Dorfin functions by accepting ubiquitin in the form of a thioester from UBCH7 and UBC8 and then transferring it to the targeted substrates. Dorfin is responsible for ubiquitylating synphilin-1, CaSR and mutant variants of SOD-1, a protein at fault for familial ALS (amyotrophic lateral sclerosis). Dorfin physically interacts with VCP (Valosin-containing protein) via its SLCterminus. Together these two proteins are associated with the formation of ubiquitylated inclusions (UBIs) that characterize many neurodegenerative disorders, such as Parkinson’s disease and ALS. This association with UBIs suggests that Dorfin plays an important role in the disease process.
Function:
E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection.
Subcellular Location:
Membrane. Cytoplasm.
Tissue Specificity:
Widely expressed, with highest levels in heart. Ubiquitously expressed in the central nervous system.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
Similarity:
Belongs to the RBR family. RNF19 subfamily.
Contains 1 IBR-type zinc finger.
Contains 2 RING-type zinc fingers.
Database links:
Entrez Gene: 25897 Human
Entrez Gene: 30945 Mouse
Entrez Gene: 654326 Pig
Entrez Gene: 36580 Rat
Entrez Gene: 540195 Cow
Entrez Gene: 475049 Dog
NCBI: 35493782 Human
Omim: 607119 Human
SwissProt: Q9NV58 Human
SwissProt: P50636 Mouse
SwissProt: Q2VJ60 Pig
Unigene: 292882 Human
Unigene: 5181 Mouse
Unigene: 94631 Pig
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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