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RING finger protein 19A; E3 ubiquitin-protein ligase RNF19A; double ring-finger protein; dorfin; p38 (RNF19A, RNF19)
Function:
- E3 ubiquitin-protein ligase
- accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 & UBE2L6 in the form of a thioester & directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR
- specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation & to neuronal protection
- protein modification; protein ubiquitination
- phosphorylated upon DNA damage, probably by ATM or ATR
- interacts with UBE2L3 & UBE2L6
- interacts with transcription factor Sp1
- interacts with VCP, CASR, SNCAIP & with some SOD1 variants which cause amyotrophic lateral sclerosis, but not with wild-type SOD1
Structure:
- belongs to the RBR family, RNF19 subfamily
- contains 1 IBR-type Zn+2 finger
- contains 2 RING-type Zn+2 fingers
Compartment:
- membrane (putative)
- cytoplasm, cytoskeleton, centrosome
Alternative splicing: named isoforms=3
Expression:
- widely expressed
- highest levels in heart
- ubiquitously expressed in the central nervous system
Pathology:
- present in hyaline inclusion bodies specifically found in motor neurons from amyotrophic lateral sclerosis patients
- present in Lewy bodies specifically found in neurons from Parkinson's disease patients
General
phosphoprotein
ring finger protein
transmembrane 2 protein
E3 ubiquitin ligase; ubiquitin-ligating enzyme E3; N end-recognizing protein
Properties
SIZE: entity length = 838 aa
MW = 91 kD
COMPARTMENT: cytoplasm
MOTIF: RING-finger {132-179}
EFFECTOR-BOUND: Zn+2
FOR-BINDING-OF: DNA motif
Zinc finger
NAME: Zinc finger
SITE: 199-264
EFFECTOR-BOUND: Zn+2
Ser phosphorylation site {S284}
Ser phosphorylation site {S288}
RING-finger {301-332}
EFFECTOR-BOUND: Zn+2
FOR-BINDING-OF: DNA motif
transmembrane domain {368-388}
transmembrane domain {424-444}
CASR interaction {660-838}
Database Correlations
OMIM 607119
UniProt Q9NV58
Pfam PF01485
Entrez Gene 25897
Kegg hsa:25897
References
UniProt :accession Q9NV58