|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alternativeName
|
RLIM
|
|
gptkbp:associatedWith
|
Tonne-Kalscheuer syndrome
|
|
gptkbp:discoveredBy
|
Bach I et al.
|
|
gptkbp:discoveredIn
|
1999
|
|
gptkbp:domain
|
RING finger domain
Nuclear localization signal
|
|
gptkbp:encodes
|
E3 ubiquitin-protein ligase RNF12
|
|
gptkbp:Entrez_Gene_ID
|
51132
ENSG00000102057
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
E3 ubiquitin-protein ligase RNF12
|
|
gptkbp:function
|
gptkb:X-chromosome_inactivation
regulation of transcription
E3 ubiquitin ligase activity
|
|
gptkbp:gene
|
gptkb:RNF12
|
|
gptkbp:geneType
|
protein-coding
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RNF12
|
|
gptkbp:interactsWith
|
gptkb:SMAD7
histone deacetylases
|
|
gptkbp:length
|
600
|
|
gptkbp:locatedOnChromosome
|
Xq13.2
|
|
gptkbp:molecularWeight
|
68 kDa
|
|
gptkbp:mutationAssociatedWith
|
intellectual disability
|
|
gptkbp:OMIM
|
300379
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Rnf12
|
|
gptkbp:pathway
|
gptkb:X-chromosome_inactivation
ubiquitin-mediated proteolysis
transcriptional regulation
|
|
gptkbp:postTranslationalModification
|
phosphorylation
ubiquitination
|
|
gptkbp:proteinFamily
|
RING finger proteins
|
|
gptkbp:regulates
|
SMAD7 degradation
Xist expression
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:UniProtID
|
Q9NVW2
|
|
gptkbp:bfsParent
|
gptkb:Ring_finger_proteins
gptkb:RING_finger_E3_ligases
gptkb:RING_finger_domain_proteins
gptkb:Xist_RNA
|
|
gptkbp:bfsLayer
|
8
|