|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
spinal muscular atrophy
|
|
gptkbp:encodedBy
|
gptkb:SMN1_gene
gptkb:SMN2_gene
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:fullName
|
Survival of Motor Neuron protein
|
|
gptkbp:function
|
RNA splicing
snRNP assembly
|
|
gptkbp:GO
|
GO:0003723
GO:0005681
GO:0006397
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SMN protein
|
|
gptkbp:interactsWith
|
gptkb:SMN_complex
gptkb:Gemin2
gptkb:Gemin3
gptkb:Gemin4
gptkb:Gemin5
gptkb:Gemin6
gptkb:Gemin8
Gemin7
|
|
gptkbp:locatedOnChromosome
|
chromosome 5q13.2
|
|
gptkbp:location
|
gptkb:nucleus
gptkb:cytoplasm
gptkb:Cajal_bodies
|
|
gptkbp:molecularWeight
|
38 kDa
|
|
gptkbp:mutationAssociatedWith
|
causes spinal muscular atrophy
|
|
gptkbp:OMIM
|
600354
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Drosophila_melanogaster
|
|
gptkbp:PDB
|
4GLI
|
|
gptkbp:postTranslationalModification
|
phosphorylation
ubiquitination
|
|
gptkbp:reviewedBy
|
gptkb:GeneCards
gptkb:NCBI_Gene
gptkb:OMIM
gptkb:UniProt
gptkb:Ensembl
|
|
gptkbp:structure
|
contains Tudor domain
contains YG box domain
|
|
gptkbp:UniProtID
|
gptkb:Q16637
|
|
gptkbp:bfsParent
|
gptkb:SMN1
|
|
gptkbp:bfsLayer
|
6
|