|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternative_symbols
|
gptkb:FLJ26674
gptkb:SMNC
gptkb:CUSMA
SMNT
SMN
|
|
gptkbp:associatedWith
|
gptkb:spinal_muscular_atrophy_type_1
gptkb:spinal_muscular_atrophy_type_2
gptkb:spinal_muscular_atrophy_type_3
gptkb:spinal_muscular_atrophy_type_4
spinal muscular atrophy
|
|
gptkbp:clinical_test
|
genetic testing for SMA
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
gptkb:SMN_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000172062
6606
|
|
gptkbp:expressedIn
|
all tissues
|
|
gptkbp:fullName
|
gptkb:Survival_of_Motor_Neuron_1
|
|
gptkbp:gene_structure
|
contains 8 introns
contains 9 exons
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
gptkb:SMN2_gene
|
|
gptkbp:HGNC_ID
|
gptkb:SMN1
|
|
gptkbp:highest_expression
|
gptkb:spinal_cord
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SMN1 gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
294 amino acids
|
|
gptkbp:length_(genomic)
|
~20 kb
|
|
gptkbp:locatedOnChromosome
|
5
5q13.2
|
|
gptkbp:locusType
|
gene with copy number variation
|
|
gptkbp:mutationAssociatedWith
|
deletion
point mutation
conversion to SMN2
loss of function causes spinal muscular atrophy
|
|
gptkbp:numberOfExons
|
9
|
|
gptkbp:OMIM
|
600354
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Smn1
|
|
gptkbp:product
|
gptkb:SMN_protein
|
|
gptkbp:protein_function
|
RNA splicing
motor neuron survival
snRNP assembly
|
|
gptkbp:proteinFamily
|
gptkb:SMN_family
gptkb:Tudor_domain
gptkb:YG_box
|
|
gptkbp:reference_sequence_(RefSeq)
|
gptkb:NM_000344
|
|
gptkbp:UniProtID
|
gptkb:Q16637
|
|
gptkbp:bfsParent
|
gptkb:Spinal_muscular_atrophy
gptkb:Spinal_Muscular_Atrophy
|
|
gptkbp:bfsLayer
|
6
|