|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:HNRPA1
gptkb:hnRNP_A1
RNPA1
|
|
gptkbp:alternativeSplicing
|
produces multiple transcript variants
|
|
gptkbp:associatedWith
|
gptkb:multisystem_proteinopathy
amyotrophic lateral sclerosis
|
|
gptkbp:encodes
|
Heterogeneous nuclear ribonucleoprotein A1 protein
|
|
gptkbp:Entrez_Gene_ID
|
3178
ENSG00000135486
|
|
gptkbp:expressedIn
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:fullName
|
gptkb:heterogeneous_nuclear_ribonucleoprotein_A1
|
|
gptkbp:function
|
RNA binding
mRNA transport
alternative splicing regulation
|
|
gptkbp:GO_term
|
GO:0003723 (RNA binding)
GO:0008380 (RNA splicing)
|
|
gptkbp:HGNC_ID
|
5037
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HNRNPA1 gene
|
|
gptkbp:interactsWith
|
gptkb:SMN1
gptkb:SRSF1
U2AF2
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12
12q13.13
|
|
gptkbp:mutationAssociatedWith
|
linked to neurodegenerative diseases
|
|
gptkbp:OMIM
|
164017
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Hnrnpa1
|
|
gptkbp:proteinFamily
|
hnRNP A/B family
|
|
gptkbp:UniProtID
|
gptkb:P09651
|
|
gptkbp:bfsParent
|
gptkb:HNRNPA1
gptkb:NP_060551.2
|
|
gptkbp:bfsLayer
|
7
|