|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alias
|
Abstrakt
HSPC142
|
|
gptkbp:associatedWith
|
familial AML/MDS
|
|
gptkbp:discoveredBy
|
researchers studying hematological malignancies
|
|
gptkbp:encodes
|
Probable ATP-dependent RNA helicase DDX41
|
|
gptkbp:Entrez_Gene_ID
|
54821
ENSG00000182712
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
early 2000s
|
|
gptkbp:function
|
RNA binding
ATP binding
RNA helicase activity
involved in innate immune response
|
|
gptkbp:GOProcess
|
mRNA processing
innate immune signaling
|
|
gptkbp:HGNC_ID
|
HGNC:19156
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DDX41
|
|
gptkbp:interactsWith
|
gptkb:STING
cGAS
|
|
gptkbp:length
|
622 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_5
|
|
gptkbp:molecularWeight
|
70 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:acute_myeloid_leukemia
myelodysplastic syndrome
germline
somatic
D140fs
R525H
|
|
gptkbp:OMIM
|
615415
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Ddx41
|
|
gptkbp:proteinFamily
|
gptkb:DEAD_box_protein_family
|
|
gptkbp:refSeqID
|
NM_016222
|
|
gptkbp:reviewedBy
|
gptkb:GeneReviews
gptkb:OMIM
gptkb:UniProt
|
|
gptkbp:roleInPathway
|
type I interferon production
DNA sensing pathway
|
|
gptkbp:significance
|
predisposition to hematologic malignancies
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:UniProtID
|
Q9UJV9
|
|
gptkbp:bfsParent
|
gptkb:DEAD_box_protein_family
|
|
gptkbp:bfsLayer
|
8
|