|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:OTTHUMP00000021264
gptkb:PMX1
gptkb:PRL1
gptkb:PRL
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:pre-B-cell_acute_lymphoblastic_leukemia
congenital anomalies of the kidney and urinary tract
|
|
gptkbp:biologicalProcess
|
cell differentiation
transcription regulation
organ development
sequence-specific DNA binding
|
|
gptkbp:discoveredIn
|
1988
|
|
gptkbp:encodes
|
gptkb:Pre-B-cell_leukemia_transcription_factor_1
|
|
gptkbp:Entrez_Gene_ID
|
5087
ENSG00000185630
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
hematopoietic cells
|
|
gptkbp:formsFusionGeneWith
|
gptkb:TCF3-PBX1
|
|
gptkbp:function
|
transcription factor
|
|
gptkbp:gene
|
gptkb:PBX1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:8636
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PBX1 gene
|
|
gptkbp:interactsWith
|
gptkb:PBX2
gptkb:PBX3
gptkb:HOX_proteins
gptkb:MEIS1
|
|
gptkbp:length
|
9 exons
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1q23.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Wilms_tumor
renal hypoplasia
|
|
gptkbp:OMIM
|
176310
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Pbx1
|
|
gptkbp:proteinFamily
|
gptkb:TALE/PBX_homeobox_family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
DNA binding
|
|
gptkbp:significance
|
tumor suppressor
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:translocationPartner
|
t(1;19)(q23;p13.3)
|
|
gptkbp:UniProtID
|
P40424
|
|
gptkbp:bfsParent
|
gptkb:Pre-B-cell_leukemia_homeobox_protein
|
|
gptkbp:bfsLayer
|
6
|