|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
ALK-5
SKR4
TSR-I
|
|
gptkbp:associatedWith
|
gptkb:Loeys-Dietz_syndrome
gptkb:hereditary_hemorrhagic_telangiectasia
various cancers
|
|
gptkbp:biologicalProcess
|
signal transduction
cell growth regulation
kinase activity
receptor activity
immune response modulation
|
|
gptkbp:chromosomeArm
|
q
|
|
gptkbp:clinical_test
|
genetic testing for Loeys-Dietz syndrome
|
|
gptkbp:discoveredBy
|
1990s
|
|
gptkbp:encodes
|
TGF-beta receptor type-1
|
|
gptkbp:Entrez_Gene_ID
|
7046
ENSG00000106799
|
|
gptkbp:expressedIn
|
many tissues
|
|
gptkbp:fullName
|
transforming growth factor beta receptor 1
|
|
gptkbp:function
|
mediates TGF-beta signaling
serine/threonine kinase receptor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:11772
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
TGFBR1 gene
|
|
gptkbp:interactsWith
|
gptkb:TGFBR2
gptkb:SMAD_proteins
|
|
gptkbp:length_(genomic)
|
~22 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:9q22
9
|
|
gptkbp:location_(GRCh38)
|
9q22.33
|
|
gptkbp:mutationAssociatedWith
|
can cause connective tissue disorders
can increase cancer risk
|
|
gptkbp:numberOfExons
|
9
|
|
gptkbp:OMIM
|
190181
|
|
gptkbp:orthologInMouse
|
Tgfbr1
|
|
gptkbp:pathway
|
gptkb:TGF-beta_signaling_pathway
|
|
gptkbp:proteinFamily
|
protein kinase domain
serine/threonine protein kinase family
GS domain
|
|
gptkbp:regulates
|
apoptosis
cell differentiation
cell proliferation
extracellular matrix production
|
|
gptkbp:reviewedBy
|
gptkb:GeneReviews
gptkb:OMIM
gptkb:UniProt
|
|
gptkbp:subcellularLocation
|
gptkb:endosome
gptkb:cell_membrane
|
|
gptkbp:UniProtID
|
P36897
|
|
gptkbp:bfsParent
|
gptkb:Loeys-Dietz_syndrome
|
|
gptkbp:bfsLayer
|
7
|