|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
CPHD1
GHTF-1
PIT-1
PIT1
|
|
gptkbp:associatedWith
|
combined pituitary hormone deficiency
pituitary hormone deficiency, combined, 1
|
|
gptkbp:discoveredBy
|
M. G. Rosenfeld
|
|
gptkbp:encodes
|
POU domain, class 1, transcription factor 1
|
|
gptkbp:Entrez_Gene_ID
|
5449
ENSG00000137992
|
|
gptkbp:expressedIn
|
gptkb:pituitary_gland
|
|
gptkbp:function
|
transcription factor
regulates hormone expression
regulates pituitary development
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
9210
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
POU1F1
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
3p11
|
|
gptkbp:mutationAssociatedWith
|
combined pituitary hormone deficiency type 1
|
|
gptkbp:OMIM
|
173110
|
|
gptkbp:orthologInMouse
|
Pou1f1
|
|
gptkbp:proteinFamily
|
POU domain family
|
|
gptkbp:regulates
|
growth hormone (GH1)
prolactin (PRL)
thyroid-stimulating hormone beta (TSHB)
|
|
gptkbp:transcriptionFactorClass
|
gptkb:POU-homeodomain
|
|
gptkbp:UniProtID
|
P28069
|
|
gptkbp:bfsParent
|
gptkb:POU_family
|
|
gptkbp:bfsLayer
|
7
|