Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:congenital_vertebral_malformations
Otofaciocervical syndrome |
| gptkbp:discoveredBy |
gptkb:Peter_Gruss
|
| gptkbp:domain |
paired box domain
|
| gptkbp:encodes |
PAX1 protein
|
| gptkbp:Entrez_Gene_ID |
ENSG00000125818
5075 |
| gptkbp:expressedIn |
pharyngeal pouches
sclerotome |
| gptkbp:fullName |
paired box 1
|
| gptkbp:function |
transcription factor
|
| gptkbp:HGNC_ID |
HGNC:8615
|
| https://www.w3.org/2000/01/rdf-schema#label |
PAX1
|
| gptkbp:involvedIn |
embryonic development
vertebral column development |
| gptkbp:locatedOnChromosome |
20p11.2
|
| gptkbp:mutationAssociatedWith |
skeletal abnormalities
|
| gptkbp:OMIM |
167411
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Pax1
|
| gptkbp:proteinFamily |
PAX gene family
|
| gptkbp:regulates |
cell proliferation
differentiation |
| gptkbp:UniProtID |
P15863
|
| gptkbp:bfsParent |
gptkb:Pax_gene_family
|
| gptkbp:bfsLayer |
8
|