|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
P4H-ALPHA-1
procollagen-proline, 2-oxoglutarate 4-dioxygenase subunit alpha-1
|
|
gptkbp:associatedWith
|
collagen biosynthesis
extracellular matrix organization
|
|
gptkbp:biologicalProcess
|
collagen metabolic process
procollagen-proline 4-dioxygenase activity
|
|
gptkbp:cellularComponent
|
gptkb:endoplasmic_reticulum
|
|
gptkbp:encodes
|
prolyl 4-hydroxylase subunit alpha-1
|
|
gptkbp:Entrez_Gene_ID
|
5033
ENSG00000122884
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:function
|
catalyzes formation of 4-hydroxyproline in collagens
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:8542
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
P4HA1
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_10
|
|
gptkbp:mutationAssociatedWith
|
Ehlers-Danlos syndrome
|
|
gptkbp:OMIM
|
176710
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
P4ha1
|
|
gptkbp:proteinFamily
|
prolyl 4-hydroxylase alpha subunits
|
|
gptkbp:UniProtID
|
P13674
|
|
gptkbp:bfsParent
|
gptkb:prolyl_hydroxylase
|
|
gptkbp:bfsLayer
|
8
|