Hs01857628_cn

• Gene Symbol: P3H1
• Assay Reference Genome Location: Chr.1:42762371 on build GRCh38
• Cytoband: 1p34.2

Target Gene Details

• Entrez Gene ID: 64175
• Gene Name: prolyl 3-hydroxylase 1
• Gene Aliases: GROS1, LEPRE1, OI8
• Location: Chr.1:42746335-42767084 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P3H1	NM_001146289.1	2	683	NP_001139761.1
	NM_001243246.1	2	683	NP_001230175.1
	NM_022356.3	2	683	NP_071751.3
	XM_005271110.2			XP_005271167.1
	XM_011541948.1			XP_011540250.1
	XM_017002051.1	2	600	XP_016857540.1
	XM_017002052.1	2	600	XP_016857541.1
	AF097431.1	2	621	AAG31018.1
	AF097432.1	2	621	AAG31019.1
	AK027648.1	2	611	BAB55264.1
	AK027680.1	2	585	BAB55291.1
	AK027697.1	2	622	BAB55305.1
	AK075418.1	2	600	BAC11608.1
	AK297980.1	3	488
	AK300210.1	3	574
	BC108311.1	2	621	AAI08312.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3577249	Chr.1:42576524 - 42885152 on Build GRCh38	Gain	C1orf50 LOC100129924 PPIH P3H1 ERMAP CCDC30 CLDN19 ZNF691 SVBP LOC105378683 LOC339539 YBX1
nsv829682	Chr.1:42589429 - 42773568 on Build GRCh38	Loss	C1orf50 PPIH P3H1 CCDC30 CLDN19 YBX1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

extracellular matrix glycoprotein

Gene Ontology Categories:

Process(es)

protein folding
negative regulation of cell proliferation
protein hydroxylation
peptidyl-proline hydroxylation
collagen metabolic process
regulation of protein secretion
protein stabilization
oxidation-reduction process
bone development
chaperone-mediated protein folding
negative regulation of post-translational protein modification

Function(s)

molecular_function
iron ion binding
collagen binding
procollagen-proline 3-dioxygenase activity
L-ascorbic acid binding
protein complex binding