Hs06568557_cn

• Gene Symbol: P3H1
• Assay Reference Genome Location: Chr.1:42764995 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P3H1	NM_001146289.1			NP_001139761.1
	NM_001243246.1			NP_001230175.1
	NM_022356.3			NP_071751.3
	XM_017002051.1			XP_016857540.1
	XM_017002052.1			XP_016857541.1
	AF097431.1			AAG31018.1
	AF097432.1			AAG31019.1
	AK027648.1			BAB55264.1
	AK027680.1			BAB55291.1
	AK027697.1			BAB55305.1
	AK075418.1			BAC11608.1
	AK297980.1
	AK300210.1
	BC108311.1			AAI08312.1
	DC404420.1

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	LOC100129924 ERMAP CLDN19 ZNF691 CCDC30 LOC339539 YBX1 SVBP PPIH LOC105378683 C1orf50 P3H1
nsv829682	Chr.1:42589429 - 42773568 on Build GRCh38	Loss	CLDN19 CCDC30 YBX1 PPIH C1orf50 P3H1

More Information

• Set Membership: Intragenic, Intronic, Non-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