Hs01116747_cn

• Gene Symbol: P4HA1
• Assay Reference Genome Location: Chr.10:73014235 on build GRCh38
• Cytoband: 10q22.1

Target Gene Details

• Entrez Gene ID: 5033
• Gene Name: prolyl 4-hydroxylase subunit alpha 1
• Gene Aliases: P4HA
• Location: Chr.10:73007217-73096974 on Build GRCh38
• Assay Gene Location: Overlaps Intron 14 - Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P4HA1	NM_000917.3			NP_000908.2
	NM_001017962.2			NP_001017962.1
	NM_001142595.1			NP_001136067.1
	NM_001142596.1			NP_001136068.1
	AK222960.1			BAD96680.1
	AK312593.1
	BC034998.1			AAH34998.1
	CD013929.1
	CD013930.1
	M24486.1			AAA36534.1
	M24487.1			AAA36535.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv528473	Chr.10:72911853 - 73049838 on Build GRCh38	Gain	OIT3 P4HA1 PLA2G12B

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

peptidyl-proline hydroxylation to 4-hydroxy-L-proline
collagen fibril organization
oxidation-reduction process

Function(s)

procollagen-proline 4-dioxygenase activity
iron ion binding
protein binding
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
L-ascorbic acid binding