Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	283208
Gene name	Prolyl 4-hydroxylase subunit alpha 3
Gene symbol	P4HA3
Synonyms (NCBI Gene)	-
Chromosome	11
Chromosome location	11q13.4
Summary	This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part o

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018485	hsa-miR-335-5p	Microarray	18185580
MIRT022868	hsa-miR-124-3p	Microarray	18668037
MIRT2288447	hsa-miR-181a	CLIP-seq
MIRT2288448	hsa-miR-181b	CLIP-seq
MIRT2288449	hsa-miR-181c	CLIP-seq
MIRT2288450	hsa-miR-181d	CLIP-seq
MIRT2288451	hsa-miR-4262	CLIP-seq
MIRT2586535	hsa-miR-1245b-5p	CLIP-seq
MIRT2586536	hsa-miR-1248	CLIP-seq
MIRT2586537	hsa-miR-1267	CLIP-seq
MIRT2586538	hsa-miR-1273f	CLIP-seq
MIRT2586539	hsa-miR-143	CLIP-seq
MIRT2586540	hsa-miR-2964a-5p	CLIP-seq
MIRT2586541	hsa-miR-3142	CLIP-seq
MIRT2586542	hsa-miR-3194-3p	CLIP-seq
MIRT2586543	hsa-miR-3200-5p	CLIP-seq
MIRT2586544	hsa-miR-3672	CLIP-seq
MIRT2586545	hsa-miR-3922-5p	CLIP-seq
MIRT2586546	hsa-miR-4459	CLIP-seq
MIRT2586547	hsa-miR-4695-5p	CLIP-seq
MIRT2586548	hsa-miR-4708-5p	CLIP-seq
MIRT2586549	hsa-miR-4770	CLIP-seq
MIRT2586550	hsa-miR-4778-3p	CLIP-seq
MIRT2586551	hsa-miR-485-5p	CLIP-seq
MIRT2586552	hsa-miR-665	CLIP-seq
MIRT2586535	hsa-miR-1245b-5p	CLIP-seq
MIRT2586536	hsa-miR-1248	CLIP-seq
MIRT2686990	hsa-miR-1266	CLIP-seq
MIRT2586537	hsa-miR-1267	CLIP-seq
MIRT2586538	hsa-miR-1273f	CLIP-seq
MIRT2686991	hsa-miR-1299	CLIP-seq
MIRT2586539	hsa-miR-143	CLIP-seq
MIRT2686992	hsa-miR-1972	CLIP-seq
MIRT2586540	hsa-miR-2964a-5p	CLIP-seq
MIRT2686993	hsa-miR-3121-5p	CLIP-seq
MIRT2686994	hsa-miR-3140-3p	CLIP-seq
MIRT2586541	hsa-miR-3142	CLIP-seq
MIRT2686995	hsa-miR-3160-5p	CLIP-seq
MIRT2686996	hsa-miR-3183	CLIP-seq
MIRT2586542	hsa-miR-3194-3p	CLIP-seq
MIRT2586543	hsa-miR-3200-5p	CLIP-seq
MIRT2686997	hsa-miR-324-5p	CLIP-seq
MIRT2686998	hsa-miR-326	CLIP-seq
MIRT2686999	hsa-miR-330-5p	CLIP-seq
MIRT2687000	hsa-miR-3664-3p	CLIP-seq
MIRT2586544	hsa-miR-3672	CLIP-seq
MIRT2586545	hsa-miR-3922-5p	CLIP-seq
MIRT2687001	hsa-miR-3978	CLIP-seq
MIRT2687002	hsa-miR-4279	CLIP-seq
MIRT2687003	hsa-miR-4318	CLIP-seq
MIRT2586546	hsa-miR-4459	CLIP-seq
MIRT2687004	hsa-miR-4518	CLIP-seq
MIRT2687005	hsa-miR-4539	CLIP-seq
MIRT2687006	hsa-miR-4650-5p	CLIP-seq
MIRT2687007	hsa-miR-4667-3p	CLIP-seq
MIRT2687008	hsa-miR-4680-5p	CLIP-seq
MIRT2687009	hsa-miR-4693-5p	CLIP-seq
MIRT2586547	hsa-miR-4695-5p	CLIP-seq
MIRT2586548	hsa-miR-4708-5p	CLIP-seq
MIRT2687010	hsa-miR-4723-3p	CLIP-seq
MIRT2586549	hsa-miR-4770	CLIP-seq
MIRT2586550	hsa-miR-4778-3p	CLIP-seq
MIRT2586551	hsa-miR-485-5p	CLIP-seq
MIRT2687011	hsa-miR-508-5p	CLIP-seq
MIRT2687012	hsa-miR-642a	CLIP-seq
MIRT2586552	hsa-miR-665	CLIP-seq
MIRT2687013	hsa-miR-875-3p	CLIP-seq
MIRT2687014	hsa-miR-892a	CLIP-seq
MIRT2687015	hsa-miR-942	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004656	Function	Procollagen-proline 4-dioxygenase activity	IBA
GO:0004656	Function	Procollagen-proline 4-dioxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 26871637, 31515488, 32296183
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0030199	Process	Collagen fibril organization	IBA
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA

MIM	HGNC	e!Ensembl
608987	30135	ENSG00000149380

Q7Z4N8

Protein name

Prolyl 4-hydroxylase subunit alpha-3 (4-PH alpha-3) (EC 1.14.11.2) (Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-3)

Protein function

Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08336	P4Ha_N	33 → 161	Prolyl 4-Hydroxylase alpha-subunit, N-terminal region	Family
PF13640	2OG-FeII_Oxy_3	426 → 528	2OG-Fe(II) oxygenase superfamily	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in placenta, liver and fetal skin. Weakly expressed in fetal epiphyseal cartilage, fetal liver, fibroblast, lung and skeletal muscle. Expressed also in fibrous cap of carotid atherosclerotic lesions. {ECO:0000269|PubMe

Sequence

MGPGARLAALLAVLALGTGDPERAAARGDTFSALTSVARALAPERRLLGLLRRYLRGEEA
RLRDLTRFYDKVLSLHEDSTTPVANPLLAFTLIKRLQSDWRNVVHSLEASENIRALKDGY
EKVEQDLPAFEDLEGAARALMRLQDVYMLNVKGLARGVFQRVTGSAITDLYSPKRLFSLT
GDDCFQVGKVAYDMGDYYHAIPWLEEAVSLFRGSYGEWKTEDEASLEDALDHLAFAYFRA
GNVSCALSLSREFLLYSPDNKRMARNVLKYERLLAESPNHVVAEAVIQRPNIPHLQTRDT
YEGLCQTLGSQPTLYQIPSLYCSYETNSNAYLLLQPIRKEVIHLEPYIALYHDFVSDSEA
QKIRELAEPWLQRSVVASGEKQLQVEYRISKSAWLKDTVDPKLVTLNHRIAALTGLDVRP
PYAEYLQVVNYGIGGHYEPHFDHATSPSSPLYRMKSGNRVATFMIYLSSVEAGGATAFIY
ANLSVPVVRNAALFWWNLHRSGEGDSDTLHAGCPVLVGDKWVANKWIHEYGQEFRRPCSS
SPED

Sequence length

544

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Metabolic pathways		Collagen biosynthesis and modifying enzymes

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	27809802, 39863086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32737333	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32953885, 35433237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	25779936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30198421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30198421		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30452903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31627190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	31627190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30198421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30198421, 37957566, 39362976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

P4HA3 (prolyl 4-hydroxylase subunit alpha 3)