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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5033
Gene name	Prolyl 4-hydroxylase subunit alpha 1
Gene symbol	P4HA1
Synonyms (NCBI Gene)	P4HA
Chromosome	10
Chromosome location	10q22.1
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

Show/Hide all (42)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007082	hsa-miR-122-5p	Luciferase reporter assay	23178710
MIRT018997	hsa-miR-335-5p	Microarray	18185580
MIRT044845	hsa-miR-320a	CLASH	23622248
MIRT036866	hsa-miR-877-3p	CLASH	23622248
MIRT036574	hsa-miR-941	CLASH	23622248
MIRT053658	hsa-miR-145-5p	Microarray	22942087
MIRT732187	hsa-miR-30e-5p	Luciferase reporter assayqRT-PCRWestern blot	26966067
MIRT732187	hsa-miR-30e-5p	Luciferase reporter assayqRT-PCRWestern blot	26966067
MIRT1209125	hsa-miR-122	CLIP-seq
MIRT1209126	hsa-miR-1324	CLIP-seq
MIRT1209127	hsa-miR-208a	CLIP-seq
MIRT1209128	hsa-miR-208b	CLIP-seq
MIRT1209129	hsa-miR-2681	CLIP-seq
MIRT1209130	hsa-miR-3074-3p	CLIP-seq
MIRT1209131	hsa-miR-30a	CLIP-seq
MIRT1209132	hsa-miR-30b	CLIP-seq
MIRT1209133	hsa-miR-30c	CLIP-seq
MIRT1209134	hsa-miR-30d	CLIP-seq
MIRT1209135	hsa-miR-30e	CLIP-seq
MIRT1209136	hsa-miR-3140-5p	CLIP-seq
MIRT1209137	hsa-miR-3152-3p	CLIP-seq
MIRT1209138	hsa-miR-361-5p	CLIP-seq
MIRT1209139	hsa-miR-3659	CLIP-seq
MIRT1209140	hsa-miR-4432	CLIP-seq
MIRT1209141	hsa-miR-4496	CLIP-seq
MIRT1209142	hsa-miR-4705	CLIP-seq
MIRT1209143	hsa-miR-4766-5p	CLIP-seq
MIRT1209144	hsa-miR-4789-3p	CLIP-seq
MIRT1209145	hsa-miR-490-5p	CLIP-seq
MIRT1209146	hsa-miR-499-5p	CLIP-seq
MIRT1209147	hsa-miR-642b	CLIP-seq
MIRT2060074	hsa-miR-3942-3p	CLIP-seq
MIRT1209131	hsa-miR-30a	CLIP-seq
MIRT1209132	hsa-miR-30b	CLIP-seq
MIRT1209133	hsa-miR-30c	CLIP-seq
MIRT1209134	hsa-miR-30d	CLIP-seq
MIRT1209135	hsa-miR-30e	CLIP-seq
MIRT2586505	hsa-miR-1272	CLIP-seq
MIRT2586506	hsa-miR-1322	CLIP-seq
MIRT2586507	hsa-miR-4477b	CLIP-seq
MIRT2586508	hsa-miR-4517	CLIP-seq
MIRT2586509	hsa-miR-491-3p	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
SP1	Activation	21829524
USF1	Activation	16488890
USF2	Activation	16488890

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004656	Function	Procollagen-proline 4-dioxygenase activity	IBA
GO:0004656	Function	Procollagen-proline 4-dioxygenase activity	IDA	9211872
GO:0004656	Function	Procollagen-proline 4-dioxygenase activity	IEA
GO:0004656	Function	Procollagen-proline 4-dioxygenase activity	TAS	2543975
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	17500595, 30021884
GO:0005739	Component	Mitochondrion	IDA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	2543975
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016222	Component	Procollagen-proline 4-dioxygenase complex	IEA
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:0030199	Process	Collagen fibril organization	IEA
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0042802	Function	Identical protein binding	IPI	24207127
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA

MIM	HGNC	e!Ensembl
176710	8546	ENSG00000122884

P13674

Protein name

Prolyl 4-hydroxylase subunit alpha-1 (4-PH alpha-1) (EC 1.14.11.2) (Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1)

Protein function

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

PDB

1TJC , 2V5F , 2YQ8 , 4BT8 , 4BT9 , 4BTA , 4BTB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08336	P4Ha_N	24 → 155	Prolyl 4-Hydroxylase alpha-subunit, N-terminal region	Family
PF13640	2OG-FeII_Oxy_3	415 → 518	2OG-Fe(II) oxygenase superfamily	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the heart, liver, skeletal muscle, kidney, placenta, lung and pancreas. {ECO:0000269|PubMed:9211872}.

Sequence

MIWYILIIGILLPQSLAHPGFFTSIGQMTDLIHTEKDLVTSLKDYIKAEEDKLEQIKKWA
EKLDRLTSTATKDPEGFVGHPVNAFKLMKRLNTEWSELENLVLKDMSDGFISNLTIQRQY
FPNDEDQVGAAKALLRLQDTYNLDTDTISKGNLPGVKHKSFLTAEDCFELGKVAYTEADY
YHTELWMEQALRQLDEGEISTIDKVSVLDYLSYAVYQQGDLDKALLLTKKLLELDPEHQR
ANGNLKYFEYIMAKEKDVNKSASDDQSDQKTTPKKKGVAVDYLPERQKYEMLCRGEGIKM
TPRRQKKLFCRYHDGNRNPKFILAPAKQEDEWDKPRIIRFHDIISDAEIEIVKDLAKPRL
RRATISNPITGDLETVHYRISKSAWLSGYENPVVSRINMRIQDLTGLDVSTAEELQVANY
GVGGQYEPHFDFARKDEPDAFKELGTGNRIATWLFYMSDVSAGGATVFPEVGASVWPKKG
TAVFWYNLFASGEGDYSTRHAACPVLVGNKWVSNKWLHERGQEFRRPCTLSELE

Sequence length

534

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital disorder of connective tissue	Likely pathogenic	rs755867852	RCV003883231	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN SYNDROME, DOMINANT TYPE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
P4HA1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (38)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31239153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	18439917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	37161136	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases, Developmental	Bone Disease	BEFREE	28419360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28415787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24383403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31782831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	40332386	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32744303, 34564978, 35109912, 36273131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37067340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37428395	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	28419360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	16877351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	38134053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26330293, 38134053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28415787, 28964577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23423382, 25188299, 33941139, 40332386	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	37428395	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	31782831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31782831, 38134053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24383403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25115393, 28964577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28964577, 30367042, 31782831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36702290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25115393, 31782831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	28415787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31551930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19265796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33952718, 37055822	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40023306	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31239153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33415167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25115393, 28964577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	25115393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31782831	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33941139, 34599215, 35361159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31782831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30367042		★★★★★ ★☆☆☆☆ Found in Text Mining only

P4HA1 (prolyl 4-hydroxylase subunit alpha 1)