GenTIGS

Prolyl 3-hydroxylase 1 (P3H1) Associated conditions: 1. Osteogenesis imperfecta

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001146289.2	NP_001139761.1	NC_000001.11	(42746373..42767027, complement)	Reference GRCh38.p14 Primary Assembly	Q32P28
2	REVIEWED	NM_001243246.2	NP_001230175.1	NC_000001.11	(42746373..42767027, complement)	Reference GRCh38.p14 Primary Assembly	Q32P28
3	REVIEWED	NM_022356.4	NP_071751.3	NC_000001.11	(42746373..42767027, complement)	Reference GRCh38.p14 Primary Assembly	Q32P28
4	REVIEWED	XR_946739.3	-	NC_000001.11	(42746373..42767027, complement)	Reference GRCh38.p14 Primary Assembly	Q32P28

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 189 reference articles

Variant Information Prolyl 3-hydroxylase 1 (P3H1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Prolyl 3-hydroxylase 1 (P3H1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Prolyl 3-hydroxylase 1 (P3H1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	ND	enables	molecular_function	Function	-
2	Homo sapiens	IEA	enables	iron ion binding	Function	-
3	Homo sapiens	ISS	enables	protein binding	Function	15044469
4	Homo sapiens	ISS	contributes_to	collagen binding	Function	15044469
5	Homo sapiens	IBA	is_active_in	endoplasmic reticulum	Component	21873635
6	Homo sapiens	IDA	located_in	endoplasmic reticulum	Component	19846465 20089953
7	Homo sapiens	TAS	located_in	endoplasmic reticulum lumen	Component	-
8	Homo sapiens	IMP	involved_in	protein folding	Process	17277775
9	Homo sapiens	NAS	involved_in	negative regulation of cell population proliferation	Process	10951563
10	Homo sapiens	ISS	involved_in	positive regulation of neuron projection development	Process	-
11	Homo sapiens	HDA	located_in	membrane	Component	19946888
12	Homo sapiens	IMP	involved_in	protein hydroxylation	Process	17277775
13	Homo sapiens	IBA	enables	procollagen-proline 3-dioxygenase activity	Function	21873635
14	Homo sapiens	ISS	enables	procollagen-proline 3-dioxygenase activity	Function	15044469
15	Homo sapiens	IEA	enables	L-ascorbic acid binding	Function	-
16	Homo sapiens	IBA	involved_in	collagen metabolic process	Process	21873635
17	Homo sapiens	ISS	involved_in	collagen metabolic process	Process	15044469
18	Homo sapiens	ISS	part_of	protein-containing complex	Component	15044469
19	Homo sapiens	IMP	involved_in	regulation of protein secretion	Process	17277775
20	Homo sapiens	IMP	involved_in	protein stabilization	Process	19846465 22615817
21	Homo sapiens	IMP	involved_in	bone development	Process	17277775 22615817
22	Homo sapiens	ISS	involved_in	chaperone-mediated protein folding	Process	15044469
23	Homo sapiens	HDA	colocalizes_with	collagen-containing extracellular matrix	Component	28327460
24	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867
25	Homo sapiens	IMP	involved_in	negative regulation of post-translational protein modification	Process	17277775 22615817