Functions and Diseases

RBP Type Canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions N.A.
Localizations Nucleoli
BulkPerturb-seq

Description

Ensembl ID ENSG00000117385 Gene ID 64175 Accession 19316
Symbol P3H1 Alias OI8;GROS1;LEPRE1 Full Name prolyl 3-hydroxylase 1
Status Confidence Length 20750 bases Strand Minus strand
Position 1 : 42746335 - 42767084 RNA binding domain 2OG-FeII_Oxy
Summary This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000380245 2OG-FeII_Oxy PF03171 4.9e-09 1
ENSP00000236040 2OG-FeII_Oxy PF03171 5.3e-09 1
ENSP00000296388 2OG-FeII_Oxy PF03171 5.4e-09 1

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
P3H1-204 ENST00000397054 2705 697aa ENSP00000380245
P3H1-207 ENST00000460031 2726 No protein -
P3H1-202 ENST00000296388 2591 736aa ENSP00000296388
P3H1-201 ENST00000236040 2993 804aa ENSP00000236040
P3H1-214 ENST00000495874 2813 No protein -
P3H1-209 ENST00000462474 581 No protein -
P3H1-211 ENST00000472802 646 No protein -
P3H1-205 ENST00000431412 836 222aa ENSP00000408056
P3H1-208 ENST00000460831 585 No protein -
P3H1-212 ENST00000481465 728 No protein -
P3H1-206 ENST00000447502 453 No protein -
P3H1-210 ENST00000463465 897 No protein -
P3H1-203 ENST00000372526 654 207aa ENSP00000361604
P3H1-213 ENST00000492956 3001 No protein -

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0003674enables molecular_function1NDHomo_sapiens(9606)Function
GO:0005506enables iron ion binding1IEAHomo_sapiens(9606)Function
GO:0005515enables protein binding1ISSHomo_sapiens(9606)Function
GO:0005518contributes_to collagen binding1ISSHomo_sapiens(9606)Function
GO:0005783is_active_in endoplasmic reticulum2IBA,IDAHomo_sapiens(9606)Component
GO:0005788located_in endoplasmic reticulum lumen1TASHomo_sapiens(9606)Component
GO:0006457involved_in protein folding1IMPHomo_sapiens(9606)Process
GO:0008285involved_in negative regulation of cell population proliferation1NASHomo_sapiens(9606)Process
GO:0010976involved_in positive regulation of neuron projection development1ISSHomo_sapiens(9606)Process
GO:0016020located_in membrane1HDAHomo_sapiens(9606)Component
GO:0018126involved_in protein hydroxylation1IMPHomo_sapiens(9606)Process
GO:0019797enables procollagen-proline 3-dioxygenase activity2IBA,ISSHomo_sapiens(9606)Function
GO:0031418enables L-ascorbic acid binding1IEAHomo_sapiens(9606)Function
GO:0032963involved_in collagen metabolic process2IBA,ISSHomo_sapiens(9606)Process
GO:0032991part_of protein-containing complex1ISSHomo_sapiens(9606)Component
GO:0050708involved_in regulation of protein secretion1IMPHomo_sapiens(9606)Process
GO:0050821involved_in protein stabilization1IMPHomo_sapiens(9606)Process
GO:0060348involved_in bone development1IMPHomo_sapiens(9606)Process
GO:0061077involved_in chaperone-mediated protein folding1ISSHomo_sapiens(9606)Process
GO:0062023colocalizes_with collagen-containing extracellular matrix1HDAHomo_sapiens(9606)Component
GO:0070062located_in extracellular exosome1HDAHomo_sapiens(9606)Component
GO:1901874involved_in negative regulation of post-translational protein modification1IMPHomo_sapiens(9606)Process

Expression