| 628823 | P3h1 | prolyl 3-hydroxylase 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); iron ion binding (inferred); L-ascorbic acid binding (inferred); INVOLVED IN positive regulation of neuron projection development; bone development (ortholog); collagen fibril organization (ortholog); ASSOCIATED WITH BCARD syndrome (or tholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN basement membrane; cytoplasm (ortholog); endoplasmic reticulum (ortholog); INTERACTS WITH 1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine; 2,3,7,8-tetrachlorodibenzodioxine; ammonium chloride | 5 | 138127240 | 138141974 | Rat | 113 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 732133 | P3h1 | prolyl 3-hydroxylase 1 | Predicted to enable procollagen-proline 3-dioxygenase activity. Acts upstream of or within collagen fibril organization; negative regulation of cell growth; and regulation of ossification. Predicted to be located in basement membrane; cytoplasm; and nucleus. Predicted to be active in endoplasmic ret iculum. Is expressed in several structures, including alimentary system; genitourinary system; limb mesenchyme; sensory organ; and skeleton. Used to study osteogenesis imperfecta type 8. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 8. Orthologous to human P3H1 (prolyl 3-hydroxylase 1). [provided by Alliance of Genome Resources, Jul 2025] | 4 | 119090112 | 119106174 | Mouse | 149 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1602868 | P3H1 | prolyl 3-hydroxylase 1 | 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. Th ree 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] | 1 | 42746374 | 42767028 | Human | 306 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 8838317 | P3h1 | prolyl 3-hydroxylase 1 | INVOLVED IN bone development (ortholog); collagen fibril organization (ortholog); negative regulation of cell growth (ortholog); ASSOCIATED WITH BCARD syndrome (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN basement membrane (ortholog); cytoplasm (ortholog); endopl asmic reticulum (ortholog) | NW_004955537 | 2276080 | 2292303 | Chinchilla | 24 | old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 11965883 | P3H1 | prolyl 3-hydroxylase 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); iron ion binding (inferred); L-ascorbic acid binding (inferred); INVOLVED IN collagen fibril organization (ortholog); negative regulation of cell growth (ortholog); positive regulation of neuron projection development (ortholog); ASSOC IATED WITH BCARD syndrome (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN basement membrane (ortholog); cytoplasm (ortholog); nucleus (ortholog) | 1 | 42046128 | 42065718 | Bonobo | 36 | old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 12281569 | P3H1 | prolyl 3-hydroxylase 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); iron ion binding (inferred); L-ascorbic acid binding (inferred); INVOLVED IN collagen fibril organization (ortholog); negative regulation of cell growth (ortholog); positive regulation of neuron projection development (ortholog); ASSOC IATED WITH BCARD syndrome (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN basement membrane (ortholog); cytoplasm (ortholog); nucleus (ortholog) | 15 | 603436 | 621839 | Dog | 36 | old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 12716990 | P3h1 | prolyl 3-hydroxylase 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); iron ion binding (inferred); L-ascorbic acid binding (inferred); INVOLVED IN collagen fibril organization (ortholog); negative regulation of cell growth (ortholog); positive regulation of neuron projection development (ortholog); ASSOC IATED WITH BCARD syndrome (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN basement membrane (ortholog); cytoplasm (ortholog); nucleus (ortholog) | NW_004936474 | 24077270 | 24093399 | Squirrel | 36 | old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 18913635 | P3h1 | prolyl 3-hydroxylase 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); iron ion binding (inferred); L-ascorbic acid binding (inferred); INVOLVED IN bone development (ortholog); collagen fibril organization (ortholog); negative regulation of cell growth (ortholog); ASSOCIATED WITH BCARD syndrome (ortholog) ; Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN basement membrane (ortholog); cytoplasm (ortholog); nucleus (ortholog) | | | | Naked Mole-Rat | 35 | old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 14282681 | P3H1 | prolyl 3-hydroxylase 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); iron ion binding (inferred); L-ascorbic acid binding (inferred); INVOLVED IN collagen fibril organization (ortholog); negative regulation of cell growth (ortholog); positive regulation of neuron projection development (ortholog); ASSOC IATED WITH BCARD syndrome (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN basement membrane (ortholog); cytoplasm (ortholog); nucleus (ortholog) | | | | Pig | 36 | old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |