EC Number   |
Protein Variants |
Reference |
|---|
   1.14.11.7 | D592A |
site-directed mutagenesis, the mutant is able to rescue CRTAP stability |
746168 |
| 1.14.11.7 | H590A |
site-directed mutagenesis, the mutant is able to rescue CRTAP stability. Hydroxylation status at different collagen sites in mutant mice, overview. Residue alpha1(I) K930 is 98% hydroxylated and non-glycosylated in both genotypes and alpha1(I)K87 is 92% hydroxylated in wild-type and 93% in Lepre1H662A/H662A. Collagen fibril ultrastructure, secretion rate, and steady-state levels |
746168 |
| 1.14.11.7 | H662A |
site-directed mutagenesis, generation of mutant mice, phenotype analysis, detailed overview. The mutant is able to rescue CRTAP stability, but Lepre1H662A/H662A mice lack Pro986 collagen hydroxylation |
746168 |
| 1.14.11.7 | more |
construction of P3H2-null mice, the mutants are embryonic-lethal by embryonic day 8.5. The mechanism of the unexpectedly early lethality involves the interaction of non-3-hydroxylated embryonic type IV collagen with the maternal platelet-specific glycoprotein VI (GPVI). This interaction results in maternal platelet aggregation, thrombosis of the maternal blood, and death of the embryo. The phenotype is completely rescued by producing double KOs of P3H2 and GPVI. Double nulls are viable and fertile. Epigenetic silencing of P3H2 in breast cancers implies that the interaction between GPVI and nonΒ3-hydroxylated type IV collagen might also play a role in the progression of malignant tumors and metastasis |
746295 |
| 1.14.11.7 | more |
ectopic expression of P3H2 in cells with silenced endogenous genes result in suppression of colony growth |
697017 |
| 1.14.11.7 | more |
ectopic expression of P3H3 in cells with silenced endogenous genes result in suppression of colony growth |
697017 |
| 1.14.11.7 | more |
generation of mutant mice with mutations in LEPREL1, the gene encoding prolyl 3-hydroxylase-2 (P3H2), causing severe nonsyndromic myopia, phenotype, overview |
745337 |
| 1.14.11.7 | more |
identification of LEPRE1 22 mutant alleles, e.g. the most frequent recurring mutation, IVS5+1G-T, c.1080+1G-T, causing a splice site defect, overview. Enzyme defects lead to lack of 3-hydroxylation of the Pro986 residue. Defects in the genes encoding cartilage-associated protein, CRTAP, or prolyl 3-hydroxylase 1, P3H1/LEPRE1, cause the classical osteogenesis imperfecta, OI, a dominant genetic disorder of connective tissue, overview. Patients with mutations in CRTAP or LEPRE1 have a lethal to severe osteochondrodystrophy that overlaps with Sillence types II and III classical osteogenesis imperfecta but has distinctive features, mechanisms, overview |
697192 |
| 1.14.11.7 | more |
null mutation of the prolyl 3-hydroxylase 1, P3H1/LEPRE1, gene cause OI type VIII, a recessive form of osteogenesis imperfecta with severe to lethal bone dysplasia and overmodification of the type I collagen helical region, interaction of complex components in fibroblasts, overview. P3H1 is mutually stabilized in the collagen prolyl 3-hydroxylation complex. Both P3H1 and CRTAP proteins are absent in CRTAP-null fibroblasts. Conversely, in LEPRE1-null fibroblasts, P3H1 protein is absent, while CRTAP is only minimally detectable |
698181 |
| 1.14.11.7 | more |
P3H1s mutants H590A, D592A, H662A, or R672A are able to restore the stability of CRTAP in cell culture |
746168 |
