Type I collagen synthesis in the context of osteogenesis imperfecta (Homo sapiens)

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51-4Modified alpha1 chainEndoplasmic reticulumstressCleavage of regulatory proteinstransported from ER membranein times of ER stressUnknown crucial role during bone mineralization,hypothesized interactionwith PEDF (SERPINH1)Differentiation to osteoclastsTriple helixFrizzledStabilised fibrilsalpha1 chain withchaperonesGolgi apparatusStabilisedtriple helixCollagen synthesisosteoblast-specific transcriptionfactor essential for bone developmentnecessary for intracellularcalcium flux and involvedin cell differentiationAlpha chains combined to form triple helixmodified alpha2 chainCytoplasmMature type I collagenRough endoplasmic reticulumCleavage of propeptides of procollagen Osteoblast differentiation(bone formation)COLGALT1CRTAPTNFSF11P4HA2WNT1P4HA1PLOD2BMP1TMEM38BSP7MIA3P4HBCOL1A1LOXTNFRSF11ALRP5Ca2+LRP6CREB3L1PPIBMBTPS1ADAMTS2COL1A2SERPINH1P3H1TNFRSF11BMBTPS2FKBP10SERPINH1K+SERPINF1IFITM5ITPR1PLOD1P3H1Triple helixCOL1A1Triple helixExtracellular spacealpha1 chain withchaperonesCa2+K+OMIM:225400Ehlers-Danlos syndrome,kyphoscoliotic type, 1OMIM:112240Cole-Carpenter syndrome 1OMIM:609220Bruck syndrome 2OMIM:259440Osteogenesis imperfecta, type IXOMIM:610682Osteogenesis imperfecta, type VIIOMIM:614856Osteogenesis imperfecta, type XIIIOMIM:616229Osteogenesis imperfecta, type XVIOMIM:301014Osteogenesis imperfecta, type XIXOMIM:259710Osteopetrosis,autosomal recessive 2OMIM:166210Osteogenesis imperfecta, type IIOMIM:259420Osteogenesis imperfecta, type IIIOMIM:166220Osteogenesis imperfecta, type IVOMIM:166200Osteogenesis imperfecta, type IOMIM:166210Osteogenesis imperfecta, type IIOMIM:259420Osteogenesis imperfecta, type IIIOMIM:166220Osteogenesis imperfecta, type IVOMIM:114000Caffey diseaseOMIM:613848Osteogenesis imperfecta, type XOMIM:613848Osteogenesis imperfecta, type XOMIM:610968Osteogenesis imperfecta, type XIOMIM:259450Bruck syndrome 1OMIM:610967Osteogenesis imperfecta, type VOMIM:613849Osteogenesis imperfecta, type XIIOMIM:615220Osteogenesis imperfecta, type XVOMIM:174810Familial Expansile OsteolysisOMIM:166710OsteoporosisOMIM:612301Osteopetrosis, Autosomal Recessive 7OMIM:144750Endosteal Hyperostosis, Autosomal DominantOMIM:224300DysosteosclerosisOMIM:259770Osteoporosis-Pseudoglioma SyndromeOMIM:615066Osteogenesis Imperfecta, Type XIVP3H2OMIM:239000Paget disease of bone 5, juvenile-onsetOMIM:610915Osteogenesis imperfecta, type VIIIOMIM:613982Osteogenesis imperfecta, type VI


Description

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Ontology Terms

 

Bibliography

  1. Weis MA, Hudson DM, Kim L, Scott M, Wu JJ, Eyre DR; ''Location of 3-hydroxyproline residues in collagen types I, II, III, and V/XI implies a role in fibril supramolecular assembly.''; J Biol Chem, 2010 PubMed Europe PMC Scholia
  2. Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O; ''Osteogenesis imperfecta.''; Nat Rev Dis Primers, 2017 PubMed Europe PMC Scholia
  3. Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B; ''CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.''; Cell, 2006 PubMed Europe PMC Scholia
  4. Forlino A, Cabral WA, Barnes AM, Marini JC; ''New perspectives on osteogenesis imperfecta.''; Nat Rev Endocrinol, 2011 PubMed Europe PMC Scholia
  5. Vranka JA, Sakai LY, Bächinger HP; ''Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes.''; J Biol Chem, 2004 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
129375view09:47, 27 March 2024MkutmonOntology Term : 'PW:0000002' removed !
129374view09:46, 27 March 2024MkutmonOntology Term : 'classic metabolic pathway' added !
129373view09:45, 27 March 2024MkutmonOntology Term : 'disease pathway' added !
128202view01:55, 29 January 2024EweitzSoften disease color
117852view15:19, 22 May 2021EweitzModified title
110981view14:41, 25 June 2020EgonwReplaced another two mim-conversion by mim-translocation
110651view10:13, 25 May 2020RleeFixed an unconnected line.
110645view10:03, 24 May 2020Azanklfixed some errors
110642view06:22, 24 May 2020AzanklModified description
110260view15:25, 30 April 2020EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
109333view23:34, 13 March 2020KhanspersOntology Term : 'osteogenesis imperfecta' added !
108833view00:44, 1 February 2020RleeModified description
108832view00:42, 1 February 2020RleeModified description
108829view21:54, 31 January 2020KhanspersModified description
108815view03:02, 31 January 2020RleeModified description
108814view03:02, 31 January 2020RleeModified description
108813view03:01, 31 January 2020RleeModified description
108812view03:00, 31 January 2020RleeModified description
108811view02:56, 31 January 2020RleeModified description
108810view02:53, 31 January 2020RleeNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ADAMTS2GeneProductENSG00000087116 (Ensembl)
BMP1GeneProductENSG00000168487 (Ensembl)
COL1A1GeneProductENSG00000108821 (Ensembl)
COL1A2GeneProductENSG00000164692 (Ensembl)
COLGALT1GeneProductENSG00000130309 (Ensembl)
CREB3L1GeneProductENSG00000157613 (Ensembl)
CRTAPGeneProductENSG00000170275 (Ensembl)
Ca2+MetaboliteCHEBI:3308 (ChEBI)
FKBP10GeneProductENSG00000141756 (Ensembl)
IFITM5GeneProductENSG00000206013 (Ensembl)
ITPR1GeneProductENSG00000150995 (Ensembl)
K+MetaboliteCHEBI:8345 (ChEBI)
LOXGeneProductENSG00000113083 (Ensembl)
LRP5GeneProductENSG00000162337 (Ensembl)
LRP6GeneProductENSG00000070018 (Ensembl)
MBTPS1GeneProductENSG00000140943 (Ensembl)
MBTPS2GeneProductENSG00000012174 (Ensembl)
MIA3GeneProductENSG00000154305 (Ensembl)
P3H1GeneProductENSG00000117385 (Ensembl)
P3H2GeneProductENSG00000090530 (Ensembl)
P4HA1GeneProductENSG00000122884 (Ensembl)
P4HA2GeneProductENSG00000072682 (Ensembl)
P4HBGeneProductENSG00000185624 (Ensembl)
PLOD1GeneProductENSG00000083444 (Ensembl)
PLOD2GeneProductENSG00000152952 (Ensembl)
PPIBGeneProductENSG00000166794 (Ensembl)
SERPINF1GeneProductENSG00000132386 (Ensembl)
SERPINH1GeneProductENSG00000149257 (Ensembl)
SP7GeneProductENSG00000170374 (Ensembl)
TMEM38BGeneProductENSG00000095209 (Ensembl)
TNFRSF11AGeneProductENSG00000141655 (Ensembl)
TNFRSF11BGeneProductENSG00000164761 (Ensembl)
TNFSF11GeneProductENSG00000120659 (Ensembl)
WNT1GeneProductENSG00000125084 (Ensembl)

Annotated Interactions

No annotated interactions

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