InnateDB Protein
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IDBP-97254.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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LEPRE1
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Protein Name
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leucine proline-enriched proteoglycan (leprecan) 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000296388
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InnateDB Gene
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IDBG-97252 (LEPRE1)
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Protein Structure
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Function |
Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro- Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts. {ECO:0000269PubMed:10951563}.
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Subcellular Localization |
Isoform 1: Endoplasmic reticulum.Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Secreted into the extracellular matrix as a chondroitin sulfate proteoglycan (CSPG). {ECO:0000269PubMed:19088120}.
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Disease Associations |
Osteogenesis imperfecta 8 (OI8) [MIM:610915]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI8 is characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel- shaped chest. {ECO:0000269PubMed:17277775, ECO:0000269PubMed:19088120}. Note=The disease is caused by mutations affecting the gene represented in this entry. A splice site mutation leading to the absence of isoform 1 has been reported in 2 OI8 patients. Isoform 1 is the only form predicted to be located in the endoplasmic reticulum, which the appropriate location for the catalysis of collagen hydroxylation. These patients show indeed severely reduced COL1A1 hydroxylation (PubMed:19088120). {ECO:0000269PubMed:19088120}.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 51 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
51
[view]
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Protein-Protein |
51
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0003674
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molecular_function
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GO:0005506
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iron ion binding
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GO:0005518
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collagen binding
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GO:0016491
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oxidoreductase activity
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GO:0016705
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oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
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GO:0016706
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oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
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GO:0019797
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procollagen-proline 3-dioxygenase activity
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GO:0031418
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L-ascorbic acid binding
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GO:0032403
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protein complex binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR005123
Oxoglutarate/iron-dependent dioxygenase
IPR006620
Prolyl 4-hydroxylase, alpha subunit
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PFAM |
PF03171
PF13640
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PRINTS |
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PIRSF |
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SMART |
SM00702
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TIGRFAMs |
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Modification |
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SwissProt |
Q32P28
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PhosphoSite |
PhosphoSite-Q32P28
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TrEMBL |
B4DTG8
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UniProt Splice Variant |
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Entrez Gene |
64175
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UniGene |
Hs.720014
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RefSeq |
NP_071751
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HUGO |
HGNC:19316
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OMIM |
610339
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CCDS |
CCDS472
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HPRD |
11227
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IMGT |
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EMBL |
AF097431
AF097432
AK025841
AK027648
AK027680
AK027697
AK075418
AK297980
AK300210
BC015309
BC108311
BT007039
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GenPept |
AAG31018
AAG31019
AAH15309
AAI08312
AAP35688
BAB15256
BAB55264
BAB55291
BAB55305
BAC11608
BAG60290
BAG61980
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