Version 5.4
Homo sapiens Gene: LEPREL1
Summary
InnateDB Gene IDBG-69605.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LEPREL1
Gene Name leprecan-like 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000090530
Encoded Proteins
IDBP-69607
leprecan-like 1
IDBP-386590
leprecan-like 1
IDBP-386593
leprecan-like 1
IDBP-386595
leprecan-like 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:189956728-190122437
Strand Reverse strand
Band q28
Transcripts
ENST00000319332 ENSP00000316881
ENST00000427335 ENSP00000408947
ENST00000444866 ENSP00000391374
ENST00000426003 ENSP00000394326
ENST00000490940
ENST00000463171
ENST00000467131
ENST00000482780
ENST00000470925
ENST00000475095
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005506 iron ion binding
GO:0016491 oxidoreductase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016706 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
GO:0019797 procollagen-proline 3-dioxygenase activity
GO:0031418 L-ascorbic acid binding
Biological Process
GO:0008285 negative regulation of cell proliferation
GO:0019511 peptidyl-proline hydroxylation
GO:0030198 extracellular matrix organization
GO:0032963 collagen metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005604 basement membrane
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005794 Golgi apparatus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000038168
View Gene Order
ENSBTAG00000021025
Not yet available
Pathways
NETPATH
REACTOME
REACT_121139
Collagen biosynthesis and modifying enzymes pathway
REACT_118779
Extracellular matrix organization pathway
REACT_120729
Collagen formation pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.374191
RefSeq NM_001134418 NM_018192
HUGO
OMIM
CCDS CCDS3294 CCDS46981
HPRD 17270
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca