Bos taurus Gene: LEPREL1 | |||||||||||||||
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Summary | |||||||||||||||
InnateDB Gene | IDBG-634523.3 | ||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||
Gene Symbol | LEPREL1 | ||||||||||||||
Gene Name | prolyl 3-hydroxylase 2 precursor | ||||||||||||||
Synonyms | |||||||||||||||
Species | Bos taurus | ||||||||||||||
Ensembl Gene | ENSBTAG00000021025 | ||||||||||||||
Encoded Proteins |
prolyl 3-hydroxylase 2
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Protein Structure | |||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||
Entrez Gene | |||||||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000090530:
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] |
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Gene Information | |||||||||||||||
Type | Protein coding | ||||||||||||||
Genomic Location | Chromosome 1:77752546-77932253 | ||||||||||||||
Strand | Forward strand | ||||||||||||||
Band | |||||||||||||||
Transcripts |
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Interactions | |||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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Pathway Predictions based on Human Orthology Data | |||||||||||||||
NETPATH | |||||||||||||||
REACTOME |
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Collagen formation pathway
Collagen formation pathway
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
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KEGG | |||||||||||||||
INOH | |||||||||||||||
PID NCI | |||||||||||||||
Cross-References | |||||||||||||||
SwissProt | |||||||||||||||
TrEMBL | A6QLY3 | ||||||||||||||
UniProt Splice Variant | |||||||||||||||
Entrez Gene | 511799 | ||||||||||||||
UniGene | Bt.30683 | ||||||||||||||
RefSeq | NM_001100345 XM_005201471 XM_005201472 | ||||||||||||||
HUGO | |||||||||||||||
OMIM | |||||||||||||||
CCDS | |||||||||||||||
HPRD | |||||||||||||||
IMGT | |||||||||||||||
EMBL | BC148129 DAAA02001802 DAAA02001803 | ||||||||||||||
GenPept | AAI48130 | ||||||||||||||
RNA Seq Atlas | 511799 | ||||||||||||||