Description: Homo sapiens lumican (LUM), mRNA. RefSeq Summary (NM_002345): This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr12:91,497,232-91,505,542 Size: 8,311 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr12:91,497,942-91,502,756 Size: 4,815 Coding Exon Count: 2
ID:LUM_HUMAN DESCRIPTION: RecName: Full=Lumican; AltName: Full=Keratan sulfate proteoglycan lumican; Short=KSPG lumican; Flags: Precursor; SUBUNIT: Binds to laminin (By similarity). SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity). TISSUE SPECIFICITY: Cornea and other tissues. DEVELOPMENTAL STAGE: Present in the extracellular matrix of human articular cartilage at all ages, although its abundance is far greater in the adult. In the adult cartilage lumican exists predominantly in a glycoprotein form lacking keratan sulfate, whereas the juvenile form of the molecule is a proteoglycan. PTM: Sulfated on tyrosine residue(s). SIMILARITY: Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily. SIMILARITY: Contains 11 LRR (leucine-rich) repeats. SIMILARITY: Contains 1 LRRNT domain.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): LUM CDC HuGE Published Literature: LUM Positive Disease Associations: myopia Related Studies:
myopia Wang, I. J. et al. 2006, The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan, Mol Vis 2006 12 852-7.
[PubMed 16902402]
Our results indicate that an SNP (rs3759223), which is located in the promoter region of the lumican gene, may be worth further investigation to determine its association with development of high myopia.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 52047 - RNI-like 52058 - L domain-like 52075 - Outer arm dynein light chain 1
ModBase Predicted Comparative 3D Structure on P51884
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.