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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]
LUM (Lumican) is a Protein Coding gene. Diseases associated with LUM include Cornea Plana and Macular Dystrophy, Corneal. Among its related pathways are Degradation of the extracellular matrix and Keratan sulfate/keratin metabolism. Gene Ontology (GO) annotations related to this gene include collagen binding and extracellular matrix structural constituent. An important paralog of this gene is FMOD.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | NAS | 10892350 |
GO:0005515 | protein binding | IPI | 25304424 |
GO:0005518 | collagen binding | IBA,IDA | 10892350 |
GO:0030021 | extracellular matrix structural constituent conferring compression resistance | RCA | 20551380 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005583 | fibrillar collagen trimer | IDA | 10734230 |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005796 | Golgi lumen | TAS | -- |
GO:0031012 | extracellular matrix | TAS | 7665616 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) | ||
2 | Keratan sulfate/keratin metabolism | ||
3 | Glycosaminoglycan metabolism | ||
4 | Proteoglycans in cancer | ||
5 | HIV Life Cycle |
.45
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007601 | visual perception | TAS,IEA | -- |
GO:0014070 | response to organic cyclic compound | IEA | -- |
GO:0018146 | keratan sulfate biosynthetic process | TAS | -- |
GO:0030198 | extracellular matrix organization | TAS | -- |
GO:0030199 | collagen fibril organization | NAS | 10892350 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Target | 249 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | - | - | |||||||||||||||
SP3: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LUM 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LUM 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LUM 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lum 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lum 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | LUM 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LUM 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LUM 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LUM 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lum 30 |
|
||
Str.15551 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC64527 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lum 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs147975710 | - | p.Leu199Pro |
Disorder | Aliases | PubMed IDs |
---|---|---|
cornea plana |
|
|
macular dystrophy, corneal |
|
|
corneal dystrophy, posterior amorphous |
|
|
degenerative myopia |
|
|
corneal dystrophy |
|
|