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This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
MLEC (Malectin) is a Protein Coding gene. Diseases associated with MLEC include Advanced Sleep Phase Syndrome, Familial, 1 and Congenital Disorder Of Glycosylation, Type Iib. Among its related pathways are Calnexin/calreticulin cycle and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include enzyme binding and carbohydrate binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 30021884 |
GO:0019899 | enzyme binding | IPI | 22988243 |
GO:0030246 | carbohydrate binding | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | ISS | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
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2 | Metabolism of proteins | ||
3 | Transport to the Golgi and subsequent modification | ||
4 | Calnexin/calreticulin cycle |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006457 | protein folding | TAS | -- |
GO:0043312 | neutrophil degranulation | TAS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||
SP2: | |||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MLEC 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MLEC 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MLEC 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MLEC 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mlec 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mlec 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MLEC 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MLEC 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mlec 30 |
|
||
Str.6941 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | kiaa0152-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mlec 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007950 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9257 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | F44E2.10 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8086 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1179 30 |
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2659790 | CNV | deletion | 23128226 |
esv3630929 | CNV | loss | 21293372 |
nsv1045923 | CNV | gain | 25217958 |
nsv521928 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
advanced sleep phase syndrome, familial, 1 |
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congenital disorder of glycosylation, type iib |
|
|
cerebral palsy |
|
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spinal muscular atrophy, type i |
|
|
autosomal recessive non-syndromic intellectual disability |
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|