Search results for GLA

Showing 14 results out of 27

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Species

Types

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Reaction types

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Protein (4 results from a total of 12)

GLA

Identifier: R-HSA-1605763
Species: Homo sapiens
Compartment: lysosomal lumen
Primary external reference: UniProt: GLA: P06280

GLA

Identifier: R-HSA-6798777
Species: Homo sapiens
Compartment: azurophil granule lumen
Primary external reference: UniProt: GLA: P06280

GLA

Identifier: R-HSA-6806179
Species: Homo sapiens
Compartment: extracellular region
Primary external reference: UniProt: GLA: P06280
Identifier: R-HSA-6807212
Species: Homo sapiens
Compartment: endoplasmic reticulum lumen
Primary external reference: UniProt: BGLAP: P02818

Chemical Compound (2 results from a total of 2)

GLA

Identifier: R-ALL-400528
Compartment: extracellular region
Primary external reference: ChEBI: gamma-linolenic acid: 28661
Identifier: R-ALL-2046042
Compartment: endoplasmic reticulum lumen
Primary external reference: ChEBI: gamma-linolenoyl-CoA: 15508

Complex (1 results from a total of 1)

Identifier: R-HSA-1605744
Species: Homo sapiens
Compartment: lysosomal lumen

Reaction (4 results from a total of 9)

Identifier: R-HSA-1605736
Species: Homo sapiens
Compartment: lysosomal lumen
Alpha-galactosidase A (GLA) (Bishop et al. 1986) removes the terminal galactose residue from glycolipids or glycoproteins, mobilized by PSAP(195-273) (Saposin B), resulting in galactose and an alcohol. An example is the Fabry disease substrate globotriaosylceramide (Gb3Cer) which is hydrolysed to form galactose and lactosylceramide. GLA functions as a homodimer (Garman & Garboczi 2004) and defects in this enzyme lead to Fabry disease (FD) (MIM:301500), a rare X-linked sphingolipidosis disease where glycolipids such as Gb3Cer accumulate in many tissues (Garman & Garboczi 2004, Eng et al. 1993, Shabeer et al. 2006). Researchers also observed elevated Gb3Cer in prosaposin deficiency (PSAPD, MIM: 611721) cases, a rare disease with low levels of all saposins. Saposin B (PSAP(195-273)) is an essential cofactor to the reaction (Bradova et al., 1993).
Identifier: R-HSA-9841189
Species: Homo sapiens
Compartment: lysosomal lumen
Alpha-galactosidase A (GLA) (Bishop et al. 1986) removes the terminal galactose residue from glycolipids or glycoproteins, mobilized by PSAP(195-273) (Saposin B), resulting in galactose and an alcohol. An example is the Fabry disease substrate digalactosylceramide (Gal2Cer) which is hydrolysed to form galactose and galactosylceramide (GalCer) (Dean & Sweeley, 1979). GLA functions as a homodimer (Garman & Garboczi 2004) and defects in this enzyme lead to Fabry disease (FD) (MIM:301500), a rare X-linked sphingolipidosis disease where glycolipids such as Gal2Cer accumulate in many tissues (Garman & Garboczi 2004, Eng et al. 1993, Shabeer et al. 2006). Researchers also observed elevated Gal2Cer in prosaposin deficiency (PSAPD, MIM: 611721) cases, a rare disease with low levels of all saposins. Saposin B (PSAP(195-273)) is an essential cofactor to the reaction (Bradova et al., 1993; Kase et al., 1996)
Identifier: R-HSA-6807214
Species: Homo sapiens
Compartment: endoplasmic reticulum lumen, endoplasmic reticulum membrane
GGCX (gamma glutamyl carboxylase) in the endoplasmic reticulum gamma-carboxylates three glutamate residues on BGLAP(24-100) (pro-osteocalcin). MK4 (vitamin K hydroquinone) is oxidized to MK4 epoxide in the process (Berkner 2000; Ferron et al. 2015; Furie et al. 1999; Hauschka et al. 1989; Morris et al. 1995; oser et al. 1980; Stenina et al. 2001).
Identifier: R-HSA-202710
Species: Homo sapiens
Compartment: plasma membrane, extracellular region
MerTK appears to be required for ingestion of apoptotic cells by professional phagocytes such as monocytes/macrophages, retinal pigment epithelial cells and dendritic cells. Mer appears to be able to induce the cytoskeletal remodelling that is required for engulfment during phagocytosis. For instance, a deletion in the MERTK gene was identified as the underlying cause for retinal dystrophy which involves an impairment in the ingestion of shed photoreceptor cell fragments by retinal pigment epithelial cells.

The biological ligands for MerTK are two highly similar vitamin K-dependent proteins, Gas6 and protein S (PS), a negative regulator of blood coagulation. Both proteins are composed an N-terminal region containing multiple post-translationally modified gamma-carboxyglutamic acid residues (Gla). The Gla region possesses the ability to interact in a conformationally specific manner with negatively charged membrane phospholipids, which is thought to mediate the binding of both Gas6 and PS to apoptotic cells. In this way, they are thought to act as recognition bridges between apoptotic cells and the phagocyte cell that ingest them.

Pathway (1 results from a total of 1)

Identifier: R-HSA-5579000
Species: Homo sapiens
Cytochrome P450 1B1 (CYP1B1) can oxidise a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics as well as activating a range of procarcinogens. A specific substrate is the female sex hormone estradiol-17beta (EST17b) which is 4-hydroxylated to 4-hydroxyestradiol-17beta 4OH-EST17b). Defects in CYP1B1 can cause glaucoma disorders such as Glaucoma 3, primary congenital, A (GLC3A; MIM:231300), Glaucoma, primary open angle (POAG; MIM:137760), Glaucoma 1, open angle, A (GLC1A; MIM:137750) and Peters anomaly (PAN; MIM:604229). These disorders cause a progressive optic neuropathy characterised by visual field defects that ultimately lead to irreversible blindness (Li et al. 2011, Sarfarazi et al. 2003, Vincent et al. 2001).

Person (1 results from a total of 1)

Authored Pathways: 0
Reviewed Pathways: 0
Authored Reactions: 0
Reviewed Reactions: 1

Icon (1 results from a total of 1)

Species: Homo sapiens
Representation of the kidneys and adrenal glands
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