Galactosylceramidase

Galactosylceramidase

Identifiers

Databases

metabolic pathway

PDB structures

RCSB PDB PDBe PDBsum

AmiGO / QuickGO

Search
PMC	articles
PubMed	articles
NCBI	proteins

Galactosylceramidase (or galactocerebrosidase), EC 3.2.1.46, is an enzyme that removes galactose from ceramide derivatives (galactosylceramides) by catalysing the hydrolysis of galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride.^[1]

It is a lysosomal protein, encoded in humans by the GALC gene.^[1]^[2] Mutations in this gene have been associated with Krabbe disease, also known as galactosylceramide lipidosis.^[1]

References

^ ^a ^b ^c "Entrez Gene: galactosylceramidase".
^ Lee WC, Tsoi YK, Troendle FJ, et al. (August 2007). "Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy". FASEB J. 21 (10): 2520–2527. doi:10.1096/fj.06-6169com. PMID 17403939. S2CID 19511563.

GALC

Identifiers

GALC, entrez:2581, galactosylceramidase

External IDs

OMIM: 606890; MGI: 95636; HomoloGene: 124; GeneCards: GALC; OMA:GALC - orthologs

Gene location (Human)

Chr.	Chromosome 14 (human)^[1]

Band	14q31.3	Start	87,837,820 bp^[1]
Band	14q31.3	End	87,993,665 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 12 (mouse)^[2]

Band	12 E\|12 49.83 cM	Start	98,168,553 bp^[2]
Band	12 E\|12 49.83 cM	End	98,225,718 bp^[2]

RNA expression pattern

Human

Mouse (ortholog)

Top expressed in

bronchial epithelial cell

jejunal mucosa

glomerulus

metanephric glomerulus

germinal epithelium

optic nerve

retinal pigment epithelium

duodenum

trigeminal ganglion

inferior ganglion of vagus nerve

Top expressed in

stroma of bone marrow

human kidney

epithelium of lens

submandibular gland

right kidney

granulocyte

iris

seminiferous tubule

gastrula

ciliary body

More reference expression data

n/a

Gene ontology
Molecular function	hydrolase activity hydrolase activity, acting on glycosyl bonds galactosylceramidase activity catalytic activity
Cellular component	lysosome lysosomal lumen
Biological process	lipid catabolic process metabolism galactosylceramide catabolic process glycosphingolipid metabolic process lipid metabolism sphingolipid metabolic process myelination
Sources:Amigo / QuickGO

Species

Human

Mouse


2581


14420


ENSG00000054983


ENSMUSG00000021003


P54803


P54818

RefSeq (mRNA)


NM_000153 NM_001037525 NM_001201401 NM_001201402


NM_008079

RefSeq (protein)


NP_000144 NP_001188330 NP_001188331


NP_032105

Location (UCSC)

Chr 14: 87.84 – 87.99 Mb

Chr 12: 98.17 – 98.23 Mb

PubMed search

^[3]

^[4]

View/Edit Human

View/Edit Mouse

Further reading

Lee WC, Kang D, Causevic E, et al. (2010). "Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones". J. Neurosci. 30 (16): 5489–5497. doi:10.1523/JNEUROSCI.6383-09.2010. PMC 3278277. PMID 20410102.
Wenger DA, Rafi MA, Luzi P (1997). "Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications". Hum. Mutat. 10 (4): 268–279. doi:10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D. PMID 9338580. S2CID 36148722.
De Gasperi R, Gama Sosa MA, Sartorato EL, et al. (1996). "Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy". Am. J. Hum. Genet. 59 (6): 1233–1242. PMC 1914878. PMID 8940268.
Tappino B, Biancheri R, Mort M, et al. (2010). "Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease". Hum. Mutat. 31 (12): E1894–1914. doi:10.1002/humu.21367. PMC 3052420. PMID 20886637.
Formichi P, Radi E, Battisti C, et al. (2007). "Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients". J. Cell. Physiol. 212 (3): 737–743. doi:10.1002/jcp.21070. PMID 17458901. S2CID 39182882.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Franke A, McGovern DP, Barrett JC, et al. (2010). "Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci". Nat. Genet. 42 (12): 1118–1125. doi:10.1038/ng.717. PMC 3299551. PMID 21102463.
Wenger DA, Rafi MA, Luzi P, et al. (2000). "Krabbe disease: genetic aspects and progress toward therapy". Mol. Genet. Metab. 70 (1): 1–9. doi:10.1006/mgme.2000.2990. PMID 10833326.
Lissens W, Arena A, Seneca S, et al. (2007). "A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region". Hum. Mutat. 28 (7): 742. doi:10.1002/humu.9500. PMID 17579360. S2CID 1705020.
Beier UH, Görögh T (2005). "Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells". Int. J. Cancer. 115 (1): 6–10. doi:10.1002/ijc.20851. PMID 15657896. S2CID 1013550.
Xu C, Sakai N, Taniike M, et al. (2006). "Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation". J. Hum. Genet. 51 (6): 548–554. doi:10.1007/s10038-006-0396-3. PMID 16607461.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
De Gasperi R, Gama Sosa MA, Sartorato E, et al. (1999). "Molecular basis of late-life globoid cell leukodystrophy". Hum. Mutat. 14 (3): 256–262. doi:10.1002/(SICI)1098-1004(1999)14:3<256::AID-HUMU9>3.0.CO;2-6. PMID 10477434. S2CID 27655.
Furuya H, Kukita Y, Nagano S, et al. (1997). "Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients". Hum. Genet. 100 (3–4): 450–456. doi:10.1007/s004390050532. PMID 9272171. S2CID 22928816.
Fu L, Inui K, Nishigaki T, et al. (1999). "Molecular heterogeneity of Krabbe disease". J. Inherit. Metab. Dis. 22 (2): 155–162. doi:10.1023/A:1005449919660. PMID 10234611. S2CID 24368901.
Sakai N, Fukushima H, Inui K, et al. (1998). "Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization". Biochim. Biophys. Acta. 1395 (1): 62–67. doi:10.1016/S0167-4781(97)00140-1. PMID 9434153.
Harzer K, Knoblich R, Rolfs A, et al. (2002). "Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease". Clin. Chim. Acta. 317 (1–2): 77–84. doi:10.1016/S0009-8981(01)00791-4. PMID 11814461.
Flachsbart F, Franke A, Kleindorp R, et al. (2010). "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study". Mutat. Res. 694 (1–2): 13–19. doi:10.1016/j.mrfmmm.2010.08.006. PMID 20800603.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Hendrickson SL, Lautenberger JA, Chinn LW, et al. (2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. Bibcode:2010PLoSO...512862H. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.

External links

GeneReviews/NCBI/NIH/UW entry on Krabbe disease
OMIM entries on Krabbe disease
Galactosylceramidase at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
PDBe-KB provides an overview of all the structure information available in the PDB for Mlouse Galactocerebrosidase

Metabolism, lipid metabolism, glycolipid enzymes

To glycosphingolipid	Glycosyltransferase Sulfotransferase
To ceramide	From ganglioside Beta-galactosidase Hexosaminidase A Neuraminidase Glucocerebrosidase From globoside Hexosaminidase B Alpha-galactosidase Beta-galactosidase Glucocerebrosidase From sphingomyelin Sphingomyelin phosphodiesterase Sphingomyelin phosphodiesterase 1 From sulfatide Arylsulfatase A Galactosylceramidase
To sphingosine	Ceramidase ACER1 ACER2 ACER3 ASAH1 ASAH2 ASAH2B ASAH2C
Other	Sphingosine kinase

Ceramide synthesis

Hydrolase: sugar hydrolases (EC 3.2)

3.2.1: Glycoside hydrolases

Disaccharidase	Sucrase/Sucrase-isomaltase/Invertase Maltase Trehalase Lactase
Glucosidases	Cellulase Alpha-glucosidase Acid Neutral AB Neutral C Beta-glucosidase cytosolic Debranching enzyme
Other	Amylase Alpha-amylase Chitinase Lysozyme Neuraminidase NEU1 NEU2 NEU3 NEU4 Bacterial neuraminidase Viral neuraminidase Galactosidases Alpha Beta alpha-Mannosidase Glucuronidase Klotho Hyaluronidase Pullulanase Glucosylceramidase lysosomal non-lysosomal Galactosylceramidase Alpha-N-acetylgalactosaminidase NAGA Alpha-N-acetylglucosaminidase Fucosidase Hexosaminidase HEXA HEXB Iduronidase Maltase-glucoamylase Heparanase HPSE2

3.2.2: Hydrolysing
N-Glycosyl compounds

DNA glycosylases: Oxoguanine glycosylase

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

This EC 3.2 enzyme-related article is a stub. You can help Wikipedia by expanding it.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000054983 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021003 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

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Anhe Ghore Da Daan

Mary Ewing-Mulligan

كارلا فراشي

Washington Township, Vernon County, Missouri

X Factor (Finnish TV series)

2022 Winnipeg Blue Bombers season

1910 College Football All-America Team

/kampuspedia.com/index.php/ru/Дорогая Америка: Письма домой из Вьетнама

Frederick Richard Pickersgill

Hôtel Salomon de Rothschild

2021–22 United Rugby Championship

Andrew Nelson (footballer)

Elias Hasket Derby

Fachtna Fáthach

Fédération internationale de force athlétique

1989 Virginia gubernatorial election

The Kingmaker's Daughter

What's Words Worth?

Masonic Temple (Lahore)

Biri, Samar Utara

/kampuspedia.com/index.php/Daftar Bupati Aceh Utara

/kampuspedia.com/index.php/ru/1-я русская национальная бригада СС «Дружина»

Operand forwarding

Subatomic particle

William Hague (disambiguation)

Sedimentary rock

1920 United States presidential election in Kentucky

Prosopocera valida

Wuyunggame, Oneri, Puncak

Arcadian League

Carlton, Nottinghamshire

Capitol of Palau

بينجامين ميندي

/kampuspedia.com/index.php/Kejuaraan Remaja U-16 AFF 2014

Vehículos Industriales y Agrícolas, S.A

اتفاقيات جنيف 1988

/kampuspedia.com/index.php/Musik Korea Selatan dalam tahun 2018

فيكتوريا فاولر (ممثلة)

تسعة أجزاء من الرغبة (مسرحية)

Punta Gorda, Florida

Gadis Sampul 2005

Template talk:WesternCape-geo-stub

Battle of Zvolen (1703)

Tottenham Hotspur Football Club

Pembicaraan Templat:Kabupaten Semarang

Klaus Maria Brandauer

The Battle of Otterburn (ballad)

Mega Ampere Spherical Tokamak

CLAW hypothesis

Protector (trust)

Elizabeth George Speare

Massimo Moratti

Bathurst railway station, New South Wales

إي فوتبول (سلسلة)

Système de coordonnées curvilignes

Second Tătărăscu cabinet

Russian monitor Perun

Deret konvergen

Teressa Raiford

Tales of My Landlord

Americans for Safe Access v. Drug Enforcement Administration

Kamalpur, Assam Assembly constituency

Viggianello, Basilicata

Eureka Rebellion

Montgomery Heights, West Virginia

Ceramic matrix composite

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