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Protein Page:
GALC (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
GALC Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon. Defects in GALC are the cause of leukodystrophy globoid cell (GLD); also known as Krabbe disease. This autosomal recessive disorder results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. Clinically, the most frequent form is the infantile form. Most patients (90%) present before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. However, a significant number of cases with later onset, presenting with unexplained blindness, weakness and/or progressive motor, and sensory neuropathy that can progress to severe mental incapacity and death, have been identified. Belongs to the glycosyl hydrolase 59 family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Lipid Metabolism - sphingolipid; EC 3.2.1.46; Hydrolase
Cellular Component: lysosomal lumen; mitochondrion; lysosome
Molecular Function: galactosylceramidase activity
Biological Process: sphingolipid metabolic process; carbohydrate metabolic process; glycosphingolipid metabolic process; galactosylceramide catabolic process
Reference #:  P54803 (UniProtKB)
Alt. Names/Synonyms: Galactocerebrosidase; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase; galactosylceraminidase; GALC; GALCERase
Gene Symbols: GALC
Molecular weight: 77,033 Da
Basal Isoelectric point: 6.17  Predict pI for various phosphorylation states
Select Structure to View Below

GALC

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 K15-ac ASWQRRAkAMTAAAG
0 1 S68-p VSGGGATsRLLVNYP
0 1 K261-ac YPGTHSAkDAKLTGK
0 1 T381-p TDGLGNLtIIIETMS
0 1 T608-p ANGSYRVtGDLAGWI
0 1 T625-p ALGRVEVtAKKWYTL
  mouse

 
K15 ASQQRQAKVMTAAAG
S68 VSGGGATSRLLVNYP
W261 YPGTYTVWNAKMSGK
T381 TDGLGNLTIIIETMS
T607 ANGSYRVTADLGGWI
T624 ASGHADVTAKRWYTL
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