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FLASH GENE
Symbol GALC contributors: mct - updated : 04-11-2014
HGNC name galactosylceramidase (Krabbe disease)
HGNC id 4115
Corresponding disease
GALCD galactosylceramide beta-galactosidase deficiency
Location 14q31.3      Physical location : 88.399.359 - 88.459.907
Synonym name galactocerebrosidase (galactosyl-ceramide beta-galactosidase)
Synonym symbol(s) GLB
EC.number 3.2.1.46
DNA
TYPE pseudogene
STRUCTURE 155.84 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure promoter GC rich
MAPPING cloned Y linked Y status confirmed
Map cen - D14S43 - D14S53 - [D14S55 - D14S48 ] - SERPINA1 - D14S45 - qter
Authors Oehlmann (93)
Text [GALC ]
Physical map
RNU3P3 14q31.3 RNA, U3 small nucleolar pseudogene 3 LOC283583 14q31.3 hypothetical LOC283583 LOC388003 14 LOC388003 FLRT2 14q24-q32 fibronectin leucine rich transmembrane protein 2 LOC283584 14q31.3 hypothetical LOC283584 LOC283586 14q31.3 hypothetical LOC283586 GALC 14q31 galactosylceramidase (Krabbe disease) GPR65 14q31.1 G protein-coupled receptor 65 LOC283587 14q31.3 hypothetical protein LOC283587 KCNK10 14q31 potassium channel, subfamily K, member 10 SPATA7 14q31.3 spermatogenesis associated 7 PTPN21 14q31.1 protein tyrosine phosphatase, non-receptor type 21 FLJ11806 14q31.3 nuclear protein UKp68 EML5 14q31.3 echinoderm microtubule associated protein like 5 TTC8 14q31.3 tetratricopeptide repeat domain 8 LOC390501 14 similar to MPPE1 protein CHES1 14q24.3-q31 checkpoint suppressor 1 C14orf116 14q31.3 chromosome 14 open reading frame 116 CAP2P1 14 CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1 PRO1768 14q32.11 PRO1768 protein CHORDC2P 14 cysteine and histidine-rich domain (CHORD)-containing 2 pseudogene C14orf143 14q32.11 chromosome 14 open reading frame 143 TDP1 14q32.11 tyrosyl-DNA phosphodiesterase 1 KCNK13 14q24.1-q24.3 potassium channel, subfamily K, member 13 GLRXP2 14q32.13-q32.2 glutaredoxin pseudogene 2 PSMC1 19p13.3 proteasome (prosome, macropain) 26S subunit, ATPase, 1 C14orf102 14q32.11 chromosome 14 open reading frame 102 RPL21P11 14q32.11 ribosomal protein L21 pseudogene 11 CALM1 14q24-q31 calmodulin 1 (phosphorylase kinase, delta)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 3878 74.7 659 - -
16 - 3828 74.3 662 - -
17 - 3897 77.03 685 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainforebrain    Homo sapiens
 brain     Homo sapiens
 spinal cord     Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentralwhite matter  
Nervousperipherous   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 26 AA N terminal signal peptide
  • six potential aspargine-linked glycosylation sites
  • HOMOLOGY
    Homologene
    FAMILY glycosyl hydrolase 59 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,lysosome
    text axon
    basic FUNCTION
  • hydrolysis of certain galactolipids including galactosylceramide, psychosine, monogalactosyldiglyceride
  • is involved in the maintenance of a functional hematopoietic stem/progenitor cell (HSPC) niche by contributing to the control of the intracellular content of key sphingolipids
  • role of GALC in maintaining a functional subventricular zone (SVZ) neurogenic niche during the neonatal, early post-natal and adult life by contributing to the control of proliferation and self-renewal of neural stem cells (NSCs) and to the survival and migration of their neuronal and oligodendroglial progeny
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) GALCD
    related resource Krabbe Disease at GeneDis
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    affects stem/progenitor cell survival, proliferation and self-renewal in the SVZ niche in a cell-autonomous manner
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Twi-5J display gliosis and globoid cell accumulation in the forebrain, and psychosine accumulation without extensive perturbations in CNS myelination
  • proliferation/self-renewal of neural stem cells (NSCs) and survival of their neuronal and oligodendroglial progeny are impaired in Galc-deficient mice