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FLASH GENE

Symbol

GLB1

contributors: npt - updated : 16-09-2006

HGNC name	galactosidase, beta 1
HGNC id	4298

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GLB1 generalized gangliosidosis, infantile type GLB1A gangliosidosis, generalized GM1, type III, or adult type MPS4B mucopolysaccharidosis, type IVB
Location	3p22.3      Physical location : 33.038.099 - 33.138.694
Synonym name	elastin binding protein
	elastin receptor 1, 67kDa
	acid beta-galactosidase
	lactase
Synonym symbol(s)	ELBP, B20G1, ELNR1
EC.number	3.2.1.23

DNA

TYPE	functioning gene
STRUCTURE	100.60 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000404 16 splicing 2588 NP_000395 76.1 677 lysosomal Morreau (1994) also called variant 1 or variant beta-D glycoprotein catalyzing the cleavage of the terminal galactose NM_001135602 13 splicing 2195 NP_001129074 60.6 546 perinuclear area of the cytoplasm but not to lysosomes Morreau (1994) also called variant 3 or variant beta or S-GAL glycoprotein having no beta-galactosidase catalytic activity playing functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue functioning as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers identical to elastin/laminin binding protein NM_001079811 16 - 2500 NP_001073279 - 647 - - also called variant 2

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Endocrine pancreas         Nervous brain         Reproductive male system prostate       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Connective cartilage       Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Epithelial sensory visual     Muscular smooth       Muscular striatum skeletal     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune macrophage Nervous neuron Skin/Tegument keratinocyte Visual ganglion cell

cell lineage	chondroblasts
cell lines	cancer cell lines
fluid/secretion

at STAGE

physiological period

fetal

Text	nervous system

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	putative signal sequence of 23 AA
	seven asporagino-linkde glyosylation sites

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to murine Glb1
	homolog to Drosophila CG3132
	homolog to C.elegans T19B10.3

intraspecies

homolog to identical to elastin/laminin binding protein

Homologene

FAMILY

glycosyl hydrolase 35 family

CATEGORY

enzyme , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
text	immobilized on cell surface

basic FUNCTION	oligosaccharides, keratan sulfate, stepwise degradation of sphingolipids, glycosaminoglycans (mucopolysaccharides)
	acting on GM1 gangliosides
	catalyzing the cleavage of the terminal galactose

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate , lipid/lipoprotein

signaling

a component

complexing with neuramidase and protective protein A(PPGB)

INTERACTION

DNA

RNA

small molecule

protein

binding to tropoelastin in elastin producing cells facilitating the secretion of tropoelastin and its assembly into elastic fibers

cell & other

binding to matrix ligands in the absence of galactosugars

REGULATION

Other

targeted to the lysosome by M6P receptor mediated pathway

ASSOCIATED DISORDERS

corresponding disease(s)

GLB1 , MPS4B , GLB1A

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS