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Aliases for GLB1 Gene

Aliases for GLB1 Gene

  • Galactosidase Beta 1 2 3 5
  • Elastin Receptor 1, 67kDa 2 3
  • Acid Beta-Galactosidase 3 4
  • EC 3.2.1.23 4 58
  • Lactase 3 4
  • ELNR1 3 4
  • Elastin Receptor 1 (67kD) 2
  • Galactosidase, Beta 1 2
  • Beta-Galactosidase 3
  • Elastin Receptor 1 4
  • MPS4B 3
  • EBP 3

External Ids for GLB1 Gene

Previous HGNC Symbols for GLB1 Gene

  • ELNR1

Previous GeneCards Identifiers for GLB1 Gene

  • GC03M032344
  • GC03M032884
  • GC03M033009

Summaries for GLB1 Gene

Entrez Gene Summary for GLB1 Gene

  • This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]

GeneCards Summary for GLB1 Gene

GLB1 (Galactosidase Beta 1) is a Protein Coding gene. Diseases associated with GLB1 include Gm1-Gangliosidosis, Type I and Gm1-Gangliosidosis, Type Ii. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. GO annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and galactoside binding. An important paralog of this gene is GLB1L.

UniProtKB/Swiss-Prot for GLB1 Gene

  • Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.

  • Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers.

Gene Wiki entry for GLB1 Gene

Additional gene information for GLB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLB1 Gene

Genomics for GLB1 Gene

Regulatory Elements for GLB1 Gene

Enhancers for GLB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H032684 1.1 ENCODE 15.6 +411.5 411525 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 SP3 GLB1 TMPPE CNOT10 UBP1 DYNC1LI1 RPL31P18 CMTM6 ENSG00000236732 TRIM71 PIR58788
GH03H033054 1.5 Ensembl ENCODE dbSUPER 11.3 +42.2 42245 1 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 ATF7 RUNX3 TMPPE GLB1 SUGT1P2 CNOT10-AS1 CNOT10 CRTAP SEC13P1 SUMO2P10
GH03H033061 0.8 ENCODE dbSUPER 20.2 +34.2 34237 2 JUND POLR2A JUNB RUNX3 GLB1 CRTAP TMPPE SUGT1P2 CNOT10-AS1 CNOT10 SUMO2P10 SEC13P1
GH03H033437 1.4 ENCODE dbSUPER 10.7 -342.7 -342707 5 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CNOT10 PDCD6IP UBP1 FBXL2 GLB1 TMPPE CMTM6 PIR40256 GC03M033417
GH03H033113 1.1 ENCODE 11.6 -17.5 -17477 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS CNOT10 PDCD6IP UBP1 CRTAP TMPPE GLB1 ENSG00000271643 ENSG00000236732 ENSG00000271020 GC03P033114
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GLB1 on UCSC Golden Path with GeneCards custom track

Promoters for GLB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000150605 330 1801 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS

Genomic Location for GLB1 Gene

Chromosome:
3
Start:
32,996,608 bp from pter
End:
33,097,230 bp from pter
Size:
100,623 bases
Orientation:
Minus strand

Genomic View for GLB1 Gene

Genes around GLB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLB1 Gene

Proteins for GLB1 Gene

  • Protein details for GLB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16278-BGAL_HUMAN
    Recommended name:
    Beta-galactosidase
    Protein Accession:
    P16278
    Secondary Accessions:
    • B2R7H8
    • B7Z6B0
    • P16279

    Protein attributes for GLB1 Gene

    Size:
    677 amino acids
    Molecular mass:
    76075 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GLB1 Gene

    Alternative splice isoforms for GLB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLB1 Gene

Selected DME Specific Peptides for GLB1 Gene

P16278:
  • LVENMGR
  • SSNYTLPAFY
  • INDFKGL
  • GVHDRAYV
  • EDAVRSHLG
  • LRSSDPDYL
  • SEFYTGWL
  • GNFSIPSGIPDLPQDTFIQF
  • TSYDYDAP
  • YRTTLPQDCS
  • GFVLYRT
  • GKAGATLD
  • LAHELGLLVILRPGPYICAEW
  • HDVEYFL
  • KFEKVPEG
  • DRLLKMK
  • PGQYQFS
  • TSAPNTI
  • VITLNITG
  • YMFIGGTNFAYWNGAN
  • KGQVWING
  • ILCPSGPIKS

Post-translational modifications for GLB1 Gene

  • Glycosylation at posLast=2626, isoforms=2, 3247, isoforms=2, 3464, isoforms=2, 3498, posLast=542542, posLast=545545, and posLast=555555
  • Modification sites at PhosphoSitePlus

Domains & Families for GLB1 Gene

Gene Families for GLB1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GLB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P16278

UniProtKB/Swiss-Prot:

BGAL_HUMAN :
  • Belongs to the glycosyl hydrolase 35 family.
Family:
  • Belongs to the glycosyl hydrolase 35 family.
genes like me logo Genes that share domains with GLB1: view

Function for GLB1 Gene

Molecular function for GLB1 Gene

GENATLAS Biochemistry:
galactosidase,beta-1,lysosomal,acting or GM1 gangliosides,glycoproteins,oligosaccharides,keratan sulfate,stepwise degradation of sphingolipids,glycosaminoglycans (mucopolysaccharides),including a 67kDa enzymatically inactive alternatively spliced variant identical to elastin/laminin binding protein
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.
UniProtKB/Swiss-Prot Function:
Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.
UniProtKB/Swiss-Prot Function:
Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers.

Enzyme Numbers (IUBMB) for GLB1 Gene

Phenotypes From GWAS Catalog for GLB1 Gene

Gene Ontology (GO) - Molecular Function for GLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004308 exo-alpha-sialidase activity TAS --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004565 beta-galactosidase activity IEA,TAS 3143362
GO:0005515 protein binding IPI 15498789
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with GLB1: view
genes like me logo Genes that share phenotypes with GLB1: view

Human Phenotype Ontology for GLB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLB1 Gene

MGI Knock Outs for GLB1:

Animal Model Products

CRISPR Products

miRNA for GLB1 Gene

miRTarBase miRNAs that target GLB1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GLB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for GLB1 Gene

Localization for GLB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLB1 Gene

Isoform 1: Lysosome.
Isoform 2: Cytoplasm, perinuclear region. Note=Localized to the perinuclear area of the cytoplasm but not to lysosomes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLB1 gene
Compartment Confidence
extracellular 5
lysosome 5
golgi apparatus 5
endoplasmic reticulum 2
cytosol 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA,IDA 11927518
GO:0005764 lysosome IEA --
GO:0005773 vacuole IBA --
genes like me logo Genes that share ontologies with GLB1: view

Pathways & Interactions for GLB1 Gene

genes like me logo Genes that share pathways with GLB1: view

Gene Ontology (GO) - Biological Process for GLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0019388 galactose catabolic process IEA --
genes like me logo Genes that share ontologies with GLB1: view

No data available for SIGNOR curated interactions for GLB1 Gene

Drugs & Compounds for GLB1 Gene

(9) Drugs for GLB1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
lactose Approved Pharma 0
Glycerol Approved, Investigational Pharma 253
Water Approved Pharma 0
Beta-D-Glucose Experimental Pharma 0
Galactose Investigational Pharma 0

(47) Additional Compounds for GLB1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Keto-b-D-galactose
  • 3-Dehydro-beta-D-galactose
  • 3-Dehydro-beta-delta-galactose
  • 3-Keto-beta-D-galactose
  • 3-Keto-beta-delta-galactose
3'-Ketolactose
  • 3'-Dehydro-beta-D-galactosyl-beta-D-glucopyranoside
  • 3'-Dehydro-beta-delta-galactosyl-beta-delta-glucopyranoside
  • 3'-Ketolactose
15990-62-2
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
Beta-D-Galactose
  • b-D-Galactose
  • b-Galactose
  • beta D-Galactose
  • beta-D-Galactopyranose
  • beta-D-Galactose
7296-64-2
beta-Lactose
  • beta-D-Galactopyranosyl-(1->4)-beta-D-glucopyranose
  • beta-D-Galactopyranosyl-(1->4)-beta-D-glucose
  • beta-Lactose
5965-66-2
genes like me logo Genes that share compounds with GLB1: view

Transcripts for GLB1 Gene

Unigene Clusters for GLB1 Gene

Galactosidase, beta 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GLB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for GLB1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - -
SP5: - -
SP6:

Relevant External Links for GLB1 Gene

GeneLoc Exon Structure for
GLB1
ECgene alternative splicing isoforms for
GLB1

Expression for GLB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GLB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GLB1 Gene

This gene is overexpressed in Urine (15.5) and Adrenal (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GLB1 Gene



Protein tissue co-expression partners for GLB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GLB1 Gene:

GLB1

SOURCE GeneReport for Unigene cluster for GLB1 Gene:

Hs.443031

Evidence on tissue expression from TISSUES for GLB1 Gene

  • Intestine(4.8)
  • Nervous system(4.6)
  • Liver(4.5)
  • Blood(4.4)
  • Kidney(3.3)
  • Lung(2.8)
  • Skin(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GLB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GLB1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GLB1 Gene

Orthologs for GLB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GLB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLB1 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia GLB1 33 34
  • 85.64 (n)
cow
(Bos Taurus)
Mammalia GLB1 33 34
  • 82.66 (n)
mouse
(Mus musculus)
Mammalia Glb1 33 16 34
  • 80.64 (n)
rat
(Rattus norvegicus)
Mammalia Glb1 33
  • 79.86 (n)
oppossum
(Monodelphis domestica)
Mammalia GLB1 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLB1 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLB1 33 34
  • 68.68 (n)
lizard
(Anolis carolinensis)
Reptilia GLB1 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glb1l 33
  • 67.06 (n)
zebrafish
(Danio rerio)
Actinopterygii glb1 33 34
  • 65.6 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002056 33
  • 50.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ect3 35 34
  • 42 (a)
CG9092 35
  • 38 (a)
Gal 34
  • 38 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T19B10.3 35 33 34
  • 49.72 (n)
H22K11.2 35 34
  • 33 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons BGAL17 33
  • 49.94 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9073 33
rice
(Oryza sativa)
Liliopsida Os05g0539400 33
  • 50.93 (n)
Os.14570 33
Species where no ortholog for GLB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLB1 Gene

ENSEMBL:
Gene Tree for GLB1 (if available)
TreeFam:
Gene Tree for GLB1 (if available)

Paralogs for GLB1 Gene

Paralogs for GLB1 Gene

(3) SIMAP similar genes for GLB1 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for GLB1 Gene

genes like me logo Genes that share paralogs with GLB1: view

Variants for GLB1 Gene

Sequence variations from dbSNP and Humsavar for GLB1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs4302331 Benign, GM1-gangliosidosis 1 (GM1G1) [MIM:230500] 33,014,229(+) GCTGC(A/G)CACTG reference, missense
rs7637099 other, GM1-gangliosidosis 1 (GM1G1) [MIM:230500] 33,097,057(+) ACAGA(A/C/G)GGAGG upstream-variant-2KB, reference, missense
VAR_003329 GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
VAR_003329 GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
VAR_003330 GM1-gangliosidosis 3 (GM1G3) [MIM:230650]

Structural Variations from Database of Genomic Variants (DGV) for GLB1 Gene

Variant ID Type Subtype PubMed ID
esv2725116 CNV deletion 23290073
esv33555 CNV gain 17666407
esv3448309 CNV insertion 20981092
esv3568683 CNV loss 25503493
esv3595792 CNV loss 21293372
nsv1003285 CNV gain 25217958
nsv3753 CNV insertion 18451855
nsv509820 OTHER sequence alteration 20534489
nsv590050 CNV loss 21841781
nsv963308 CNV duplication 23825009
nsv998302 CNV gain 25217958

Variation tolerance for GLB1 Gene

Residual Variation Intolerance Score: 48.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.22; 84.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLB1 Gene

Human Gene Mutation Database (HGMD)
GLB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLB1 Gene

Disorders for GLB1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for GLB1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gm1-gangliosidosis, type i
  • beta-galactosidase-1 deficiency
gm1-gangliosidosis, type ii
  • gm1 gangliosidosis type 2
gm1-gangliosidosis, type iii
  • gm1 gangliosidosis type 3
mucopolysaccharidosis type ivb
  • morquio syndrome b
glb1-related disorders
- elite association - COSMIC cancer census association via MalaCards
Search GLB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BGAL_HUMAN
  • GM1-gangliosidosis 1 (GM1G1) [MIM:230500]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life. {ECO:0000269 PubMed:10338095, ECO:0000269 PubMed:10737981, ECO:0000269 PubMed:10839995, ECO:0000269 PubMed:1487238, ECO:0000269 PubMed:15365997, ECO:0000269 PubMed:15714521, ECO:0000269 PubMed:15791924, ECO:0000269 PubMed:16538002, ECO:0000269 PubMed:16941474, ECO:0000269 PubMed:17309651, ECO:0000269 PubMed:17664528, ECO:0000269 PubMed:1907800, ECO:0000269 PubMed:1909089, ECO:0000269 PubMed:1928092, ECO:0000269 PubMed:19472408, ECO:0000269 PubMed:25936995, ECO:0000269 PubMed:8213816, ECO:0000269 Ref.24, ECO:0000269 Ref.27}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • GM1-gangliosidosis 2 (GM1G2) [MIM:230600]: A gangliosidosis characterized by onset between ages 1 and 5. The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures. Patients do not display the skeletal changes associated with the infantile form, but they nonetheless excrete elevated amounts of beta-linked galactose-terminal oligosaccharides. Inheritance is autosomal recessive. {ECO:0000269 PubMed:10737981, ECO:0000269 PubMed:12644936, ECO:0000269 PubMed:15714521, ECO:0000269 PubMed:16941474, ECO:0000269 PubMed:17309651, ECO:0000269 PubMed:1907800, ECO:0000269 PubMed:1909089, ECO:0000269 PubMed:19472408, ECO:0000269 PubMed:25936995, ECO:0000269 PubMed:8213816}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • GM1-gangliosidosis 3 (GM1G3) [MIM:230650]: A gangliosidosis with a variable phenotype. Patients show mild skeletal abnormalities, dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal recessive. {ECO:0000269 PubMed:11511921, ECO:0000269 PubMed:15986423, ECO:0000269 PubMed:16941474, ECO:0000269 PubMed:17309651, ECO:0000269 PubMed:17664528, ECO:0000269 PubMed:1907800, ECO:0000269 PubMed:1909089, ECO:0000269 PubMed:19472408, ECO:0000269 PubMed:25936995, ECO:0000269 PubMed:8198123, ECO:0000269 Ref.24, ECO:0000269 Ref.26}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]: A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. {ECO:0000269 PubMed:11511921, ECO:0000269 PubMed:12393180, ECO:0000269 PubMed:16538002, ECO:0000269 PubMed:16941474, ECO:0000269 PubMed:17664528, ECO:0000269 PubMed:1928092, ECO:0000269 PubMed:19472408, ECO:0000269 PubMed:7586649}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GLB1

Genetic Association Database (GAD)
GLB1
Human Genome Epidemiology (HuGE) Navigator
GLB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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genes like me logo Genes that share disorders with GLB1: view

No data available for Genatlas for GLB1 Gene

Publications for GLB1 Gene

  1. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. (PMID: 19472408) Hofer D … Paschke E (Human mutation 2009) 3 4 22 60
  2. Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. (PMID: 17664528) Santamaria R … Vilageliu L (Journal of lipid research 2007) 3 4 22 60
  3. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. (PMID: 17661814) Gort L … Chabás A (Clinical genetics 2007) 3 4 22 60
  4. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. (PMID: 17309651) Santamaria R … Vilageliu L (Clinical genetics 2007) 3 4 22 60
  5. Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies. (PMID: 16538002) Tatano Y … Itoh K (The journal of medical investigation : JMI 2006) 3 4 22 60

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