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 gl... See more...

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
  • Elastin Binding Protein 2 3
  • Beta-Galactosidase 3 4
  • EC 3.2.1.23 4 52
  • Lactase 3 4
  • ELNR1 3 4
  • Elastin Receptor 1 (67kD) 2
  • Galactosidase, Beta 1 2
  • 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 Metabolism of proteins and Innate Immune System. Gene Ontology (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 Summary for GLB1 Gene

  • [Isoform 1]: 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 , Rfam classification and piRNA Summary for GLB1 Gene

Genomics for GLB1 Gene

GeneHancer (GH) Regulatory Elements for GLB1 Gene

Promoters and enhancers for GLB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLB1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLB1

Top Transcription factor binding sites by QIAGEN in the GLB1 gene promoter:
  • GATA-2
  • GATA-3
  • GCNF
  • HEN1
  • HSF2

Genomic Locations for GLB1 Gene

Genomic Locations for GLB1 Gene
chr3:32,996,608-33,097,202
(GRCh38/hg38)
Size:
100,595 bases
Orientation:
Minus strand
chr3:33,038,100-33,138,722
(GRCh37/hg19)
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:
    • Homodimer (PubMed:22128166). May form higher multimers (Probable).

    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 Asn26, Asn247, Asn464, Asn498, Asn542, Asn545, and Asn555
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for GLB1 Gene

Gene Families for GLB1 Gene

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

Protein Domains for GLB1 Gene

Suggested Antigen Peptide Sequences for GLB1 Gene

GenScript: Design optimal peptide antigens:
  • Elastin receptor 1 (BGAL_HUMAN)
  • Galactosidase beta 1 (F4YK10_HUMAN)

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

UniProtKB/Swiss-Prot Function:
[Isoform 1]: 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.; EC=3.2.1.23; Evidence={ECO:0000269 PubMed:15714521, ECO:0000269 PubMed:19472408, ECO:0000269 PubMed:24737316, ECO:0000269 PubMed:2511208, ECO:0000269 PubMed:25936995, ECO:0000269 PubMed:3143362, ECO:0000269 PubMed:8200356};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 4.5-5.5.;
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

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:0004565 beta-galactosidase activity TAS,IEA 3143362
GO:0005515 protein binding IPI 15498789
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0016936 galactoside binding 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

Clone Products

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. {ECO:0000269 PubMed:2511208}.

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
lysosome 5
golgi apparatus 5
extracellular 4
endoplasmic reticulum 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Golgi apparatus (2)
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 IDA,IEA 11927518
GO:0005764 lysosome IEA --
GO:0005773 vacuole IBA 21873635
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, Experimental, Investigational Pharma 0
Galactose Approved, Investigational Pharma 0
Glycerol Approved, Investigational Pharma 208
Water Approved Pharma 0
Beta-D-Glucose Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-(3,4-dihydroxyphenyl)-5,7-dihydroxy-3-{[3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}-4H-chromen-4-one
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
  • 4-O-(beta-D-xylo-Hexopyranosyl-3-ulose)-D-glucopyranose
  • 4-O-beta-D-xylo-Hexopyranos-3-ulos-1-yl-D-glucose
15990-62-2
Alpha-D-Glucose
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • α-D-GLC
  • a-D-Glucose
492-62-6
Beta-D-Galactose
  • beta-D-Gal
  • Gal-beta
  • b-D-Gal
  • β-D-gal
  • b-D-Galactose
7296-64-2
genes like me logo Genes that share compounds with GLB1: view

Transcripts for GLB1 Gene

mRNA/cDNA for GLB1 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for GLB1 Gene

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



Protein tissue co-expression partners for GLB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLB1

SOURCE GeneReport for Unigene cluster for GLB1 Gene:

Hs.443031

mRNA Expression by UniProt/SwissProt for GLB1 Gene:

P16278-BGAL_HUMAN
Tissue specificity: Detected in placenta (at protein level) (PubMed:8383699). Detected in fibroblasts and testis (PubMed:2511208).

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(2.6)

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
Regions:
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

No data available for mRNA differential expression in normal tissues 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 31 30
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GLB1 31 30
  • 85.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GLB1 31 30
  • 82.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Glb1 17 31 30
  • 80.64 (n)
rat
(Rattus norvegicus)
Mammalia Glb1 30
  • 79.86 (n)
oppossum
(Monodelphis domestica)
Mammalia GLB1 31
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLB1 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLB1 31 30
  • 68.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLB1 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glb1l 30
  • 67.06 (n)
zebrafish
(Danio rerio)
Actinopterygii glb1 31 30
  • 65.6 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002056 30
  • 50.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ect3 31 32
  • 43 (a)
ManyToMany
Gal 31
  • 38 (a)
ManyToMany
CG9092 32
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea T19B10.3 31 32 30
  • 49.72 (n)
ManyToMany
H22K11.2 31 32
  • 34 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BGAL17 30
  • 49.94 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9073 30
rice
(Oryza sativa)
Liliopsida Os05g0539400 30
  • 50.93 (n)
Os.14570 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for GLB1: view image

Paralogs for GLB1 Gene

Paralogs for GLB1 Gene

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

  • BGAL_HUMAN
  • C9J4G9_HUMAN
  • C9J539_HUMAN
  • C9JF15_HUMAN
  • C9JWX1_HUMAN
  • E7EQ29_HUMAN
  • F4YK10_HUMAN
  • F8WEN1_HUMAN
  • F8WF40_HUMAN

Pseudogenes.org Pseudogenes for GLB1 Gene

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

Variants for GLB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLB1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
639100 Pathogenic: GM1 gangliosidosis; Mucopolysaccharidosis, MPS-IV-B 33,058,270(-) C/G SPLICE_ACCEPTOR_VARIANT,INTRON_VARIANT
639303 Uncertain Significance: GM1 gangliosidosis; Mucopolysaccharidosis, MPS-IV-B 33,046,221(-) G/C MISSENSE_VARIANT
645125 Uncertain Significance: GM1 gangliosidosis; Mucopolysaccharidosis, MPS-IV-B 33,014,093(-) G/T MISSENSE_VARIANT
654251 Uncertain Significance: GM1 gangliosidosis; Mucopolysaccharidosis, MPS-IV-B 33,016,709(-) C/A MISSENSE_VARIANT
657106 Pathogenic: GM1 gangliosidosis; Mucopolysaccharidosis, MPS-IV-B 33,072,625(-) AT/A FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for GLB1 Gene

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)

Additional Variant Information for GLB1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GLB1 Gene

MalaCards: The human disease database

(27) MalaCards diseases for GLB1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gm1-gangliosidosis, type i
  • gangliosidosis, generalized gm1, type i
gm1-gangliosidosis, type ii
  • gangliosidosis, generalized gm1, juvenile type
gm1-gangliosidosis, type iii
  • gangliosidosis, generalized gm1, adult type
mucopolysaccharidosis, type ivb
  • mps4b
gm1 gangliosidosis
  • beta-galactosidase-1 deficiency
- 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:24737316, ECO:0000269 PubMed:25936995, ECO:0000269 PubMed:8213816, ECO:0000269 Ref.28, ECO:0000269 Ref.31}. 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:24737316, 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:24737316, ECO:0000269 PubMed:25936995, ECO:0000269 PubMed:8198123, ECO:0000269 Ref.28, ECO:0000269 Ref.30}. 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.

Additional Disease Information for GLB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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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 23 54
  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 23 54
  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 23 54
  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 23 54
  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 23 54

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