GLB1 Gene
protein-coding GIFtS: 70
GCID: GC03M033013
|
|
galactosidase, beta 1(Previous names: elastin receptor 1, 67kDa, elastin receptor 1 (67kD) )
(Previous symbol: ELNR1)
| |
Aliases
for GLB1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Galactosidase, Beta 11 2 | | MPS4B2 5 | | ELNR11 2 3 | | Elastin Receptor 1 (67kD)1 | | EBP1 2 | | Beta-Galactosidase1 | | Elastin Receptor 1, 67kDa1 2 | | Lactase3 | | Acid Beta-Galactosidase2 3 | | Lactase3 | | EC 3.2.1.233 8 | | Elastin Receptor 13 |
Export aliases for GLB1 gene to outside databasesPrevious GC identifers: GC03M032344 GC03M032884 GC03M033009 |
Summaries
for GLB1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for GLB1:
This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from gangliosidesubstrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome.Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Oct 2008)
UniProtKB/Swiss-Prot: BGAL_HUMAN, P16278Function: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycansFunction: Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation ofextracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to theelastin-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, associateswith tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions oftropoelastin and its assembly into elastic fibers
Gene Wiki entry for GLB1
|
Genomic Views
for GLB1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GLB1 gene promoter:
HEN1 GATA-3 GCNF HSF2 GATA-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for GLB1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GLB1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p21.33 Ensembl cytogenetic band: 3p22.3 HGNC cytogenetic band: 3p22.3GLB1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M033013: view genomic region
(about GC identifiers)
Start:
|
33,038,100 bp from pter |
End:
|
33,138,722 bp from pter |
Size:
|
100,623 bases |
Orientation:
|
minus strand |
|
Proteins
for GLB1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BGAL_HUMAN, P16278 (See
protein sequence)Recommended Name: Beta-galactosidase precursor Size: 677 amino acids; 76075 Da
Subcellular location: Isoform 1: Lysosome
Subcellular location: Isoform 2: Cytoplasm, perinuclear region. Note=Localized to the perinuclear area of the cytoplasmbut not to lysosomes
2 PDB 3D structures from  and Proteopedia  for GLB1:3THC (3D)
3THD (3D)
Secondary accessions: B2R7H8 B7Z6B0 P16279Alternative splicing: 3 isoforms: P16278-1 P16278-2, P16279-1 P16278-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for GLB1: NX_P16278
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P16278
4/22 DME Specific Peptides for GLB1 (P16278) (see all 22)
GLB1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_000395.2 NP_001073279.1 NP_001129074.1
ENSEMBL proteins: ENSP00000382333 ENSP00000306920 ENSP00000305920 ENSP00000411813 ENSP00000407365 ENSP00000401250 ENSP00000411769 ENSP00000403264 ENSP00000387989 ENSP00000393377 Reactome Protein details: P16278
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
GLB1 for ontologies About GeneDecksing
GLB1 Antibody Products:
Assay Products for GLB1: |
Protein
Domains /
Families
for GLB1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GLB1 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry P16278ProtoNet protein and cluster: P16278 1 Blocks protein family: IPB001944 Glycoside hydrolase
UniProtKB/Swiss-Prot: BGAL_HUMAN, P16278Similarity: Belongs to the glycosyl hydrolase 35 family |
Function
for GLB1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: BGAL_HUMAN, P16278Function: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycansFunction: Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation ofextracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to theelastin-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, associateswith tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions oftropoelastin and its assembly into elastic fibersCatalytic activity: Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides Genatlas biochemistry entry for GLB1:galactosidase,beta-1,lysosomal,acting or GM1 gangliosides,glycoproteins,oligosaccharides,keratan sulfate,stepwisedegradation of sphingolipids,glycosaminoglycans (mucopolysaccharides),including a 67kDa enzymatically inactivealternatively spliced variant identical to elastin/laminin binding protein
Enzyme Number (IUBMB): EC 3.2.1.231 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GLB1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GLB1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): GLB1 (NM_001135602) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GLB1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLB1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLB1 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
GLB1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for GLB1:
Animal Models:
Mouse knock-out Glb1tm1Azzo for GLB1
12 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Glb1):
GLB1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for GLB1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | MPS IIIC - Sanfilippo syndrome C | | | 2 | Sphingolipid metabolism | | | 3 | Metabolism | | | 4 | Galactose metabolism | | | 5 | Disease | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for GLB1
1  BioSystems Pathway for GLB1
5/23 
Reactome Pathways for GLB1 (see all 23)
5/7 
Kegg Pathways (Kegg details for GLB1) (see all 7):
GLB1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GLB1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/77 Interacting proteins for GLB1 (P162781, 2, 3 ENSP000003069204) via UniProtKB, MINT, STRING, and/or I2D (see all 77)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005975 | carbohydrate metabolic process |
TAS | -- | | GO:0006027 | glycosaminoglycan catabolic process |
TAS | -- | | GO:0006644 | phospholipid metabolic process |
TAS | -- | | GO:0006665 | sphingolipid metabolic process |
TAS | -- | | GO:0006687 | glycosphingolipid metabolic process |
TAS | -- |
GLB1 for ontologies About GeneDecksing
|
Drugs & Compounds
for GLB1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
GLB1 for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for GLB1 |
 Browse Tocris compounds for GLB1
10/73 HMDB Compounds for GLB1 (see all 73) About this table
9 Novoseek chemical compound relationships for GLB1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| vgvapg |
92 |
5 |
11084020 (2), 17030689 (1), 18076073 (1) |
| lactose |
58.8 |
14 |
11084020 (1), 15653554 (1), 17394124 (1), 19617625 (1) (see all 7) |
| chondroitin sulfate |
48.6 |
15 |
8635505 (3), 14695326 (2), 10712202 (1), 18485243 (1) |
| sulfatide |
47.3 |
2 |
2320574 (1), 8099782 (1) |
| ganglioside |
47.2 |
6 |
8400826 (2), 2320574 (1), 10942779 (1), 8099782 (1) |
| keratan sulfate |
45.2 |
2 |
16314480 (2) |
| chondroitin |
39.8 |
3 |
10712202 (1), 12561057 (1) |
| succinate |
12.4 |
1 |
1909633 (1) |
| thymidine |
0 |
2 |
9596414 (1) |
Search CenterWatch for drugs/clinical trials and news about GLB1 / BGAL
|
Transcripts
for GLB1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for GLB1 gene (3 alternative transcripts): NM_000404.2 NM_001079811.1 NM_001135602.1 Unigene Cluster for GLB1: Galactosidase, beta 1 Hs.443031 [show with all ESTs]Unigene Representative Sequence: NM_00103977018/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20): ENST00000399402(uc003cfh.1) ENST00000307363(uc003cfi.1 uc003cfj.1 uc011axk.1)
ENST00000307377 ENST00000461475 ENST00000497796 ENST00000467571 ENST00000473477
ENST00000482097 ENST00000485698 ENST00000481581 ENST00000490658 ENST00000498537
ENST00000415454 ENST00000446732 ENST00000438227 ENST00000440656 ENST00000464355
ENST00000450835
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GLB1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GLB1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): GLB1 (NM_001135602) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GLB1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLB1 |
Additional cDNA sequence: AK097007.1 AK126979.1 AK128242.1 AK130133.1 AK222763.1 AK223091.1 AK298985.1 AK300021.1 AK300753.1 AK312988.1 BC007493.2 BC136872.1 BC136873.1 BT007147.1 M22590.1 M27507.1 M27508.1 M34423.1 23 DOTS entries: DT.86849905 DT.92445848 DT.100029997 DT.92445860 DT.75171759 DT.120909652 DT.95361373 DT.95361354 DT.91872447 DT.100826313 DT.100767813 DT.92445844 DT.100029995 DT.100826297 DT.100826300 DT.100826306 DT.100826315 DT.120909636 DT.120909685 DT.92445853 DT.95361355 DT.95361371 DT.92416179 24/464 AceView cDNA sequences (see all 464): BM811658 CR613034 AI912856 T29896 AA306280 AW662446 AK097007 CK819875 AI128554 CA306980 BP375287 CA395772 W88531 AI126127 AA488380 AI417398 BF941612 BQ004771 CR622020 CA450207 BM977903 BM721016 BI821627 BE535315
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for GLB1 (see all 6) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for GLB1
|
Expression
for GLB1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| GLB1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTACCTTTTT
About this image
See GLB1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GLB1
SOURCE GeneReport for Unigene cluster: Hs.443031
SABiosciences Expression via Pathway-Focused PCR Arrays including GLB1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GLB1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GLB1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GLB1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GLB1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLB1 |
Orthologs
for GLB1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for GLB1 gene from 8/26 species (see all 26) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Glb11 , 5 |
galactosidase, beta 11, 5 |
80.19(n)1
78.46(a)1 |
|
9 (64.40 cM)5
120911 NM_009752.11 NP_033882.11
1144011195 |
chicken
(Gallus gallus) |
Aves |
Q5ZLM4_CHICK6 |
galactosidase, beta 1 |
68(a) |
1 ↔ 1 |
2(44453433-44498750) |
lizard
(Anolis carolinensis) |
Reptilia |
GLB16 |
-- |
69(a) |
1 ↔ 1 |
GL343324.1(588624-633521) |
zebrafish
(Danio rerio) |
Actinopterygii |
glb11 |
galactosidase, beta 1 |
64.91(n)
64.81(a) |
|
548343 NM_001017547.1 NP_001017547.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Ect33
Gal1 |
beta-galactosidase3
beta galactosidase1 |
42(a)
(best of 2)3
49.51(n)1
43.63(a)1 |
|
87A43
338391 NM_135134.21 NP_608978.21 |
worm
(Caenorhabditis elegans) |
Secernentea |
T19B10.33 |
beta-galactosidase |
40(a)
(best of 2) |
|
V(11225572-11228886) -- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
BGAL171 |
beta-galactosidase 17 |
50.17(n)
45.14(a) |
|
843630 NM_105957.2 NP_565051.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.145702 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
78.82(n) |
|
AK068572.1 |
ENSEMBL Gene Tree for GLB1 (if available)
TreeFam Gene Tree for GLB1 (if available) |
Paralogs
for GLB1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for GLB1 gene
- GLB1L2 GLB1L32 GLB1L22
3 SIMAP similar genes for GLB1 using alignment to 9 protein entries: BGAL_HUMAN (see all proteins):GLB1L GLB1L2 GLB1L3
GLB1 for paralogs About GeneDecksing
|
Genomic Variants
for GLB1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for GLB1 (33038100 - 33138722 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GLB1
1 Indel: 11223
Human Gene Mutation Database (HGMD): GLB1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GLB1 |
|
Disorders
/ Diseases
for GLB1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GLB1 for disorders About GeneDecksing
OMIM gene information: 611458
OMIM disorders: 230500 230600 230650 253010
UniProtKB/Swiss-Prot: BGAL_HUMAN, P16278
Defects in GLB1 are the cause of GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]; also known as infantileGM1-gangliosidosis. GM1-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulationof GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1G1 ischaracterized by onset within the first three months of life, central nervous system degeneration, coarse facialfeatures, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressivepsychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first andsecond year of life Defects in GLB1 are the cause of GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]; also known as lateinfantile/juvenile GM1-gangliosidosis. GM1G2 is characterized by onset between ages 1 and 5. The main symptom islocomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures. Patients do not display theskeletal changes associated with the infantile form, but they nonetheless excrete elevated amounts of beta-linkedgalactose-terminal oligosaccharides. Inheritance is autosomal recessive Defects in GLB1 are the cause of GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]; also known as adult orchronic GM1-gangliosidosis. GM1G3 is characterized by a variable phenotype. Patients show mild skeletal abnormalities,dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit caninitially be mild or absent but progresses over time. Inheritance is autosomal recessive Defects in GLB1 are the cause of mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]; also known as Morquiosyndrome B. MPS4B is a form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage diseasecharacterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical featuresinclude short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there isno 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 thirddecade of life
20/51  diseases for GLB1 (see all 51): About MalaCardsgangliosidosis gangliosidosis gm1 mucopolysaccharidosis type ivb (morquio) lysosomal storage disease
corneal clouding lactose intolerance metachromatic leukodystrophy abdominal aortic aneurysm
sialidosis duchenne muscular dystrophy morquio syndrome b type 2 diabetes mellitus
aortic aneurysm hurler syndrome chronic obstructive pulmonary disease mouth disease
short stature galactosialidosis mucopolysaccharidosis krabbe disease
2 diseases from the University of Copenhagen DISEASES database for GLB1:Gangliosidosis Metachromatic leukodystrophy 10/12 Novoseek disease relationships for GLB1 gene (see all 12) About this table
Human Genome Epidemiology (HuGE) Navigator: GLB1 (1 document)
Export disorders for GLB1 gene to outside databases
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Publications
for GLB1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for GLB1 gene, integrated from 9 sources (see all 173):
(articles sorted by number of sources associating them with GLB1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning, sequencing, and expression of cDNA for human beta-galactosidase. (PubMed id 3143362)1, 2, 3 Oshima A....Suzuki Y. (1988)
- Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. (PubMed id 15714521)1, 2, 9 Caciotti A....Morrone A. (2005)
- Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies. (PubMed id 16538002)1, 2, 9 Tatano Y.... Itoh K. (2006)
- Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. (PubMed id 10737981)1, 2, 9 Morrone A.... Zammarchi E. (2000)
- Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. (PubMed id 12644936)1, 2, 9 Caciotti A....Morrone A. (2003)
- The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein. (PubMed id 9497360)1, 2, 9 Privitera S.... Hinek A. (1998)
- Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. (PubMed id 17661814)1, 2, 9 Gort L.... Chabas A. (2007)
- Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. (PubMed id 10841810)1, 2, 9 Hinek A.... Callahan J.W. (2000)
- The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta- galactosidase. (PubMed id 8383699)1, 2, 9 Hinek A.... Callahan J. (1993)
- Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. (PubMed id 17309651)1, 2, 9 Santamaria R.... Vilageliu L. (2007)
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External Searches for GLB1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing GLB1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing GLB1 gene
(According to HUGE)
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Specialized Databases showing GLB1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for GLB1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLB1 | | Wikipedia | http://en.wikipedia.org/wiki/Beta-galactosidase |
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| Patent Information for GLB1 gene:
Search GeneIP for patents involving GLB1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for GLB1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for GLB1 | | OriGene shRNA RFP for GLB1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GLB1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GLB1 | | | OriGene Protein Over-expression Lysate for GLB1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for GLB1 | | OriGene 3'-UTR Clone for GLB1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GLB1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GLB1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for GLB1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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