GLB1 - galactosidase beta 1 Gene
Also Known as EBP; ELNR1; MPS4B
Species: Homo sapiens
About GLB1
This gene has 19 transcripts (splice variants), 202 orthologues, 3 paralogues and is associated with 9 phenotypes. Ubiquitous expression in thyroid (RPKM 28.5), placenta (RPKM 24.5) and 25 other tissues.
Summary
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]
GLB1 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_000404.4 | NP_000395.3 | beta-galactosidase isoform a preproprotein |
| NM_001079811.3 | NP_001073279.2 | beta-galactosidase isoform b |
| NM_001135602.3 | NP_001129074.2 | beta-galactosidase isoform c precursor |
| NM_001317040.2 | NP_001303969.2 | beta-galactosidase isoform d precursor |
| NM_001393580.1 | NP_001380509.1 | beta-galactosidase isoform e precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables beta-galactosidase activity |
IDA
IDA: Inferred from direct assay
|
11927518 | GOA |
| enables beta-galactosidase activity |
IMP
IMP: Inferred from mutant phenotype
|
25936995 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15498789 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
22128166 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in carbohydrate metabolic process |
IDA
IDA: Inferred from direct assay
|
11927518 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
11927518 | GOA |
GLB1 Protein Structure
Glyco_hydro_35: Glycosyl hydrolases family 35 (40 - 356)
- 0
- 200
- 400
- 600
- 677 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
beta-galactosidase |
|
GLB1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GLB1 | P16278 | SLC10A6 | Homo sapiens | Q3KNW5 | 32296183 | |
|
Intra
|
GLB1 | P16278 | SLC10A6 | Homo sapiens | Q3KNW5 | 32296183 | |
|
Intra
|
GLB1 | P16278 | SLC10A6 | Homo sapiens | Q3KNW5 | 32296183 | |
|
Intra
|
GLB1 | P16278 | SLC7A1 | Homo sapiens | P30825 | 32296183 | |
|
Intra
|
GLB1 | P16278 | SLC7A1 | Homo sapiens | P30825 | 32296183 | |
|
Intra
|
GLB1 | P16278 | SLC7A1 | Homo sapiens | P30825 | 32296183 | |
|
Intra
|
GLB1 | P16278 | GOLM1 | Homo sapiens | Q8NBJ4 | 32296183 | |
|
Intra
|
GLB1 | P16278 | GOLM1 | Homo sapiens | Q8NBJ4 | 32296183 | |
|
Intra
|
GLB1 | P16278 | GOLM1 | Homo sapiens | Q8NBJ4 | 32296183 | |
|
Intra
|
GLB1 | P16278 | SLC30A2 | Homo sapiens | Q9BRI3 | 32296183 | |
|
Intra
|
GLB1 | P16278 | SLC30A2 | Homo sapiens | Q9BRI3 | 32296183 | |
|
Intra
|
GLB1 | P16278 | SLC30A2 | Homo sapiens | Q9BRI3 | 32296183 |
Recombinant GLB1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70303 | Beta-galactosidase/GLB1 Protein, Human (HEK293, His) | P16278-1 (L24-V677) | ≥ 95%, as determined by reducing SDS-PAGE. |
GLB1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83071 | GLB1/Beta-galactosidase Antibody (YA2816) | WB, FC | Human, Mouse, Rat |
| HY-P85871 | GLB1/Beta-galactosidase Antibody (YA5563) | WB, ICC/IF, ELISA | Human, Mouse, Rat |
| HY-P86441 | GLB1/Beta-galactosidase Antibody (YA6133) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Gm1-Gangliosidosis, Type I |
|
|
| Gm1-Gangliosidosis, Type Ii |
|
|
| Gm1-Gangliosidosis, Type Iii |
|
|
| Mucopolysaccharidosis, Type Ivb |
|
|
| Gm1 Gangliosidosis |
|
|
| Glb1-Related Disorders |
|
|
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
|
| Spastic Ataxia |
|
|
| Gangliosidosis |
|
|
| Mucopolysaccharidosis Iv |
|
|
| Lysosomal Storage Disease |
|
|
| Glycoproteinosis |
|
|
| Galactosialidosis |
|
|
| Hurler Syndrome |
|
|
| Cerebral Lipidosis |
|
|
| Mongolian Spot |
|
|
| Scheie Syndrome |
|
|
| Gm2-Gangliosidosis, Ab Variant |
|
|
| Mucopolysaccharidosis, Type Iva |
|
|
| Dystonia |
|
|
| Sphingolipidosis |
|
|
| Sandhoff Disease |
|
|
| Gm2 Gangliosidosis |
|
|
| Mucopolysaccharidosis, Type Iiid |
|
|
| Costello Syndrome |
|
|
| Mucopolysaccharidosis-Plus Syndrome |
|
|
| Lactase Deficiency, Congenital |
|
|
| Mucopolysaccharidosis, Type Iiib |
|
|
| Fucosidosis |
|
|
| Mucopolysaccharidosis, Type Iiic |
|
|
| Tay-Sachs Disease |
|
|
| Mucopolysaccharidosis, Type Vi |
|
|
| Gingival Hypertrophy |
|
|
| Krabbe Disease |
|
|
| Mucopolysaccharidosis, Type Vii |
|
|
| Mucopolysaccharidosis Iii |
|
|
| Mucopolysaccharidosis, Type Iiia |
|
|
| Mucolipidosis |
|
|
| Lactose Intolerance |
|
|
| Mucopolysaccharidosis, Type Ii |
|
|
| Metachromatic Leukodystrophy |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
|
| Osteochondrodysplasia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | GLB1 | VGNC | VGNC:97179 |
| Mus musculus | GLB1 | MGD | MGI:88151 |
| Bos taurus | GLB1 | VGNC | VGNC:29391 |
| Macaca mulatta | GLB1 | VGNC | VGNC:84176 |
| Canis familiaris | GLB1 | VGNC | VGNC:41249 |
| Rattus norvegicus | GLB1 | RGD | RGD:1597145 |
| Others | GLB1 | NCBI |