GLB1L
Galactosidase Beta 1 Like
Gene Information Card
| Symbol | GLB1L |
|---|---|
| Full Name | Galactosidase Beta 1 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 378805 ncbi.nlm.nih.gov/gene/378805 |
| Ensembl ID | ENSG00000162949 |
| UniProt ID | Q8N7T1 |
| OMIM ID | 612217 |
| HGNC ID | 28235 |
| Aliases | MSTP031, MSTP031-like, bA16L21.2.1 |
Description
GLB1L (galactosidase beta 1 like) is a protein-coding gene located on chromosome 2q35. It encodes a protein that belongs to the glycosyl hydrolase 35 family, which is involved in the hydrolysis of terminal beta-linked galactose residues from glycoproteins and glycolipids. The gene is broadly expressed in multiple tissues, with highest levels in the testis and thyroid. GLB1L is considered a paralog of GLB1 (beta-galactosidase) and may play a role in lysosomal catabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| GM1 gangliosidosis | Potential functional redundancy with GLB1; loss of GLB1L may modify disease severity | Limited; inferred from homology and expression studies |
| Mucopolysaccharidosis type IVB (Morquio B) | Possible compensatory role in beta-galactosidase deficiency | Not directly established; speculative based on sequence similarity |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Adrenal gland | 8.1 | Low |
| Brain | 6.3 | Low |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney; moderate expression |
| HeLa | 7.2 | Cervical carcinoma; low expression |
| K562 | 5.1 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | Rare (MAF <0.01%) | Unknown; predicted damaging by in silico tools |
| c.245C>T (p.Pro82Leu) | Missense | Rare | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • beta-galactosidase activity | • hydrolase activity |
| • hydrolyzing O-glycosyl compounds | • lysosome |
| • carbohydrate metabolic process |
Pathways
• Glycosphingolipid metabolism
• Lysosome
Protein Summary
The GLB1L protein is a 648-amino acid lysosomal enzyme with beta-galactosidase activity. It shares significant sequence homology with GLB1 (beta-galactosidase) and is predicted to catalyze the removal of terminal beta-linked galactose residues. Its precise physiological substrates and tissue-specific functions remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLB1L3 Knockout HEK293 Cell Line | EDJ-KQ7402 | Human | 112937 | Details Get a Quote |
| GLB1L2 Knockout HEK293 Cell Line | EDJ-KQ10542 | Human | 89944 | Details Get a Quote |
| GLB1L Knockout HEK293 Cell Line | EDJ-KQ13607 | Human | 79411 | Details Get a Quote |
| GLB1L2 Knockout A-549 Cell Line | EDJ-KQ37978 | Human | 89944 | Details Get a Quote |
| GLB1L2 Knockout HCT 116 Cell Line | EDJ-KQ37979 | Human | 89944 | Details Get a Quote |
| GLB1L2 Knockout HeLa Cell Line | EDJ-KQ37980 | Human | 89944 | Details Get a Quote |
| GLB1L Knockout A-549 Cell Line | EDJ-KQ42017 | Human | 79411 | Details Get a Quote |
| GLB1L Knockout HCT 116 Cell Line | EDJ-KQ43273 | Human | 79411 | Details Get a Quote |
| GLB1L Knockout HeLa Cell Line | EDJ-KQ43274 | Human | 79411 | Details Get a Quote |
| GLB1L3 Knockout HeLa Cell Line | EDJ-KQ57901 | Human | 112937 | Details Get a Quote |
| GLB1L3 Knockout A-549 Cell Line | EDJ-KQ66394 | Human | 112937 | Details Get a Quote |
| GLB1L3 Knockout HCT 116 Cell Line | EDJ-KQ74820 | Human | 112937 | Details Get a Quote |
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