GLB1L3: Galactosidase Beta 1 Like 3
Gene encoding a beta-galactosidase-like protein with potential roles in glycosphingolipid metabolism and lysosomal function.
Gene Information Card
| Symbol | GLB1L3 |
|---|---|
| Full Name | Galactosidase Beta 1 Like 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q25 |
| NCBI Gene ID | 11254 ncbi.nlm.nih.gov/gene/11254 |
| Ensembl ID | ENSG00000166123 |
| UniProt ID | Q8N5I2 |
| OMIM ID | 612550 |
| HGNC ID | 25083 |
| Aliases | MGC12966, bA63I5.1 |
Description
GLB1L3 (Galactosidase Beta 1 Like 3) is a protein-coding gene located on chromosome 11q25. It encodes a member of the glycosyl hydrolase 35 family, which includes beta-galactosidases involved in the hydrolysis of terminal beta-galactosyl residues from glycoproteins, glycolipids, and glycosaminoglycans. The protein is predicted to localize to lysosomes and may participate in glycosphingolipid catabolism. Expression data suggest broad tissue distribution with highest levels in testis and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Medium |
| Liver | 6.1 | Low |
| Brain | 4.3 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Highest in available cell lines |
| HeLa | 9.5 | Moderate |
| K562 | 7.2 | Moderate |
| HepG2 | 5.0 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • beta-galactosidase activity (GO:0004565) | • carbohydrate metabolic process (GO:0005975) |
| • lysosome (GO:0005764) |
Pathways
• Glycosphingolipid metabolism (KEGG: hsa00600)
• Lysosome (KEGG: hsa04142)
Protein Summary
The GLB1L3 protein (UniProt Q8N5I2) is a 648-amino acid polypeptide with a predicted molecular mass of ~73 kDa. It contains a glycosyl hydrolase 35 domain and is predicted to function as a lysosomal beta-galactosidase. Structural homology suggests it may cleave terminal beta-galactose residues from glycoconjugates. No crystal structure is currently available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLB1L3 Knockout HEK293 Cell Line | EDJ-KQ7402 | Human | 112937 | 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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