C1GALT1C1L
C1GALT1 Specific Chaperone 1 Like
Gene Information Card
| Symbol | C1GALT1C1L |
|---|---|
| Full Name | C1GALT1 specific chaperone 1 like |
| Gene Type | protein-coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000229807 |
| UniProt ID | A0A1B0GTV4 |
| OMIM ID | - |
| HGNC ID | HGNC:40016 |
| Aliases | C1GALT1C1-like, C1GALT1C1L1 |
Description
C1GALT1C1L (C1GALT1 specific chaperone 1 like) is a protein-coding gene located on the X chromosome. It is a paralog of C1GALT1C1, which encodes a chaperone essential for the proper folding and activity of C1GALT1, a key enzyme in mucin-type O-glycosylation. The function of C1GALT1C1L is not fully characterized, but it is predicted to play a role in protein glycosylation based on sequence similarity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.5 | Low |
| Lymph node | 0.3 | Low |
| Spleen | 0.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.1 | Low expression |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants | - | - | - |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Protein Summary
The C1GALT1C1L protein is predicted to be a chaperone-like molecule, potentially involved in the regulation of O-glycosylation. Its exact biological role remains unclear due to limited experimental data.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C1GALT1C1L Knockout HEK293 Cell Line | EDJ-KQ12583 | Human | 728819 | Details Get a Quote |
| C1GALT1C1L Knockout HeLa Cell Line | EDJ-KQ40312 | Human | 728819 | Details Get a Quote |
| C1GALT1C1L Knockout A-549 Cell Line | EDJ-KQ41609 | Human | 728819 | Details Get a Quote |
| C1GALT1C1L Knockout HCT 116 Cell Line | EDJ-KQ77550 | Human | 728819 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
