SLC35A5 Gene - Solute Carrier Family 35 Member A5
Comprehensive genomic and functional analysis of SLC35A5, a nucleotide sugar transporter gene.
Gene Information Card
| Symbol | SLC35A5 |
|---|---|
| Full Name | Solute Carrier Family 35 Member A5 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.1 |
| NCBI Gene ID | 55032 ncbi.nlm.nih.gov/gene/55032 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q8N5M1 |
| OMIM ID | 618759 |
| HGNC ID | 20623 |
| Aliases | FLJ20701, MGC138290 |
Description
SLC35A5 (Solute Carrier Family 35 Member A5) is a protein-coding gene located on chromosome 3q26.1. It encodes a member of the solute carrier family 35 (SLC35) of nucleotide sugar transporters. These transporters are involved in the translocation of nucleotide sugars from the cytosol into the Golgi lumen, a critical step for glycosylation. SLC35A5 is widely expressed and may play a role in cellular glycosylation processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pancreatic, colorectal) | Altered expression; potential role in tumor progression | Expression studies in cancer cell lines and tissues (COSMIC, literature) |
| Developmental disorders | Possible involvement in glycosylation defects | Limited evidence; inferred from SLC35 family function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Low |
| Liver | 8.3 | Low |
| Kidney | 15.1 | Medium |
| Testis | 20.4 | Medium |
| Lung | 9.7 | Low |
| Testis | 12.3 | Medium |
| Kidney | 10.1 | Medium |
| Liver | 8.5 | Low |
| Brain | 7.2 | Low |
| Lung | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.2 | Embryonic kidney cells |
| HeLa | 14.5 | Cervical cancer cells |
| HepG2 | 11.3 | Hepatocellular carcinoma cells |
| K562 | 7.8 | Leukemia cells |
| HeLa | 15.2 | High expression in cervical cancer cell line |
| HepG2 | 9.4 | Moderate expression in liver cancer cell line |
| A549 | 7.8 | Low expression in lung cancer cell line |
| MCF7 | 6.5 | Low expression in breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% (gnomAD) | Unknown; predicted possibly damaging |
| c.890_891insA (frameshift) | Insertion | Not reported | Predicted loss-of-function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in major databases.
Gain of Function (GOF)
No documented gain-of-function mutations in major databases.
Dominant Negative (DN)
No documented dominant-negative mutations in major databases.
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to result in loss of function, potentially impairing nucleotide sugar transport and glycosylation.
Gain of Function (GOF)
No evidence of gain-of-function mutations in SLC35A5.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005459 - UDP-galactose transmembrane transporter activity | • GO:0015780 - nucleotide-sugar transmembrane transport |
| • GO:0016021 - integral component of membrane | • GO:0005794 - Golgi apparatus |
Pathways
• Nucleotide sugar transport (Reactome: R-HSA-425407)
Protein Summary
The SLC35A5 protein (UniProt Q8N5M1) is a multi-pass membrane protein localized to the Golgi apparatus. It functions as a nucleotide sugar transporter, facilitating the import of UDP-galactose and other nucleotide sugars into the Golgi lumen for glycosylation reactions. The protein is predicted to have 10 transmembrane domains and is conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35A5 Knockout HEK293 Cell Line | EDC08375 | Human | 55032 | Details Get a Quote |
| SLC35A5 Knockout HCT 116 Cell Line | EDJ-KQ46038 | Human | 55032 | Details Get a Quote |
| SLC35A5 Knockout HeLa Cell Line | EDJ-KQ46039 | Human | 55032 | Details Get a Quote |
| SLC35A5 Knockout A-549 Cell Line | EDJ-KQ44818 | Human | 55032 | Details Get a Quote |
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