SLC35A4
Solute Carrier Family 35 Member A4
Gene Information Card
| Symbol | SLC35A4 |
|---|---|
| Full Name | Solute Carrier Family 35 Member A4 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 113829 ncbi.nlm.nih.gov/gene/113829 |
| Ensembl ID | ENSG00000113580 |
| UniProt ID | Q9H0U4 |
| OMIM ID | 612791 |
| HGNC ID | 20621 |
| Aliases | C5orf10, MGC12966, SLC35A4 |
Description
SLC35A4 encodes a member of the solute carrier family 35 (SLC35) of nucleotide sugar transporters. The protein localizes to the Golgi apparatus and endoplasmic reticulum and is involved in the transport of nucleotide sugars into these organelles for glycosylation reactions. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No direct evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Adrenal gland | 9.8 | Medium |
| Liver | 8.1 | Low |
| Kidney | 7.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 12.1 | Moderate expression |
| K562 | 9.4 | Low expression |
| A549 | 8.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% (gnomAD) | Likely loss of start codon |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% (gnomAD) | Unknown significance |
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 variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • Golgi membrane (GO:0000139) | • UDP-galactose transmembrane transporter activity (GO:0005459) |
| • nucleotide-sugar transmembrane transport (GO:0015780) | • integral component of membrane (GO:0016021) |
Pathways
• Nucleotide sugar transport (Reactome: R-HSA-425407)
Protein Summary
SLC35A4 is a 324-amino acid multi-pass transmembrane protein that functions as a nucleotide sugar transporter. It facilitates the import of UDP-galactose and other nucleotide sugars into the Golgi lumen, essential for proper glycosylation of proteins and lipids. The protein contains 10 predicted transmembrane helices and is ubiquitously expressed with highest levels in testis and thyroid.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35A4 Knockout HEK293 Cell Line | EDJ-KQ7433 | Human | 113829 | Details Get a Quote |
| SLC35A4 Knockout A-549 Cell Line | EDJ-KQ32638 | Human | 113829 | Details Get a Quote |
| SLC35A4 Knockout HCT 116 Cell Line | EDJ-KQ32639 | Human | 113829 | Details Get a Quote |
| SLC35A4 Knockout HeLa Cell Line | EDJ-KQ32640 | Human | 113829 | Details Get a Quote |
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