SLC45A1: Solute Carrier Family 45 Member 1
A glucose transporter with roles in neurological development and disease
Gene Information Card
| Symbol | SLC45A1 |
|---|---|
| Full Name | Solute carrier family 45 member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.23 |
| NCBI Gene ID | 23766 ncbi.nlm.nih.gov/gene/23766 |
| Ensembl ID | ENSG00000162426 |
| UniProt ID | Q9BRX2 |
| OMIM ID | 605763 |
| HGNC ID | 29350 |
| Aliases | DEE32, EIEE32, SLC45A1 |
Description
SLC45A1 encodes a member of the solute carrier family 45, functioning as a glucose transporter. The protein is predominantly expressed in the brain and is involved in glucose homeostasis and neurodevelopment. Mutations in this gene are associated with developmental and epileptic encephalopathy 32 (DEE32) and early infantile epileptic encephalopathy 32 (EIEE32).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy 32 (DEE32) | Loss-of-function mutations impair glucose transport in neurons, leading to energy deficiency and abnormal neuronal excitability. | ClinVar, OMIM |
| Early infantile epileptic encephalopathy 32 (EIEE32) | Same mechanism as DEE32; biallelic mutations cause severe neurodevelopmental delay and seizures. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 4.2 | Low |
| Adrenal gland | 3.1 | Low |
| Thyroid | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.9 | Neuronal model |
| U-87 MG (glioblastoma) | 6.3 | Glial model |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.958C>T (p.Arg320*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Loss of function; impaired glucose transport |
| c.1462C>T (p.Arg488Trp) | Missense | Rare | Loss of function; reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in SLC45A1 result in loss of glucose transport activity, leading to neuronal energy deficit.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • glucose transmembrane transporter activity (GO:0005355) | • glucose transmembrane transport (GO:0015758) |
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
Pathways
• Glucose transport (Reactome: R-HSA-189200)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
SLC45A1 is a 12-transmembrane domain protein that functions as a facilitative glucose transporter. It is highly expressed in the brain, particularly in neurons, and is essential for maintaining cellular glucose uptake. Loss-of-function mutations cause severe neurodevelopmental disorders characterized by early-onset epilepsy and intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC45A1 Knockout HEK293 Cell Line | EDJ-KQ10796 | Human | 50651 | Details Get a Quote |
| SLC45A1 Knockout A-549 Cell Line | EDJ-KQ38438 | Human | 50651 | Details Get a Quote |
| SLC45A1 Knockout HCT 116 Cell Line | EDJ-KQ38439 | Human | 50651 | Details Get a Quote |
| SLC45A1 Knockout HeLa Cell Line | EDJ-KQ56179 | Human | 50651 | Details Get a Quote |
