SLC4A1AP: Solute Carrier Family 4 Member 1 Adaptor Protein
A gene encoding a kidney-specific adaptor protein involved in anion exchanger trafficking and linked to renal disease.
Gene Information Card
| Symbol | SLC4A1AP |
|---|---|
| Full Name | Solute Carrier Family 4 Member 1 Adaptor Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 22950 ncbi.nlm.nih.gov/gene/22950 |
| Ensembl ID | ENSG00000115138 |
| UniProt ID | Q9BWU0 |
| OMIM ID | 607343 |
| HGNC ID | 10971 |
| Aliases | KAE1, MGC138207, MGC138209 |
Description
SLC4A1AP encodes a kidney-specific adaptor protein that interacts with the anion exchanger SLC4A1 (band 3) and facilitates its trafficking to the plasma membrane. It is essential for proper acid-base homeostasis in the renal collecting duct.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Distal Renal Tubular Acidosis (dRTA) | Impaired SLC4A1AP function disrupts basolateral targeting of SLC4A1 in kidney α-intercalated cells, reducing acid secretion. | ClinVar, OMIM |
| Kidney Stones (nephrolithiasis) | Secondary to defective acid excretion leading to hypercalciuria and stone formation. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Testis | 1.2 | Low |
| Liver | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.3 | Embryonic kidney cell line |
| HK-2 | 11.0 | Proximal tubule epithelial cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.176C>T (p.Pro59Leu) | Missense | <0.01% | Reduced binding to SLC4A1 |
| c.389G>A (p.Arg130Gln) | Missense | <0.01% | Impaired trafficking |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants reduce or abolish SLC4A1AP-mediated trafficking of SLC4A1 to the basolateral membrane.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Renal cell acid-base transport (Reactome: R-HSA-549132)
• Anion exchanger trafficking (UniProt curated)
Protein Summary
SLC4A1AP is a 45 kDa adaptor protein predominantly expressed in kidney. It contains a C-terminal coiled-coil domain that mediates interaction with the N-terminal cytoplasmic domain of SLC4A1. This interaction is critical for the proper localization of the anion exchanger to the basolateral membrane of α-intercalated cells, enabling bicarbonate reabsorption and acid secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC4A1AP Knockout HEK293 Cell Line | EDJ-KQ51072 | Human | 22950 | Details Get a Quote |
| SLC4A1AP Knockout HeLa Cell Line | EDJ-KQ55661 | Human | 22950 | Details Get a Quote |
| SLC4A1AP Knockout A-549 Cell Line | EDJ-KQ64160 | Human | 22950 | Details Get a Quote |
| SLC4A1AP Knockout HCT 116 Cell Line | EDJ-KQ72606 | Human | 22950 | Details Get a Quote |
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