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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC4A1AP
solute carrier family 4 member 1 adaptor protein
Chromosome 2 · 2p23.3
NCBI Gene: 22950Ensembl: ENSG00000163798.15HGNC: HGNC:13813UniProt: Q9BWU0
85PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleoplasmmRNA bindingnucleusneurodegenerative diseasediverticular diseasespinal stenosisanxiety disorder
✦AI Summary

SLC4A1AP (solute carrier family 4 member 1 adaptor protein), also known as kanadaptin, is a multifunctional nucleocytoplasmic shuttling protein with roles in cell signaling and protein adaptation. Primary function: SLC4A1AP localizes to both the nucleus and mitochondria 1, with a functional nuclear localization sequence recognized by importin-alpha/beta for nuclear import 2. The protein contains a forkhead-associated (FHA) domain that recognizes phosphopeptides, suggesting involvement in phosphorylation-mediated signaling pathways 3. Originally identified as a binding partner for kidney anion exchanger 1 (kAE1), human SLC4A1AP does not functionally interact with kAE1 in transfected cells and does not affect its trafficking 4. Mechanism: SLC4A1AP exhibits nuclear export activity and is highly expressed in tissues lacking kAE1, indicating broader cellular roles beyond anion exchanger adaptation 1. Disease relevance: A missense variant (rs9678851) in SLC4A1AP is genome-wide significantly associated with blood pressure regulation, identified through meta-analyses of 475,000 individuals 5. Additionally, SLC4A1AP alterations correlate with survival outcomes in laryngopharyngeal cancers with perineural/angiolymphatic invasion 6. Clinical significance: SLC4A1AP demonstrates stable gene expression in non-cancerous kidney biopsies, making it suitable as a reference gene for normalization in qPCR studies 7.

Sources cited
1
SLC4A1AP localizes to nuclei and mitochondria, is widely expressed in tissues, and exhibits nuclear export activity
PMID: 12800979
2
SLC4A1AP contains functional nuclear localization sequences recognized by importin-alpha/beta for nuclear import
PMID: 11772400
3
SLC4A1AP FHA domain recognizes phosphopeptides, indicating involvement in phosphorylation-mediated signaling
PMID: 25197798
4
Human SLC4A1AP does not interact with kAE1 and does not affect its trafficking to plasma membrane
PMID: 15764369
5
SLC4A1AP missense variant rs9678851 is genome-wide significantly associated with blood pressure regulation
PMID: 29030403
6
SLC4A1AP alterations correlate with survival in laryngopharyngeal cancers with perineural/angiolymphatic invasion
PMID: 31310629
7
SLC4A1AP shows stable expression in non-cancerous kidney biopsies suitable for use as reference gene
PMID: 34882702
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
diverticular diseaseOpen Targets
0.27Weak
spinal stenosisOpen Targets
0.09Suggestive
anxiety disorderOpen Targets
0.08Suggestive
clonal hematopoiesisOpen Targets
0.06Suggestive
lower respiratory tract diseaseOpen Targets
0.04Suggestive
hair colorOpen Targets
0.03Suggestive
androgenetic alopeciaOpen Targets
0.03Suggestive
basal cell carcinomaOpen Targets
0.02Suggestive
smoking initiationOpen Targets
0.02Suggestive
hypertrophic cardiomyopathyOpen Targets
0.02Suggestive
urolithiasisOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
leukoplakiaOpen Targets
0.01Suggestive
distal renal tubular acidosisOpen Targets
0.00Suggestive
irritable bowel syndromeOpen Targets
0.00Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.00Suggestive
atrial fibrillationOpen Targets
0.00Suggestive
hypertensionOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC4A1Protein interaction95%OSGEPProtein interaction95%ZRSR2Protein interaction74%
Tissue Expression6 tissues
Brain
100%
Heart
78%
Bone Marrow
55%
Ovary
51%
Lung
49%
Liver
43%
Gene Interaction Network
Click a node to explore
SLC4A1APSLC4A1OSGEPZRSR2
PROTEIN STRUCTURE
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PDB4H87 · 1.55 Å · X-ray
View on RCSB ↗
RankingsWhere SLC4A1AP stands among ~20K protein-coding genes
  • #5,639of 20,598
    Most Researched85
Genes detectedSLC4A1AP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Molecular prognosticators in clinically and pathologically distinct cohorts of head and neck squamous cell carcinoma-A meta-analysis approach.
PMID: 31310629
PLoS One · 2019
1.00
2
Variable expression of eighteen common housekeeping genes in human non-cancerous kidney biopsies.
PMID: 34882702
PLoS One · 2021
0.90
3
New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals.
PMID: 29030403
Circ Cardiovasc Genet · 2017
0.80
4
Human kanadaptin and kidney anion exchanger 1 (kAE1) do not interact in transfected HEK 293 cells.
PMID: 15764369
Mol Membr Biol · 2004
0.70
5
Mitochondrial and nuclear localization of kanadaptin.
PMID: 12800979
Eur J Cell Biol · 2003
0.60