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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SLC51A
solute carrier family 51 member A
Chromosome 3 · 3q29
NCBI Gene: 200931Ensembl: ENSG00000163959.11HGNC: HGNC:29955UniProt: Q86UW1
25PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingbile acid secretionplasma membranebasolateral plasma membranespondylometaphyseal dysplasia-cone-rod dystrophy syndromecholestasis, progressive familial intrahepatic, 6lipodystrophy, congenital generalized, type 5Loss of consciousness
✦AI Summary

SLC51A encodes OSTα (organic solute transporter alpha), an essential component of the OSTα-OSTβ heterodimeric transporter complex that serves as the primary intestinal basolateral bile acid export mechanism 1. The functional transporter requires heterodimerization of OSTα (encoded by SLC51A) with OSTβ (encoded by SLC51B) for proper protein stability, post-translational modification, and plasma membrane delivery 1. This transporter operates via facilitated diffusion and can mediate bidirectional transport depending on electrochemical gradients 1. Beyond bile acids, the complex transports conjugated steroids and structurally-related molecules across basolateral membranes of epithelial cells, playing a central role in intestinal bile acid absorption and dietary lipid absorption 1. SLC51A expression is regulated by farnesoid X receptor (FXR), with activated FXR directly binding to SLC51A promoter regions 2. Clinical significance includes associations with progressive familial intrahepatic cholestasis type 6, with pathogenic SLC51A mutations identified in Pakistani pediatric cholestasis patients 3. The transporter also shows age-dependent expression patterns in human seminal vesicles 4 and responds to therapeutic bile acid treatments in preventing cholestasis 5.

Sources cited
1
SLC51A encodes OSTα component of heterodimeric bile acid transporter, requires heterodimerization for function, operates via facilitated diffusion
PMID: 23506901
2
SLC51A expression is regulated by FXR through direct promoter binding
PMID: 35767918
3
Pathogenic SLC51A mutations identified in pediatric cholestasis patients
PMID: 37697751
4
Age-dependent expression in human seminal vesicles
PMID: 35456310
5
SLC51A responds to therapeutic bile acid treatments in preventing cholestasis
PMID: 41043692
Disease Associationsⓘ21
spondylometaphyseal dysplasia-cone-rod dystrophy syndromeOpen Targets
0.51Moderate
cholestasis, progressive familial intrahepatic, 6Open Targets
0.51Moderate
lipodystrophy, congenital generalized, type 5Open Targets
0.40Weak
Loss of consciousnessOpen Targets
0.28Weak
genetic disorderOpen Targets
0.19Weak
Retinal dystrophyOpen Targets
0.11Weak
chylomicron retention diseaseOpen Targets
0.05Suggestive
familial hypercholesterolemiaOpen Targets
0.04Suggestive
bile acid malabsorption, primary, 1Open Targets
0.04Suggestive
primary ovarian insufficiencyOpen Targets
0.04Suggestive
DiarrheaOpen Targets
0.04Suggestive
Congenital chronic diarrhea with protein-losing enteropathyOpen Targets
0.04Suggestive
congenital diarrhea 7 with exudative enteropathyOpen Targets
0.04Suggestive
hypertriglyceridemia 2Open Targets
0.04Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
osteoarthritisOpen Targets
0.04Suggestive
glycogen storage disease VIOpen Targets
0.04Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.04Suggestive
Cholestasis, progressive familial intrahepatic, 6UniProt
Pathogenic Variants1
NM_152672.6(SLC51A):c.556C>T (p.Gln186Ter)Pathogenic
Cholestasis, progressive familial intrahepatic, 6
☆☆☆☆2021→ Residue 186
View on ClinVar ↗
Related Genes
SLC51BProtein interaction80%CYP7A1Protein interaction80%CYP8B1Protein interaction80%FABP6Protein interaction80%NR0B2Protein interaction80%ABCB11Protein interaction80%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
12%
Ovary
7%
Lung
6%
Heart
5%
Brain
2%
Gene Interaction Network
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SLC51ASLC51BCYP7A1CYP8B1FABP6NR0B2ABCB11
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q86UW1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.47–0.92]
RankingsWhere SLC51A stands among ~20K protein-coding genes
  • #13,075of 20,598
    Most Researched25
  • #5,318of 5,498
    Most Pathogenic Variants1
  • #8,507of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedSLC51A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Farnesoid X receptor protects against cisplatin-induced acute kidney injury by regulating the transcription of ferroptosis-related genes.
PMID: 35767918
Redox Biol · 2022
1.00
2
The heteromeric organic solute transporter, OSTα-OSTβ/SLC51: a transporter for steroid-derived molecules.
PMID: 23506901
Mol Aspects Med · 2013
0.90
3
Targeting the Four Pillars of Enterohepatic Bile Salt Cycling; Lessons From Genetics and Pharmacology.
PMID: 33222321
Hepatology · 2021
0.80
4
The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.
PMID: 37697751
J Pak Med Assoc · 2023
0.70
5
Membrane Transporters and Carriers in Human Seminal Vesicles.
PMID: 35456310
J Clin Med · 2022
0.60