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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SLCO6A1
solute carrier organic anion transporter family member 6A1
Chromosome 5 · 5q21.1
NCBI Gene: 133482Ensembl: ENSG00000205359.10HGNC: HGNC:23613UniProt: A0A140VJU7
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
secondary active transmembrane transporter activitysodium-independent organic anion transportbasolateral plasma membranetransmembrane transportdiabetes mellitustype 2 diabetes mellitusasthmainborn disorder of amino acid metabolism
✦AI Summary

SLCO6A1 encodes OATP6A1, a sodium-independent organic anion transporter localized to the basolateral plasma membrane with secondary active transmembrane transporter activity 1. The protein exhibits gonad-specific expression, particularly in testicular Sertoli cells, spermatogonia, and Leydig cells, with weak signals in epididymis and ovary 1. SLCO6A1 transports diverse substrates including taurocholic acid, dehydroepiandrosterone sulfate, and thyroid hormones (T3, T4), suggesting roles in sex steroid and thyroid hormone regulation during spermatogenesis 1. Beyond its normal gonadal function, SLCO6A1 is aberrantly expressed as a cancer/testis antigen in multiple malignancies: lung (5/10 tumors, 6/11 cell lines), bladder (5/12), and esophageal (5/12) cancers, as well as medulloblastoma (32% mRNA expression) 23. Psychiatric disease associations remain inconsistent; while a Swedish GWAS identified schizophrenia association with rs6878284, this was not replicated in Han Chinese populations 4. The rs7734060 variant showed marginal association with major depressive disorder in the Han Chinese population 4. Additionally, SLCO6A1 variants contribute to complex disease susceptibility: SNP-SNP interactions implicated it in Crohn's disease genetics 5, and a heterozygous deletion disrupting SLCO6A1 with missense variants suggested involvement in severe early-onset obesity 6. The gene's tissue-restricted expression and dual roles in normal physiology and cancer immunogenicity make it a potential target for therapeutic intervention.

Sources cited
1
SLCO6A1 is a gonad-specific organic anion transporter with 12 transmembrane domains, highly expressed in testis (Sertoli cells, spermatogonia, Leydig cells), and transports taurocholic acid, dehydroepiandrosterone sulfate, and thyroid hormones (T3, T4)
PMID: 12677006
2
SLCO6A1 is a cancer/testis antigen expressed in lung tumors (5/10), lung cancer cell lines (6/11), bladder (5/12), and esophageal (5/12) cancers, with tissue-restricted normal expression in testis
PMID: 15546177
3
SLCO6A1 mRNA expression detected in 32% of medulloblastoma samples
PMID: 18426187
4
rs6878284 in SLCO6A1 showed no association with schizophrenia in Han Chinese population, while rs7734060 showed marginal association with major depressive disorder
PMID: 26861727
5
SLCO6A1 identified as novel susceptibility gene for Crohn's disease through SNP-SNP interaction analysis, confirmed across multiple GWAS datasets
PMID: 23071489
6
Heterozygous deletion disrupting SLCO6A1 and SLCO4C1 with missense variant in SLCO4C1 identified in early-onset obesity patient, suggesting potential recessive model involvement in severe obesity
PMID: 28489853
Disease Associationsⓘ20
diabetes mellitusOpen Targets
0.49Moderate
type 2 diabetes mellitusOpen Targets
0.47Moderate
asthmaOpen Targets
0.31Weak
inborn disorder of amino acid metabolismOpen Targets
0.29Weak
subarachnoid hemorrhageOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.27Weak
schizophreniaOpen Targets
0.25Weak
placental retentionOpen Targets
0.24Weak
diabetic polyneuropathyOpen Targets
0.19Weak
Respiratory insufficiencyOpen Targets
0.19Weak
acute kidney injuryOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
type 1 diabetes mellitusOpen Targets
0.09Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.09Suggestive
benign prostatic hyperplasiaOpen Targets
0.08Suggestive
neuroblastomaOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
chromophobe renal cell carcinomaOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC75A1Shared pathway100%SLCO5A1Shared pathway100%SLCO4C1Shared pathway100%EIF4EProtein interaction100%SRCProtein interaction99%CDH1Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
25%
Ovary
0%
Lung
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
SLCO6A1SLC75A1SLCO5A1SLCO4C1EIF4ESRCCDH1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86UG4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.68–1.13]
RankingsWhere SLCO6A1 stands among ~20K protein-coding genes
  • #14,813of 20,598
    Most Researched18
  • #11,666of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedSLCO6A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Analysis of association between common variants in the SLCO6A1 gene with schizophrenia, bipolar disorder and major depressive disorder in the Han Chinese population.
PMID: 26861727
World J Biol Psychiatry · 2016
1.00
2
SNP-SNP interactions discovered by logic regression explain Crohn's disease genetics.
PMID: 23071489
PLoS One · 2012
0.90
3
Cancer-testis (CT) antigen expression in medulloblastoma.
PMID: 18426187
Cancer Immun · 2008
0.80
4
Identification of the gonad-specific anion transporter SLCO6A1 as a cancer/testis (CT) antigen expressed in human lung cancer.
PMID: 15546177
Cancer Immun · 2004
0.70
5
Identification and characterization of novel rat and human gonad-specific organic anion transporters.
PMID: 12677006
Mol Endocrinol · 2003
0.60