SLC10A6 solute carrier family 10 member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC10A6provided by HGNC
Official Full Name: solute carrier family 10 member 6provided by HGNC
Primary source: HGNC:HGNC:30603
See related: Ensembl:ENSG00000145283 MIM:613366; AllianceGenome:HGNC:30603
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SOAT
Summary: Predicted to enable bile acid:sodium symporter activity. Predicted to be involved in bile acid and bile salt transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in skin (RPKM 6.2), esophagus (RPKM 5.0) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q21.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (86823468..86849384, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (90152961..90178806, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (87744621..87770537, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SOAT genetic variants L44P, Q75R, P107L, G109S, S112F, N113K, S133F, G241D, G263E, G294R, and Y308N showed no transport activity for dehydroepiandrosterone sulfate at all. In the case of P107L, G241D, G263E, and Y308N, this was most likely due to significantly reduced expression in the plasma membrane.
Title: Rare genetic variants in the sodium-dependent organic anion transporter SOAT (SLC10A6): Effects on transport function and membrane expression.
SOAT substrates from the group of sulfated steroids are characterized by a planar and lipophilic steroid backbone in trans-trans-trans conformation of the rings and a negatively charged mono-sulfate group at positions 3' or 17' with flexibility for alpha- or beta- orientation. Furthermore, 5alpha-reduction, 16alpha-hydroxylation, and 17alpha-hydroxylation are acceptable for SOAT substrate recognition, whereas addition ...
Title: Transport of steroid 3-sulfates and steroid 17-sulfates by the sodium-dependent organic anion transporter SOAT (SLC10A6).
SOAT-L204F polymorphism was found in men with normal spermatogenesis and with hypospermatogenesisSOAT-L204F polymorphism showed impaired membrane expression.The SOAT-L204F polymorphism showed reduced transport activity for dehydroepiandrosterone sulfate.
Title: The polymorphism L204F affects transport and membrane expression of the sodium-dependent organic anion transporter SOAT (SLC10A6).

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-79180 (e-PCR)
- UniSTS:102725

NoName (e-PCR)
- UniSTS:483033

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables bile acid:sodium symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables bile acid:sodium symporter activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium-dependent organic anion transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in bile acid and bile salt transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in sodium-dependent organic anion transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sodium-dependent organic anion transporter

Names: solute carrier family 10 (sodium/bile acid cotransporter family), member 6; solute carrier family 10 (sodium/bile acid cotransporter), member 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.