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SLC10A1

Function

As a major transporter of conjugated bile salts from plasma into the hepatocyte, it plays a key role in the enterohepatic circulation of bile salts necessary for the solubilization and absorption of dietary fat and fat-soluble vitamins (PubMed:14660639, PubMed:24867799, PubMed:34060352, PubMed:8132774). It is strictly dependent on the extracellular presence of sodium (PubMed:14660639, PubMed:24867799, PubMed:34060352, PubMed:8132774). It exhibits broad substrate specificity and transports various bile acids, such as taurocholate, cholate, as well as non-bile acid organic compounds, such as estrone sulfate (PubMed:14660639, PubMed:34060352). Works collaboratively with the ileal transporter (NTCP2), the organic solute transporter (OST), and the bile salt export pump (BSEP), to ensure efficacious biological recycling of bile acids during enterohepatic circulation (PubMed:33222321).

(Microbial infection) Acts as a receptor for hepatitis B virus.

Involvement in disease

Hypercholanemia, familial, 2

FHCA2

An autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy, fat malabsorption and impaired absorption of fat-soluble vitamins, including D and K. Most patients are asymptomatic. Some neonates may have transient jaundice or transiently elevated liver enzymes.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.

Tissue Specificity

Expressed in liver (PubMed:11031103, PubMed:12409283). Expressed in placental trophoblasts (PubMed:12409283).

Cellular localization

Alternative names

NTCP, GIG29, SLC10A1, Hepatic sodium/bile acid cotransporter, Cell growth-inhibiting gene 29 protein, Na(+)/bile acid cotransporter, Na(+)/taurocholate transport protein, Sodium/taurocholate cotransporting polypeptide, Solute carrier family 10 member 1

swissprot:Q14973 entrezGene:6554 omim:182396