Description: Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 1 (SLC10A1), mRNA. RefSeq Summary (NM_003049): The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011]. Transcript (Including UTRs) Position: hg19 chr14:70,242,552-70,264,006 Size: 21,455 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr14:70,242,999-70,263,872 Size: 20,874 Coding Exon Count: 5
ID:NTCP_HUMAN DESCRIPTION: RecName: Full=Sodium/bile acid cotransporter; AltName: Full=Cell growth-inhibiting gene 29 protein; AltName: Full=Na(+)/bile acid cotransporter; AltName: Full=Na(+)/taurocholate transport protein; AltName: Full=Sodium/taurocholate cotransporting polypeptide; AltName: Full=Solute carrier family 10 member 1; FUNCTION: The hepatic sodium/bile acid uptake system exhibits broad substrate specificity and transports various non-bile acid organic compounds as well. It is strictly dependent on the extracellular presence of sodium. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. SIMILARITY: Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SLC10A1 CDC HuGE Published Literature: SLC10A1 Positive Disease Associations: Aorta
, Echocardiography Related Studies:
Aorta Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics.
[PubMed 17903303]
The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
Echocardiography Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903301]
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01758 - Sodium Bile acid symporter family PF13593 - SBF-like CPA transporter family (DUF4137)
ModBase Predicted Comparative 3D Structure on Q14973
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.