SLC10A1 (solute carrier family 10 member 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6554
Gene name Solute carrier family 10 member 1
Gene symbol SLC10A1
Synonyms (NCBI Gene)
FHCA2NTCP
Chromosome 14
Chromosome location 14q24.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT1351620 hsa-miR-4670-3p CLIP-seq
MIRT2104216 hsa-miR-4420 CLIP-seq
MIRT2104217 hsa-miR-4704-3p CLIP-seq
MIRT2104218 hsa-miR-4724-5p CLIP-seq
MIRT2104219 hsa-miR-582-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CEBPA Unknown 11031103
CEBPB Unknown 11031103
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IDA 22029531
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 8132774
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
182396 10905 ENSG00000100652
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14973
Protein name Hepatic sodium/bile acid cotransporter (Cell growth-inhibiting gene 29 protein) (Na(+)/bile acid cotransporter) (Na(+)/taurocholate transport protein) (Sodium/taurocholate cotransporting polypeptide) (NTCP) (Solute carrier family 10 member 1) (SLC10A1)
Protein 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:1
PDB 7FCI , 7PQG , 7PQQ , 7VAD , 7VAG , 7WSI , 7ZYI , 8HRX , 8HRY , 8RQF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01758 SBF 32 → 213 Sodium Bile acid symporter family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in liver (PubMed:11031103, PubMed:12409283). Expressed in placental trophoblasts (PubMed:12409283). {ECO:0000269|PubMed:11031103, ECO:0000269|PubMed:12409283, ECO:0000269|PubMed:9458785}.
Sequence 
MEAHNASAPFNFTLPPNFGKRPTDLALSVILVFMLFFIMLSLGCTMEFSKIKAHLWKPKG
LAIALVAQYGIMPLTAFVLGKVFRLKNIEALAILVCGCSPGGNLSNVFSLAMKGDMNLSI
VMTTCSTFCALGMMPLLLYIYSRGIYDGDLKDKVPYKGIVISLVLVLIPCTIGIVLKSKR
PQYMRYVIKGGMIIILLCSVAVTVLSAINVGKSIMFAMTPLLIATSSLMPFIGFLLGYVL
SALFCLNGRCRRTVSMETGCQNVQLCSTILNVAFPPEVIGPLFFFPLLYMIFQLGEGLLL
IAIFWCYEKFKTPKDKTKMIYTAATTEETIPGALGNGTYKGEDCSPCTA
Sequence length 349
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Virion - Hepatitis viruses
Bile secretion
Hepatitis B 		  Recycling of bile acids and salts
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypercholanemia, familial, 2 Likely pathogenic rs2503021993 RCV002283733
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC10A1-related disorder Likely pathogenic rs2503021993, rs2503028730, rs748008197, rs757442230 RCV004749897
RCV003418988
RCV003418773
RCV003402903
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (10)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHOLESTASIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERCHOLANEMIA — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (50)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult-onset citrullinemia type 2 Citrullinemia BEFREE 31788003
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 28835676 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 24509240, 25646622, 26592202, 26968990, 29138286, 29905807, 30685591, 30881922, 31117968, 33445753, 33870849, 34328417, 34611272, 35022275, 35192536
View all (3 more)		 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37234237 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 28449708
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholecystolithiasis Cholecystolithiasis BEFREE 31574858
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholelithiasis Cholelithiasis BEFREE 31574858
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholestasis Cholestasis BEFREE 21526375, 30525015
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholestasis Cholelithiasis Pubtator 27538918 Inhibit
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholestasis of pregnancy Cholestasis of pregnancy BEFREE 31142693
★★★★★
★☆☆☆☆
Found in Text Mining only