SLC10A3

Solute Carrier Family 10 Member 3

Gene Information Card

Symbol SLC10A3
Full Name Solute Carrier Family 10 Member 3
Gene Type protein-coding
Chromosomal Location Xq28
NCBI Gene ID 8273 ncbi.nlm.nih.gov/gene/8273
Ensembl ID ENSG00000101981
UniProt ID P09131
OMIM ID 300241
HGNC ID 10979
Aliases P3, PSEC0104, SOF1

Description

SLC10A3 encodes a member of the solute carrier family 10, which is involved in the transport of bile acids and other organic anions. The protein is localized to the plasma membrane and may play a role in hepatic bile acid uptake. The gene is located on the X chromosome and is expressed in multiple tissues.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cholestasis Impaired bile acid transport due to SLC10A3 dysfunction Limited evidence; inferred from family member SLC10A1

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Kidney 8.3 Medium
Small Intestine 6.1 Low
Colon 4.7 Low
Testis 3.2 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 10.1 Hepatocyte-derived
Caco-2 5.8 Intestinal epithelial
HEK293 2.4 Embryonic kidney
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G missense <0.01% Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function variants reported in ClinVar.

Gain of Function (GOF)

No confirmed gain-of-function variants reported.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Gene Ontology (GO)

• integral component of plasma membrane (GO:0005887) • bile acid transmembrane transporter activity (GO:0015125)
• bile acid transport (GO:0015721)

Pathways

• Bile acid and bile salt metabolism (Reactome: R-HSA-194068)

Protein Summary

SLC10A3 is a 362-amino acid transmembrane protein with 7 predicted transmembrane domains. It belongs to the sodium/bile acid cotransporter family. The protein is expressed in liver, kidney, and intestine, and may function in bile acid homeostasis.

Related Products

Product name Cat.No. Species Gene ID
SLC10A3 Knockout HEK293 Cell Line EDJ-KQ6189 Human 8273 Details Get a Quote
SLC10A3 Knockout A-549 Cell Line EDJ-KQ30022 Human 8273 Details Get a Quote
SLC10A3 Knockout HCT 116 Cell Line EDJ-KQ30023 Human 8273 Details Get a Quote
SLC10A3 Knockout HeLa Cell Line EDJ-KQ30024 Human 8273 Details Get a Quote
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