SLC5A6 Gene Summary [Human]

Enables biotin transmembrane transporter activity and pantothenate transmembrane transporter activity. Involved in anion transmembrane transport and transport across blood-brain barrier. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Retained Intron
Official Symbol
SLC5A6
Official Name
solute carrier family 5 member 6 [Source:HGNC Symbol;Acc:HGNC:11041]
Ensembl ID
ENSG00000138074
Bio databases IDs NCBI: 8884 Ensembl: ENSG00000138074
Aliases solute carrier family 5 member 6
Synonyms COMNB, DKFZp434F152, E430023I20, hSMVT, NERIB, SMVT, SMVTD, solute carrier family 5 member 6, solute carrier family 5 (sodium-dependent vitamin transporter), member 6
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC5A6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • amide transporter
  • monocarboxylate porter
  • pantothenate transporter
  • Solute carrier families 5 and 6-like; solute binding domain
  • sodium dependent multivitamin transporter
  • protein binding
  • biotin transporter
  • iodide transporter
  • transporter
  • pantothenate:sodium symporter
  • organic acid:sodium symporter

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • renal cell carcinoma
  • biotin-responsive childhood-onset peripheral motor neuropathy
  • biotin-responsive infantile-onset neurodegeneration
  • renal cell cancer
regulated by
regulates
  • lipoic acid
  • biotin
  • iodide
  • D-pantothenic acid
  • D-lipoic acid

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cellular membrane
  • apical membrane
  • basolateral membrane
  • basal membrane
  • brush border

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SLC5A6 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • sodium ion transport
  • biotin metabolic process
  • biotin transport
  • pantothenate transmembrane transport

Cellular Component

Where in the cell the gene product is active
  • basal plasma membrane
  • brush border membrane
  • membrane
  • basolateral plasma membrane
  • plasma membrane
  • apical plasma membrane

Molecular Function

What the gene product does at the molecular level
  • biotin transporter activity
  • pantothenate:sodium symporter activity
  • protein binding
  • pantothenate transmembrane transporter activity
  • iodide transmembrane transporter activity
  • sodium-dependent multivitamin transmembrane transporter activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.