SLC5A3 solute carrier family 5 member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC5A3provided by HGNC
Official Full Name: solute carrier family 5 member 3provided by HGNC
Primary source: HGNC:HGNC:11038
See related: Ensembl:ENSG00000198743 MIM:600444; AllianceGenome:HGNC:11038
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BCW2; SMIT; SMIT1; SMIT2
Summary: Enables potassium channel regulator activity and transmembrane transporter binding activity. Predicted to be involved in inositol metabolic process; monosaccharide transmembrane transport; and myo-inositol import across plasma membrane. Predicted to act upstream of or within several processes, including peripheral nervous system development; positive regulation of reactive oxygen species biosynthetic process; and regulation of respiratory gaseous exchange. Located in plasma membrane. Part of perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in kidney (RPKM 12.8), thyroid (RPKM 10.4) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.11

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (34073578..34106260)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (32455648..32488333)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (35445878..35478559)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SLC5A3 is important for cervical cancer cell growth.
Title: SLC5A3 is important for cervical cancer cell growth.
The sodium/myo-inositol co-transporter SLC5A3 promotes non-small cell lung cancer cell growth.
Title: The sodium/myo-inositol co-transporter SLC5A3 promotes non-small cell lung cancer cell growth.
Myo-Inositol Transporter SLC5A3 Associates with Degenerative Changes and Inflammation in Sporadic Inclusion Body Myositis.
Title: Myo-Inositol Transporter SLC5A3 Associates with Degenerative Changes and Inflammation in Sporadic Inclusion Body Myositis.
Results show that SMIT1 is expressed in the heart. SMIT1 is able to detect increased extracellular glucose levels and triggers signaling leading to NOX2 activation and ROS production.
Title: Sodium-myoinositol cotransporter-1, SMIT1, mediates the production of reactive oxygen species induced by hyperglycemia in the heart.
SMIT1 Modifies KCNQ Channel Function and Pharmacology by Physical Interaction with the Pore
Title: SMIT1 Modifies KCNQ Channel Function and Pharmacology by Physical Interaction with the Pore.
overexpression of the Na(+)/myo-inositol cotransporter (SMIT1) and myo-inositol supplementation enlarged intracellular PI(4,5)P2 pools, modulated several PI(4,5)P2-dependent ion channels including KCNQ2/3 channels, and attenuated the action potential firing of superior cervical ganglion neurons
Title: Osmoregulatory inositol transporter SMIT1 modulates electrical activity by adjusting PI(4,5)P2 levels.
Hypotonic stress causes a significant upregulation of SLC5A3 gene expression as detected by semiquantitative RT-PCR and Western blot analysis.
Title: Hypotonic activation of the myo-inositol transporter SLC5A3 in HEK293 cells probed by cell volumetry, confocal and super-resolution microscopy.
A kinetic model has been generated for the transport mechanism of SMIT2 allowing insight into the transport of members of the LeuT structural family at the millisecond timescale.
Title: The transport mechanism of the human sodium/myo-inositol transporter 2 (SMIT2/SGLT6), a member of the LeuT structural family.
JAK2 contributes to the regulation of the myoinositol transporter SMIT.
Title: Down-regulation of the myoinositol transporter SMIT by JAK2.
Observational study of gene-disease association. (HuGE Navigator)
Title: A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20293 (e-PCR)
- UniSTS:24899

A005K42 (e-PCR)
- UniSTS:24900

D21S363E (e-PCR)
- UniSTS:472958

SHGC-87543 (e-PCR)
- UniSTS:22922

RH35989 (e-PCR)
- UniSTS:46223

RH104128 (e-PCR)
- UniSTS:98453

RH78031 (e-PCR)
- UniSTS:26035

SLC5A3_3862 (e-PCR)
- UniSTS:463315

Cda0ae11 (e-PCR)
- UniSTS:9712

SHGC-87556 (e-PCR)
- UniSTS:34296

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fucose transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables glucose:sodium symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucose:sodium symporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables myo-inositol transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables myo-inositol:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables myo-inositol:sodium symporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables myo-inositol:sodium symporter activity	TAS Traceable Author Statement more info
enables pentose transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables polyol transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in fucose transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in glucose transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in inositol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in myo-inositol import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in myo-inositol transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in myo-inositol transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in myo-inositol transport	TAS Traceable Author Statement more info
involved_in pentose transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in peripheral nervous system development	IEA Inferred from Electronic Annotation more info
involved_in polyol transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of catalytic activity	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of protein localization to membrane	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of reactive oxygen species biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of respiratory gaseous exchange	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated potassium channel complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sodium/myo-inositol cotransporter

Names: Na(+)/myo-inositol cotransporter; sodium/myo-inositol cotransporter 1; sodium/myo-inositol transporter 1; solute carrier family 5 (inositol transporters), member 3; solute carrier family 5 (sodium/myo-inositol cotransporter), member 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.