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

Gene ID: 6526, updated on 27-Nov-2024

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 myo-inositol:sodium symporter activity; potassium channel regulator activity; and transmembrane transporter binding activity. Predicted to be involved in several processes, including inositol metabolic process; monosaccharide transmembrane transport; and myo-inositol import across plasma membrane. Predicted to act upstream of or within several processes, including positive regulation of protein localization to membrane; positive regulation of reactive oxygen species biosynthetic process; and regulation of respiratory gaseous exchange. Located in perinuclear region of cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in kidney (RPKM 12.8), thyroid (RPKM 10.4) and 21 other tissues See more
Orthologs
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Genomic context

See SLC5A3 in Genome Data Viewer
Location:
21q22.11
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (34073578..34106260)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (32455648..32488333)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35445878..35478559)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:35348180-35349379 Neighboring gene uncharacterized LOC101928126 Neighboring gene uncharacterized LOC105372790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18388 Neighboring gene uncharacterized LOC105372789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18392 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:35409658-35410857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18393 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35439104-35439620 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:35440377-35440478 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:35445789-35446739 Neighboring gene mitochondrial ribosomal protein S6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:35501946-35502490 Neighboring gene RPS5 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35531196-35531696 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35551498-35552375 Neighboring gene long intergenic non-protein coding RNA 310

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables D-glucose:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables D-glucose:sodium symporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables fucose transmembrane transporter 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 D-glucose transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fucose 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 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 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
 

General protein information

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.

mRNA and Protein(s)

  1. NM_006933.7NP_008864.4  sodium/myo-inositol cotransporter

    See identical proteins and their annotated locations for NP_008864.4

    Status: VALIDATED

    Source sequence(s)
    AP000315, AP000467, KF457228, KF457229, KF457230
    Consensus CDS
    CCDS33549.1
    UniProtKB/Swiss-Prot
    O43489, P53794
    Related
    ENSP00000370543.3, ENST00000381151.5
    Conserved Domains (1) summary
    cd11491
    Location:9718
    SLC5sbd_SMIT; Na(+)/myo-inositol cotransporter SMIT and related proteins; solute-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    34073578..34106260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    32455648..32488333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)