SLC5A1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC5A1 (HGNC:11036) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 5 member 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SGLT1
Alias symbols
D22S675, NAGT, SGLT-1
%HI
41.69(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.71(Read more about gnomAD LOEUF score)
Cytoband
22q12.3
Genomic Coordinates
GRCh37/hg19: chr22:32439248-32509016 NCBI Ensembl UCSC
GRCh38/hg38: chr22:32043261-32113029 NCBI Ensembl UCSC
MANE Select Transcript
NM_000343.4 ENST00000266088.9 (Read more about MANE Select)
Function
Electrogenic Na(+)-coupled sugar simporter that actively transports D-glucose or D-galactose at the plasma membrane, with a Na(+) to sugar coupling ratio of 2:1. Transporter activity is driven by a transmembrane Na(+) electrochemical gradient set by the Na(+)/K(+) pump (PubMed:20980548, PubMed:35077764, PubMed:8563765, PubMed:34880492). Has a primary role in the transport of dietary monosaccharides from enterocytes to blood. Responsible for the absorption of D-glucose or D-galactose across the a... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-16771
ClinGen Curation ID:
CCID:007886
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • glucose-galactose malabsorption Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)