SLC45A1

SLC45A1
Identifiers
Aliases	SLC45A1, DNB5, solute carrier family 45 member 1, IDDNPF, PAST-A
External IDs	OMIM: 605763 MGI: 2653235 HomoloGene: 44908 GeneCards: SLC45A1
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.23 Start 8,317,826 bp[1] End 8,344,167 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 E2 Start 150,713,029 bp[2] End 150,736,631 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in prefrontal cortex Brodmann area 9 middle temporal gyrus Brodmann area 23 cingulate gyrus hypothalamus anterior pituitary putamen caudate nucleus endothelial cell Top expressed in superior frontal gyrus cerebellar cortex neural tube hippocampus proper brain stem mesencephalon hypothalamus olfactory bulb fossa condyle More reference expression data BioGPS n/a
Gene ontology Molecular function symporter activity sucrose:proton symporter activity Cellular component integral component of membrane membrane Biological process transmembrane transport carbohydrate transport glucose transmembrane transport sucrose transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 50651 242773 Ensembl ENSG00000162426 ENSMUSG00000039838 UniProt Q9Y2W3 Q8BIV7 RefSeq (mRNA) NM_001080397 NM_173774 NM_001355737 RefSeq (protein) NP_001073866 NP_001366543 NP_001366544 NP_001366545 NP_001366546 NP_001366547 NP_776135 NP_001342666 Location (UCSC) Chr 1: 8.32 – 8.34 Mb Chr 4: 150.71 – 150.74 Mb PubMed search [3] [4]
Wikidata
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SLC45A1 is a member of the SLC45 family of solute carriers. Analysis of the protein function in a recombinant yeast expression assay show that it can: (i) transport a disaccharide, such as glucose and sucrose (ii) perform secondary active transport in a proton-dependent manner.^[5]

It is associated with sugar transport in the brain, and rare mutations in the gene are associated with intellectual disability and epilepsy.^[6] analogous to the effect of mutation of the cerebral glucose transporter GLUT1(SLC2A1).

References