SLC17A5
solute carrier family 17 member 5 | AST, ISSD, NSD, SD, SIALIN, SLD, SIASD

This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]

Developmental clusters: GC5
Biological processes 38 terms
D-glucuronate transmembrane transport (GO:0042874)D-glucuronate transmembrane transporter activity (GO:0042880)D-glucuronate transmembrane transporter activity (GO:0042880)apical plasma membrane (GO:0016324)basolateral plasma membrane (GO:0016323)carbohydrate derivative transport (GO:1901264)carbohydrate transmembrane transport (GO:0034219)carbohydrate:proton symporter activity (GO:0005351)cytoplasmic vesicle (GO:0031410)glucuronate transmembrane transport (GO:0015738)glucuronate transmembrane transporter activity (GO:0015135)glutamatergic synapse (GO:0098978)lysosomal membrane (GO:0005765)lysosomal membrane (GO:0005765)lysosomal membrane (GO:0005765)lysosomal membrane (GO:0005765)lysosomal membrane (GO:0005765)lysosomal membrane (GO:0005765)lysosome (GO:0005764)membrane (GO:0016020)monoatomic anion transport (GO:0006820)neurotransmitter loading into synaptic vesicle (GO:0098700)organic anion transport (GO:0015711)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)proton transmembrane transport (GO:1902600)sialic acid transmembrane transporter activity (GO:0015136)sialic acid transmembrane transporter activity (GO:0015136)sialic acid transmembrane transporter activity (GO:0015136)sialic acid transport (GO:0015739)sialic acid transport (GO:0015739)sialic acid transport (GO:0015739)sialic acid:proton symporter activity (GO:0015538)synaptic vesicle membrane (GO:0030672)synaptic vesicle membrane (GO:0030672)transmembrane transport (GO:0055085)transmembrane transporter activity (GO:0022857)
Expression (TPM)
SLC17A5 — as a Regulated Gene

TFs regulating SLC17A5 0 TFs

Transcription factors with Perturb-seq knockdown data for SLC17A5. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = SLC17A5 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to SLC17A5

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of SLC17A5, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr6:73,388,539–73,389,752 264.9 kb Distal (>10kb) Multiome 579
chr6:73,450,878–73,452,652 201.9 kb Distal (>10kb) Multiome 510
chr6:73,461,207–73,462,355 192.3 kb Distal (>10kb) Multiome 806
chr6:73,511,142–73,516,574 139.7 kb Distal (>10kb) Multiome 913
chr6:73,520,105–73,522,117 132.7 kb Distal (>10kb) Multiome HiCAR 1220
chr6:73,579,484–73,580,917 73.5 kb Distal (>10kb) Multiome 828
chr6:73,645,431–73,645,820 8.2 kb Proximal (<10kb) 52
chr6:73,653,023–73,654,818 16 bp At TSS Multiome 944
chr6:73,695,662–73,696,526 42.1 kb Distal (>10kb) Multiome 534
chr6:75,243,188–75,244,541 1589.8 kb Distal (>10kb) Multiome HiCAR 858
chr6:75,283,886–75,285,703 1630.9 kb Distal (>10kb) Multiome HiCAR 948
chr6:75,348,793–75,350,207 1695.6 kb Distal (>10kb) Multiome HiCAR 378
chr6:75,601,534–75,603,064 1948.0 kb Distal (>10kb) Multiome HiCAR 930

Genome Browser

Genomic view of the SLC17A5 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr6:73,378,539 – 75,613,064
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq