SLC1A4

Chr 2p14

solute carrier family 1 member 4

Aliases:: SATT, ASCT1, ASCT-1
MANE:: ENST00000234256.4

OMIM: 600229 ↗NCBI: 6509 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC1A4 · P43007

v62025-08-01

Predicted Aligned Error matrix for SLC1A4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.6/ 100

Confident

532 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)29%
Low(50–70)8%
Very low(< 50)13%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
0.80
hereditary disease
0.47
macular telangiectasia type 2
0.39
Intellectual disability
0.38
ovarian dysfunction
0.27
coronary artery calcification
0.25
liver disorder
0.24
lacrimal apparatus disorder
0.24
eye disorder
0.21
Alzheimer disease
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Neutral amino acid transporter A

Sodium-coupled antiporter of neutral amino acids. In a tri-substrate transport cycle, exchanges neutral amino acids between the extracellular and intracellular compartments, coupled to the inward cotransport of at least one sodium ion (PubMed:24808181, PubMed:27272177, PubMed:34630942, PubMed:8910405). Exchanges neutral amino acids such as L- and D-serine, L-threonine, L-asparagine and L-alanine in a bidirectional way (PubMed:14502423, PubMed:26041762, PubMed:27272177, PubMed:34630942, PubMed:8101838, PubMed:8340364, PubMed:8910405). Involved in homeostasis of D-serine, a coagonist of synaptic NMDA receptors. In astrocytes at excitatory synapses, mediates electrogenic D-serine influx coupled to L-serine efflux and L-serine shuttling to neurons for de novo D-serine synthesis (By similarity). Displays sodium- and amino acid-dependent but uncoupled channel-like anion conductance with a preference SCN(-) > NO3(-) > I(-) > Cl(-) (PubMed:8910405)