Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6509
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 1 member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC1A4
Synonyms (NCBI Gene) Gene synonyms aliases
ASCT1, SATT, SPATCCM
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p14
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001595 hsa-let-7b-5p pSILAC 18668040
MIRT017309 hsa-miR-335-5p Microarray 18185580
MIRT022372 hsa-miR-124-3p Microarray 18668037
MIRT024856 hsa-miR-215-5p Microarray 19074876
MIRT026286 hsa-miR-192-5p Microarray 19074876
Transcription factors
Transcription factor Regulation Reference
CREB3L1 Repression 17617614
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005254 Function Chloride channel activity IDA 8910405
GO:0005813 Component Centrosome IDA
GO:0005882 Component Intermediate filament IEA
GO:0005882 Component Intermediate filament ISS
GO:0005886 Component Plasma membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600229 10942 ENSG00000115902
Protein
UniProt ID P43007
Protein name Neutral amino acid transporter A (Alanine/serine/cysteine/threonine transporter 1) (ASCT-1) (Solute carrier family 1 member 4)
Protein function Sodium-dependent neutral amino-acid transporter that mediates transport of alanine, serine, cysteine, proline, hydroxyproline and threonine. {ECO:0000269|PubMed:14502423, ECO:0000269|PubMed:26041762, ECO:0000269|PubMed:8101838, ECO:0000269|PubMe
PDB 7P4I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00375 SDF 44 477 Sodium:dicarboxylate symporter family Family
Tissue specificity TISSUE SPECIFICITY: Expressed mostly in brain, muscle, and pancreas but detected in all tissues examined. {ECO:0000269|PubMed:8340364}.
Sequence
Sequence length 532
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amino acid transport across the plasma membrane
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spastic Tetraplegia-Thin Corpus Callosum Microcephaly Syndrome spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome rs201278558, rs1057517664, rs761533681, rs1553375174, rs1558529034, rs1572971860 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly microcephaly N/A N/A ClinVar
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Renal Tubular Associate 38445406
Breast Neoplasms Associate 37643511
Coronary Artery Disease Associate 35152560
Developmental Disabilities Associate 37194416
Epilepsy Associate 37194416
Microcephaly Associate 37194416
Mucocutaneous Lymph Node Syndrome Associate 37894766
Muscle Spasticity Associate 37194416
Nakamura Osame syndrome Associate 37194416
Non alcoholic Fatty Liver Disease Associate 38115130