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 RefSeq, Jan 2017] See more...

Aliases for SLC1A4 Gene

Aliases for SLC1A4 Gene

  • Solute Carrier Family 1 Member 4 2 3 4 5
  • Solute Carrier Family 1 (Glutamate/Neutral Amino Acid Transporter), Member 4 2 3
  • Alanine/Serine/Cysteine/Threonine Transporter 1 3 4
  • Neutral Amino Acid Transporter A 3 4
  • ASCT1 3 4
  • SATT 3 4
  • Alanine/Serine/Cysteine/Threonine Transporter 2
  • Glutamate/Neutral Amino Acid Transporter 3
  • SPATCCM 3
  • ASCT-1 4

External Ids for SLC1A4 Gene

Previous GeneCards Identifiers for SLC1A4 Gene

  • GC02P065350
  • GC02P065173
  • GC02P065191
  • GC02P065128
  • GC02P065070
  • GC02P064949
  • GC02P065216

Summaries for SLC1A4 Gene

Entrez Gene Summary for SLC1A4 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 RefSeq, Jan 2017]

GeneCards Summary for SLC1A4 Gene

SLC1A4 (Solute Carrier Family 1 Member 4) is a Protein Coding gene. Diseases associated with SLC1A4 include Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly and Hartnup Disorder. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuroscience. Gene Ontology (GO) annotations related to this gene include chloride channel activity and L-serine transmembrane transporter activity. An important paralog of this gene is SLC1A5.

UniProtKB/Swiss-Prot Summary for SLC1A4 Gene

  • Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence.

Gene Wiki entry for SLC1A4 Gene

Additional gene information for SLC1A4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC1A4 Gene

Genomics for SLC1A4 Gene

GeneHancer (GH) Regulatory Elements for SLC1A4 Gene

Promoters and enhancers for SLC1A4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC1A4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC1A4

Top Transcription factor binding sites by QIAGEN in the SLC1A4 gene promoter:
  • AP-2gamma
  • C/EBPbeta
  • GATA-1
  • STAT5A
  • YY1

Genomic Locations for SLC1A4 Gene

Genomic Locations for SLC1A4 Gene
chr2:64,988,445-65,023,865
(GRCh38/hg38)
Size:
35,421 bases
Orientation:
Plus strand
chr2:65,215,579-65,250,999
(GRCh37/hg19)
Size:
35,421 bases
Orientation:
Plus strand

Genomic View for SLC1A4 Gene

Genes around SLC1A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC1A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC1A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC1A4 Gene

Proteins for SLC1A4 Gene

  • Protein details for SLC1A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43007-SATT_HUMAN
    Recommended name:
    Neutral amino acid transporter A
    Protein Accession:
    P43007
    Secondary Accessions:
    • B7Z3C0
    • D6W5F0

    Protein attributes for SLC1A4 Gene

    Size:
    532 amino acids
    Molecular mass:
    55723 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC1A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC1A4 Gene

Post-translational modifications for SLC1A4 Gene

  • Glycosylation at Asn201 and Asn206
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC1A4 Gene

No data available for DME Specific Peptides for SLC1A4 Gene

Domains & Families for SLC1A4 Gene

Gene Families for SLC1A4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC1A4 Gene

Blocks:
  • Sodium:dicarboxylate symporter
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC1A4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52500, highly similar to Neutral amino acid transporter A (B7Z3C0_HUMAN)
  • Solute carrier family 1 member 4 (SATT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P43007

UniProtKB/Swiss-Prot:

SATT_HUMAN :
  • Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A4 subfamily.
Family:
  • Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A4 subfamily.
genes like me logo Genes that share domains with SLC1A4: view

Function for SLC1A4 Gene

Molecular function for SLC1A4 Gene

UniProtKB/Swiss-Prot Function:
Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence.
GENATLAS Biochemistry:
solute carrier family 1,member A4,glutamate/neutral amino acid transporter

Phenotypes From GWAS Catalog for SLC1A4 Gene

Gene Ontology (GO) - Molecular Function for SLC1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IDA 8910405
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015175 neutral amino acid transmembrane transporter activity IEA --
GO:0015180 L-alanine transmembrane transporter activity IDA 8101838
GO:0015184 NOT L-cystine transmembrane transporter activity IDA 8340364
genes like me logo Genes that share ontologies with SLC1A4: view
genes like me logo Genes that share phenotypes with SLC1A4: view

Human Phenotype Ontology for SLC1A4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC1A4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC1A4 Gene

Localization for SLC1A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC1A4 Gene

Membrane; Multi-pass membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC1A4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
extracellular 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA --
GO:0005815 microtubule organizing center IDA --
GO:0005882 intermediate filament IEA,ISS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IC 8910405
genes like me logo Genes that share ontologies with SLC1A4: view

Pathways & Interactions for SLC1A4 Gene

genes like me logo Genes that share pathways with SLC1A4: view

Gene Ontology (GO) - Biological Process for SLC1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006865 amino acid transport TAS --
GO:0006868 glutamine transport TAS 21757002
GO:0015808 L-alanine transport IDA 8101838
GO:0015811 NOT L-cystine transport IDA 8340364
GO:0015824 proline transport IDA 14502423
genes like me logo Genes that share ontologies with SLC1A4: view

No data available for SIGNOR curated interactions for SLC1A4 Gene

Drugs & Compounds for SLC1A4 Gene

(10) Drugs for SLC1A4 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Threonine Approved Nutra 34
cystine Approved Nutra 0
hydroxyproline Experimental Pharma 0
Serine Investigational Nutra Full agonist, Agonist Weak endogenous glycine receptor agonist 1328
L-Alanine Nutra Full agonist, Agonist, Target Glycine receptor agonist 187

(3) Additional Compounds for SLC1A4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC1A4: view

Transcripts for SLC1A4 Gene

mRNA/cDNA for SLC1A4 Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC1A4

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC1A4 Gene

No ASD Table

Relevant External Links for SLC1A4 Gene

GeneLoc Exon Structure for
SLC1A4

Expression for SLC1A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC1A4 Gene

Protein differential expression in normal tissues from HIPED for SLC1A4 Gene

This gene is overexpressed in Brain (28.0), Frontal cortex (10.3), and Fetal Brain (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC1A4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC1A4

SOURCE GeneReport for Unigene cluster for SLC1A4 Gene:

Hs.654352

mRNA Expression by UniProt/SwissProt for SLC1A4 Gene:

P43007-SATT_HUMAN
Tissue specificity: Expressed mostly in brain, muscle, and pancreas but detected in all tissues examined.

Evidence on tissue expression from TISSUES for SLC1A4 Gene

  • Nervous system(4.9)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with SLC1A4: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC1A4 Gene

Orthologs for SLC1A4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC1A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC1A4 31 30
  • 99.5 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 92 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SLC1A4 31 30
  • 90.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC1A4 31 30
  • 88.24 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc1a4 17 31 30
  • 86.15 (n)
rat
(Rattus norvegicus)
Mammalia Slc1a4 30
  • 84.25 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC1A4 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC1A4 31 30
  • 76.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC1A4 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc1a4 30
  • 70.78 (n)
zebrafish
(Danio rerio)
Actinopterygii slc1a4 31 30
  • 72.06 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Eaat1 31 32
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T22E5.2 32
  • 39 (a)
glt-4 31
  • 36 (a)
OneToMany
W03G1.1 32
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for SLC1A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC1A4 Gene

ENSEMBL:
Gene Tree for SLC1A4 (if available)
TreeFam:
Gene Tree for SLC1A4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC1A4: view image

Paralogs for SLC1A4 Gene

Paralogs for SLC1A4 Gene

(6) SIMAP similar genes for SLC1A4 Gene using alignment to 1 proteins:

  • SATT_HUMAN
genes like me logo Genes that share paralogs with SLC1A4: view

Variants for SLC1A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC1A4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
587616 Uncertain Significance: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 65,018,631(+) G/A MISSENSE_VARIANT
rs1057517664 Pathogenic: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 65,016,582(+) CTT/C FRAMESHIFT_VARIANT,INTRON_VARIANT
rs144265531 Uncertain Significance: not provided 65,020,927(+) G/A SYNONYMOUS_VARIANT
rs149636167 Uncertain Significance: not provided 64,989,683(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
rs1553375174 Pathogenic: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 65,017,689(+) AATCATAGTTTACCAT SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for SLC1A4 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC1A4 Gene

Variant ID Type Subtype PubMed ID
dgv1127e212 CNV gain 25503493
dgv1128e212 CNV gain 25503493
esv275563 CNV loss 21479260
nsv1010909 CNV gain 25217958
nsv834246 CNV loss 17160897

Variation tolerance for SLC1A4 Gene

Residual Variation Intolerance Score: 35.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC1A4 Gene

Human Gene Mutation Database (HGMD)
SLC1A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC1A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC1A4 Gene

Disorders for SLC1A4 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SLC1A4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SATT_HUMAN
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) [MIM:616657]: A neurodevelopmental disorder characterized by thin corpus callosum, severe progressive microcephaly, severe intellectual disability, seizures, spasticity, and global developmental delay. Most patients are unable to achieve independent walking or speech. {ECO:0000269 PubMed:25930971, ECO:0000269 PubMed:26041762, ECO:0000269 PubMed:26138499}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC1A4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC1A4: view

No data available for Genatlas for SLC1A4 Gene

Publications for SLC1A4 Gene

  1. Human neutral amino acid transporter ASCT1: structure of the gene (SLC1A4) and localization to chromosome 2p13-p15. (PMID: 7896285) Hofmann K … Stoffel W (Genomics 1994) 2 3 4 23 54
  2. Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia. (PMID: 18638388) Deng X … Fukumaki Y (BMC psychiatry 2008) 3 23 41 54
  3. No association between genetic variants at the ASCT1 gene and schizophrenia or bipolar disorder in a German sample. (PMID: 17106422) Skowronek MH … Rietschel M (Psychiatric genetics 2006) 3 23 41 54
  4. ASCT-1 is a neutral amino acid exchanger with chloride channel activity. (PMID: 8910405) Zerangue N … Kavanaugh MP (The Journal of biological chemistry 1996) 2 3 23 54
  5. Cloning and expression of a human neutral amino acid transporter with structural similarity to the glutamate transporter gene family. (PMID: 8101838) Arriza JL … Amara SG (The Journal of biological chemistry 1993) 3 4 23 54

Products for SLC1A4 Gene

Sources for SLC1A4 Gene