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Aliases for SLC1A4 Gene

Aliases for SLC1A4 Gene

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

External Ids for SLC1A4 Gene

Previous GeneCards Identifiers for SLC1A4 Gene

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

Summaries for SLC1A4 Gene

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. GO annotations related to this gene include chloride channel activity and L-serine transmembrane transporter activity. An important paralog of this gene is SLC1A3.

UniProtKB/Swiss-Prot for SLC1A4 Gene

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

Gene Wiki entry for SLC1A4 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC1A4 Gene

Genomics for SLC1A4 Gene

Regulatory Elements for SLC1A4 Gene

Promoters for SLC1A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC1A4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC1A4 Gene

Chromosome:
2
Start:
64,988,445 bp from pter
End:
65,023,865 bp from pter
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

Proteomics data for SLC1A4 Gene at MOPED

Post-translational modifications for SLC1A4 Gene

  • Glycosylation at Asn 201 and Asn 206
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC1A4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SLC1A4 (SLC1A4)

No data available for DME Specific Peptides for SLC1A4 Gene

Domains & Families for SLC1A4 Gene

Gene Families for SLC1A4 Gene

Protein Domains for SLC1A4 Gene

Suggested Antigen Peptide Sequences for SLC1A4 Gene

Graphical View of Domain Structure for InterPro Entry

P43007

UniProtKB/Swiss-Prot:

SATT_HUMAN :
  • Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A4 subfamily.
Family:
  • Belongs to the sodium:dicarboxylate (SDF) symporter (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

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

Gene Ontology (GO) - Molecular Function for SLC1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015184 NOT L-cystine transmembrane transporter activity IDA 8340364
GO:0015186 L-glutamine transmembrane transporter activity TAS 21757002
GO:0015193 L-proline transmembrane transporter activity IDA 14502423
genes like me logo Genes that share ontologies with SLC1A4: view
genes like me logo Genes that share phenotypes with SLC1A4: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Jensen Localization Image for SLC1A4 Gene COMPARTMENTS Subcellular localization image for SLC1A4 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SLC1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA --
GO:0016020 membrane IEA,IDA 19946888
GO:0030425 dendrite IEA --
GO:0042470 melanosome IEA --
GO:0043025 neuronal cell body IEA --
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

Interacting Proteins for SLC1A4 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000234256%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000419945%0d%0a9606.ENSP00000367207%0d%0a
Selected Interacting proteins: P43007-SATT_HUMAN ENSP00000234256 for SLC1A4 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for SLC1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006835 dicarboxylic acid transport IEA --
GO:0006865 amino acid transport TAS --
GO:0006868 glutamine transport TAS 21757002
GO:0015808 L-alanine transport IDA 8101838
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
hydroxyproline Approved, Experimental Pharma 0
L-Cystine Approved Nutra 0
L-Serine Approved Nutra Full agonist, Agonist 0
L-Threonine Approved Nutra 0

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

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

Transcripts for SLC1A4 Gene

Unigene Clusters for SLC1A4 Gene

Solute carrier family 1 (glutamate/neutral amino acid transporter), member 4:
Representative Sequences:

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

No ASD Table

Relevant External Links for SLC1A4 Gene

GeneLoc Exon Structure for
SLC1A4
ECgene alternative splicing isoforms for
SLC1A4

Expression for SLC1A4 Gene

mRNA expression in normal human tissues for SLC1A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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, PaxDb, MOPED, and MaxQB for SLC1A4 Gene



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.
genes like me logo Genes that share expression patterns with SLC1A4: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia SLC1A4 35
  • 88.24 (n)
  • 92.45 (a)
SLC1A4 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC1A4 35
  • 90.3 (n)
  • 93.19 (a)
SLC1A4 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc1a4 35
  • 86.15 (n)
  • 89.85 (a)
Slc1a4 16
Slc1a4 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC1A4 35
  • 99.5 (n)
  • 100 (a)
SLC1A4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc1a4 35
  • 84.25 (n)
  • 88.05 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC1A4 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 92 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
chicken
(Gallus gallus)
Aves SLC1A4 35
  • 76.25 (n)
  • 80.84 (a)
SLC1A4 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC1A4 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc1a4 35
  • 70.78 (n)
  • 75.9 (a)
zebrafish
(Danio rerio)
Actinopterygii slc1a4 35
  • 72.06 (n)
  • 79.21 (a)
slc1a4 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Eaat1 37
  • 37 (a)
Eaat1 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T22E5.2 37
  • 39 (a)
W03G1.1 37
  • 32 (a)
glt-4 36
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for SLC1A4:
  • 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)

Paralogs for SLC1A4 Gene

Paralogs for SLC1A4 Gene

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

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

Variants for SLC1A4 Gene

Sequence variations from dbSNP and Humsavar for SLC1A4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1064512 - 64,989,752(+) GCGCG(C/G)GCTTC intron-variant, reference, missense
rs759458 - 65,018,231(-) CTCTA(C/T)GTTGT reference, missense
VAR_075085 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM)
VAR_075086 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM)
rs7850 -- 65,022,788(+) CCAGC(A/C)ACTGT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv834246 CNV Loss 17160897
esv275563 CNV Loss 21479260

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)

Relevant External Links for SLC1A4 Gene

HapMap Linkage Disequilibrium report
SLC1A4
Human Gene Mutation Database (HGMD)
SLC1A4

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

Disorders for SLC1A4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SLC1A4 Gene - From: Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic tetraplegia, thin corpus callosum, and progressive microcephaly
  • spatccm
hartnup disorder
  • hartnup disease
episodic ataxia
  • isaacs syndrome
villous adenoma
  • adenoma villous
cystinuria
  • csnu
- 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.

Relevant External Links for SLC1A4

Genetic Association Database (GAD)
SLC1A4
Human Genome Epidemiology (HuGE) Navigator
SLC1A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC1A4
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 67
  2. Taxol induced apoptosis regulates amino acid transport in breast cancer cells. (PMID: 17195090) Wu Y. … Vadgama J.V. (Apoptosis 2007) 23 25 26
  3. Pre-steady-state currents in neutral amino acid transporters induced by photolysis of a new caged alanine derivative. (PMID: 17311416) Zhang Z. … Grewer C. (Biochemistry 2007) 23 25 26
  4. ASCT-1 is a neutral amino acid exchanger with chloride channel activity. (PMID: 8910405) Zerangue N. … Kavanaugh M.P. (J. Biol. Chem. 1996) 2 3 23
  5. 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

Products for SLC1A4 Gene

Sources for SLC1A4 Gene

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