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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
  • ASCT1 3 4
  • SATT 3 4
  • Alanine/Serine/Cysteine/Threonine Transporter 2
  • Glutamate/Neutral Amino Acid Transporter 3
  • Neutral Amino Acid Transporter A 3
  • SPATCCM 3
  • ASCT-1 4

External Ids for SLC1A4 Gene

Previous GeneCards Identifiers for SLC1A4 Gene

  • GC02P065350
  • GC02P065173
  • GC02P065191
  • GC02P065128
  • GC02P065070
  • 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 Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome. Among its related pathways are Amino acid transport across the plasma membrane and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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 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 , fRNAdb sequence ontologies and piRNA Summary for SLC1A4 Gene

Genomics for SLC1A4 Gene

GeneHancer (GH) Regulatory Elements for SLC1A4 Gene

Promoters and enhancers for SLC1A4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I064987 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 603.2 +0.6 612 4.1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B IRF4 YY1 SLC1A4 GC02M064985 VPS54 RNU6-548P
GH02I064928 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 30.4 -56.6 -56597 7.3 HDGF HDAC1 PKNOX1 SMAD1 RB1 BATF IRF4 ATF7 ETV6 BCLAF1 LINC02245 SLC1A4 RN7SL211P RNU6-548P LINC02576 RAB1A ACTR2 AFTPH SERTAD2
GH02I064982 Enhancer 0.9 ENCODE 48 -6.0 -5983 0.2 PKNOX1 FOXA2 MLX ARID4B IRF4 YY1 ATF7 RUNX3 RXRA JUNB SLC1A4 GC02M064978 GC02M064985
GH02I064914 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.6 -71.5 -71505 5.6 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF766 ZNF207 SLC1A4 LINC02576 RAB1A RNU6-548P CEP68 ACTR2 RN7SL211P LINC02245
GH02I064984 Enhancer 0.6 ENCODE 53.2 -3.0 -2991 1 ZNF687 CBFB ZBED1 JUNB MAX EBF1 BATF ATF2 EP300 ATF3 SLC1A4 GC02M064985 GC02M064978
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC1A4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC1A4 gene promoter:

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)

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 isoforms=201 and posLast=206206

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

Suggested Antigen Peptide Sequences for SLC1A4 Gene

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

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.

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

Inhibitory RNA 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
extracellular 5
cytoskeleton 5

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 ISS,IEA --
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:0006810 transport IEA --
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
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
cystine Approved Nutra 0
L-Threonine Approved Nutra 0
L-Serine Pharma Full agonist, Agonist Weak endogenous glycine receptor agonist 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:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
SLC1A4

Expression for SLC1A4 Gene

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



NURSA nuclear receptor signaling pathways regulating expression of SLC1A4 Gene:

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

Primer Products

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 33 34
  • 99.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SLC1A4 33 34
  • 90.3 (n)
cow
(Bos Taurus)
Mammalia SLC1A4 33 34
  • 88.24 (n)
mouse
(Mus musculus)
Mammalia Slc1a4 33 16 34
  • 86.15 (n)
rat
(Rattus norvegicus)
Mammalia Slc1a4 33
  • 84.25 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC1A4 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC1A4 33 34
  • 76.25 (n)
lizard
(Anolis carolinensis)
Reptilia SLC1A4 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc1a4 33
  • 70.78 (n)
zebrafish
(Danio rerio)
Actinopterygii slc1a4 33 34
  • 72.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta Eaat1 35 34
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea T22E5.2 35
  • 39 (a)
glt-4 34
  • 36 (a)
OneToMany
W03G1.1 35
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

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 Variation AA Info Type
rs1057517664 pathogenic, Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 65,016,583(+) TT/ coding_sequence_variant, frameshift, intron_variant
rs201278558 pathogenic, Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, not provided, Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) [MIM:616657] 65,010,729(+) G/A coding_sequence_variant, missense_variant
rs761533681 pathogenic, likely-pathogenic, Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, not provided, Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) [MIM:616657] 65,020,916(+) C/T coding_sequence_variant, missense_variant
rs144265531 uncertain-significance, not provided 65,020,927(+) G/A coding_sequence_variant, synonymous_variant
rs149636167 uncertain-significance, not provided 64,989,683(+) G/A/T coding_sequence_variant, intron_variant, missense_variant

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

(8) MalaCards diseases for SLC1A4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, 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 22 58
  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 22 44 58
  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 22 44 58
  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 22 58
  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 22 58

Products for SLC1A4 Gene

Sources for SLC1A4 Gene

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