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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
External Ids for SLC1A4 Gene
- HGNC: 10942
- Entrez Gene: 6509
- Ensembl: ENSG00000115902
- OMIM: 600229
- UniProtKB: P43007
Previous GeneCards Identifiers for SLC1A4 Gene
- GC02P065350
- GC02P065173
- GC02P065191
- GC02P065128
- GC02P065070
- GC02P064949
- GC02P065216
Summaries 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.
Additional gene information for SLC1A4 Gene
- HGNC(10942)
- Entrez Gene(6509)
- Ensembl(ENSG00000115902)
- OMIM(600229)
- UniProtKB(P43007)
- Open Targets Platform(ENSG00000115902)
- Monarch Initiative
- Search for SLC1A4 at DataMed
- Search for SLC1A4 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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
- chr2:64,988,477-65,023,865
- (GRCh38/hg38)
- Size:
- 35,389 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:
-
- 2p14 by HGNC
- 2p14 by Entrez Gene
- 2p14 by Ensembl
SLC1A4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B7Z3C0
- D6W5F0
Protein attributes for SLC1A4 Gene
- Size:
- 532 amino acids
- Molecular mass:
- 55723 Da
- Quaternary structure:
- No Data Available
Protein Expression for SLC1A4 Gene
Post-translational modifications for SLC1A4 Gene
Other Protein References for SLC1A4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences SLC1A4 / ASCT1 Antibody (LS-A8979) and SLC1A4 / ASCT1 Antibody (LS-A9771)
- G Biosciences Immunotag™ SLC1A4 Antibody
- NSJ Bioreagents SLC1A4 Antibody
- Novus Biologicals Antibodies for SLC1A4
- Invitrogen Antibodies for SLC1A4 (AFLGC-SLC1A4)
-
Boster Bio Antibodies for SLC1A4
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC1A4
- Sino Biological Antibodies for SLC1A4
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC1A4
- Origene Custom Protein Services for SLC1A4
-
Abcam proteins for SLC1A4
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
- InterPro:
- Blocks:
-
- Sodium:dicarboxylate symporter
- 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
P43007UniProtKB/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.
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
| 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,IMP | 26041762 |
| GO:0015183 | L-aspartate transmembrane transporter activity | ISS | -- |
Phenotypes for SLC1A4 Gene
- GenomeRNAi human phenotypes for SLC1A4:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased IL-8 secretion
- Decreased interferon-beta reporter expression
Animal Model Products
-
Taconic Biosciences Mouse Models for SLC1A4
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC1A4 - Select products 50% OFF >
- * SLC1A4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for SLC1A4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC1A4
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC1A4
miRNA for SLC1A4 Gene
- miRTarBase miRNAs that target SLC1A4
-
- hsa-let-7b-5p (MIRT001595)
- mmu-miR-17-5p (MIRT010004)
- mmu-miR-15a-5p (MIRT011853)
- mmu-miR-297a-5p (MIRT012982)
- mmu-miR-136-5p (MIRT014996)
- hsa-miR-335-5p (MIRT017309)
- hsa-miR-124-3p (MIRT022372)
- hsa-miR-215-5p (MIRT024856)
- hsa-miR-192-5p (MIRT026286)
- hsa-miR-615-3p (MIRT039636)
- hsa-miR-484 (MIRT042374)
- hsa-miR-4800-5p (MIRT532354)
- hsa-miR-4776-5p (MIRT532355)
- hsa-miR-3138 (MIRT532356)
- hsa-miR-7974 (MIRT532357)
- hsa-miR-3619-3p (MIRT532358)
- hsa-miR-4786-5p (MIRT532359)
- hsa-miR-7114-5p (MIRT532360)
- hsa-miR-3681-3p (MIRT532361)
- hsa-miR-216a-3p (MIRT532362)
- hsa-miR-128-3p (MIRT532363)
- hsa-miR-140-3p (MIRT532364)
- hsa-miR-448 (MIRT614607)
- hsa-miR-4643 (MIRT614608)
- hsa-miR-8485 (MIRT614609)
- hsa-miR-4789-5p (MIRT628930)
- hsa-miR-3941 (MIRT628931)
- hsa-miR-1284 (MIRT628932)
- hsa-miR-603 (MIRT628933)
- hsa-miR-362-3p (MIRT628934)
- hsa-miR-329-3p (MIRT628935)
- hsa-miR-4801 (MIRT650608)
- hsa-miR-4731-3p (MIRT650609)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC1A4
- Browse OriGene Inhibitory RNA Products For SLC1A4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC1A4
Clone Products
- Applied Biological Materials (abm): Clones for SLC1A4 - Select products 50% OFF >
- * SLC1A4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC1A4
- Addgene plasmids for SLC1A4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC1A4
Cell Line Products
-
Horizon Cell Lines for SLC1A4
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 4 |
| cytoskeleton | 4 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Centrosome (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005813 | centrosome | IDA | -- |
| GO:0005882 | intermediate filament | IEA,ISS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IC | 8910405 |
| GO:0009986 | cell surface | HDA | 19581412 |
Pathways & Interactions for SLC1A4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
| 2 | Neuroscience | ||
| 3 | Amino acid transport across the plasma membrane | ||
Pathways by source for SLC1A4 Gene
1 Cell Signaling Technology pathway for SLC1A4 Gene
Interacting Proteins for SLC1A4 Gene
GPS-Prot Interaction Network for SLC1A4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003333 | amino acid transmembrane 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 |
No data available for SIGNOR curated interactions for SLC1A4 Gene
Drugs & Compounds for SLC1A4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Threonine | Approved | Nutra | 35 | |||
| cystine | Approved | Nutra | 0 | |||
| hydroxyproline | Experimental | Pharma | 0 | |||
| Serine | Investigational | Nutra | Agonist, Full agonist | Weak endogenous glycine receptor agonist | 1156 | |
| L-Alanine | Nutra | Agonist, Full agonist, Target | Glycine receptor agonist | 198 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| sodium |
|
7440-23-5 |
|
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 :
-
- ENST00000234256 4563 nts (view in UCSC)
- ENST00000471551 461 nts (view in UCSC)
- ENST00000480594 5789 nts (view in UCSC)
- ENST00000493121 766 nts (view in UCSC)
- ENST00000531327 1217 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC1A4 - Select products 50% OFF >
- * SLC1A4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC1A4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC1A4
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC1A4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC1A4
- Browse OriGene Inhibitory RNA Products For SLC1A4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC1A4
Clone Products
- Applied Biological Materials (abm): Clones for SLC1A4 - Select products 50% OFF >
- * SLC1A4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC1A4
- Addgene plasmids for SLC1A4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC1A4
Relevant External Links for SLC1A4 Gene
- GeneLoc Exon Structure for
- SLC1A4
Expression for SLC1A4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Inner Cell Mass (Early Embryonic Tissues)
- Mesenchymal Stem Cells (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
-
Epiblast (Early Embryonic Tissues)
- Primordial Germ Cell Precursors Epiblast
-
Gonad
- Primordial Germ Cell Precursors Epiblast
-
Liver (Hepatobiliary System)
- Perivenous Hepatocytes Liver Lobule
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
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.654352mRNA 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(3.2)
- Blood(2.4)
- Intestine(2.3)
Primer Products
-
OriGene qPCR primer pairs for SLC1A4
-
OriGene qPCR primer pairs and template standards for SLC1A4
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC1A4 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Dog (Canis familiaris) |
Mammalia | SLC1A4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC1A4 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slc1a4 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc1a4 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SLC1A4 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC1A4 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC1A4 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc1a4 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc1a4 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Eaat1 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | T22E5.2 32 |
|
|
|
| glt-4 31 |
|
OneToMany | |||
| W03G1.1 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for SLC1A4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
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 |
|---|---|---|---|---|---|
| 715904 | Benign: not provided | 65,020,997(+) | A/G | MISSENSE_VARIANT | |
| 730956 | Benign: not provided | 65,018,668(+) | G/A | SYNONYMOUS_VARIANT | |
| 731303 | Benign: not provided | 65,021,068(+) | G/A | SYNONYMOUS_VARIANT | |
| 736001 | Likely Benign: not provided | 65,016,638(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 737644 | Benign: not provided | 65,018,242(+) | C/T | SYNONYMOUS_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC1A4 Gene
Disorders for SLC1A4 Gene
(12) MalaCards diseases for SLC1A4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
|
|
| hartnup disorder |
|
|
| microcephaly |
|
|
| spasticity |
|
|
| phosphoserine aminotransferase deficiency |
|
|
Search SLC1A4 in MalaCards
View complete list of genes associated with diseases
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
- Open Targets Platform
No data available for Genatlas for SLC1A4 Gene
Publications for SLC1A4 Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for SLC1A4 Gene
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- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC1A4
- Origene Custom Protein Services for SLC1A4
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC1A4
- Browse OriGene Inhibitory RNA Products For SLC1A4
- OriGene qPCR primer pairs for SLC1A4
- OriGene qPCR primer pairs and template standards for SLC1A4
- OriGene CRISPR knockouts for SLC1A4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SLC1A4
- Novus Biologicals proteins and lysates for SLC1A4
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for SLC1A4
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for SLC1A4
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for SLC1A4 (AFLGC-SLC1A4)
- VectorBuilder Custom and pre-made DNA vectors for SLC1A4 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SLC1A4 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SLC1A4 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SLC1A4 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SLC1A4
- Addgene plasmids for SLC1A4
- antibodies-online: Show 14 available SLC1A4 Antibodies ranked by validation data
- Compare Top SLC1A4 Antibodies
- antibodies-online: Search results for available SLC1A4 related products ranked by validation data
- antibodies-online: Show 4 available SLC1A4 Proteins ranked by validation data
- Compare Top SLC1A4 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for SLC1A4
- Search Santa Cruz Biotechnology (SCBT) for SLC1A4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SLC1A4
- Horizon Cell Lines for SLC1A4
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC1A4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC1A4
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SLC1A4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC1A4
- Boster Bio Antibodies for SLC1A4
- Browse Boster Bio ELISA Kits
Sources for SLC1A4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB