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Aliases for SLC3A1 Gene

Aliases for SLC3A1 Gene

  • Solute Carrier Family 3 Member 1 2 3 4 5
  • Solute Carrier Family 3 (Cystine, Dibasic And Neutral Amino Acid Transporters, Activator Of Cystine, Dibasic And Neutral Amino Acid Transport), Member 1 2 3
  • Solute Carrier Family 3 (Amino Acid Transporter Heavy Chain), Member 1 2 3
  • B(0,+)-Type Amino Acid Transport Protein 3 4
  • NBAT 3 4
  • RBAT 3 4
  • D2H 3 4
  • Solute Carrier Family 3 (Cystine, Dibasic And Neutral Amino Acid Transporters), Member 1 3
  • Neutral And Basic Amino Acid Transport Protein RBAT 3
  • Amino Acid Transporter 1 3
  • SLC3A1 Variant B 3
  • SLC3A1 Variant C 3
  • SLC3A1 Variant D 3
  • SLC3A1 Variant E 3
  • SLC3A1 Variant F 3
  • SLC3A1 Variant G 3
  • CSNU1 3
  • ATR1 3

External Ids for SLC3A1 Gene

Previous GeneCards Identifiers for SLC3A1 Gene

  • GC02P044501
  • GC02P044671
  • GC02P044477
  • GC02P044414
  • GC02P044356
  • GC02P044503

Summaries for SLC3A1 Gene

Entrez Gene Summary for SLC3A1 Gene

  • This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC3A1 Gene

SLC3A1 (Solute Carrier Family 3 Member 1) is a Protein Coding gene. Diseases associated with SLC3A1 include Cystinuria and Hypotonia-Cystinuria Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Protein digestion and absorption. GO annotations related to this gene include protein heterodimerization activity and cation binding. An important paralog of this gene is SLC3A2.

UniProtKB/Swiss-Prot for SLC3A1 Gene

  • Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule.

Gene Wiki entry for SLC3A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC3A1 Gene

Genomics for SLC3A1 Gene

Regulatory Elements for SLC3A1 Gene

Enhancers for SLC3A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F044275 0.8 Ensembl ENCODE 8.2 +1.9 1855 4.5 JUND PRDM12 ZBTB11 ZSCAN29 ZNF518A ZNF781 SLC3A1 PREPL
GH02F044075 0.6 ENCODE 10.9 -199.6 -199600 1.3 ZNF692 ATF3 HLF HNF4G CEBPB ZBTB33 YY1 RNU6-566P SLC3A1 LRPPRC ENSG00000219391
GH02F044315 0.8 FANTOM5 2.2 +40.3 40347 0.3 HDAC1 TBL1XR1 TAL1 ZNF384 ZNF644 GATA2 NCOR1 STAT2 SMARCE1 STAT1 SLC3A1 PREPL
GH02F044289 1.2 Ensembl ENCODE 0.3 +16.1 16100 3.2 ELF3 MLX ARID4B SIN3A RAD21 RARA YY1 SLC30A9 GATA2 MIXL1 LOC100421122 SLC3A1 PREPL
GH02F044286 0.6 ENCODE 0.4 +11.6 11599 0.2 GATA3 FOS EZH2 TCF7L2 YY1 SLC3A1 PREPL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC3A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC3A1 Gene

Chromosome:
2
Start:
44,275,458 bp from pter
End:
44,321,494 bp from pter
Size:
46,037 bases
Orientation:
Plus strand

Genomic View for SLC3A1 Gene

Genes around SLC3A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC3A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC3A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC3A1 Gene

Proteins for SLC3A1 Gene

  • Protein details for SLC3A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07837-SLC31_HUMAN
    Recommended name:
    Neutral and basic amino acid transport protein rBAT
    Protein Accession:
    Q07837
    Secondary Accessions:
    • A8K0S1
    • O00658
    • Q15295
    • Q4J6B4
    • Q4J6B5
    • Q4J6B6
    • Q4J6B7
    • Q4J6B8
    • Q4J6B9
    • Q52M92
    • Q52M94

    Protein attributes for SLC3A1 Gene

    Size:
    685 amino acids
    Molecular mass:
    78852 Da
    Quaternary structure:
    • Disulfide-linked heterodimer with the amino acid transport protein SLC7A9.

    Alternative splice isoforms for SLC3A1 Gene

neXtProt entry for SLC3A1 Gene

Post-translational modifications for SLC3A1 Gene

  • Glycosylation at Asn 214, Asn 261, Asn 332, Asn 495, Asn 513, and Asn 575
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC3A1 Gene

Domains & Families for SLC3A1 Gene

Gene Families for SLC3A1 Gene

HGNC:
IUPHAR :

Suggested Antigen Peptide Sequences for SLC3A1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SLC3A1: view

No data available for UniProtKB/Swiss-Prot for SLC3A1 Gene

Function for SLC3A1 Gene

Molecular function for SLC3A1 Gene

GENATLAS Biochemistry:
solute carrier family 3 (cystine/dibasic,neutral aminoacid transport),member 1,expressed (noteworthy) in kidney and small intestine,heterodimerizing with BO+AT (SLC3A1) located in the brush border of the plasma membrane of epithelial cells of the proximal straight tubule of the nephron,mediating high affinity y+L-type transporter exchanging cationic aminoacids and/or neutral aminoacids,sodium independent transport system for cationic and dipolar aminoacids
UniProtKB/Swiss-Prot Function:
Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule.

Gene Ontology (GO) - Molecular Function for SLC3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 12167606
GO:0015171 amino acid transmembrane transporter activity TAS 10799513
GO:0015174 basic amino acid transmembrane transporter activity TAS 8054986
GO:0015184 L-cystine transmembrane transporter activity TAS 8054986
genes like me logo Genes that share ontologies with SLC3A1: view
genes like me logo Genes that share phenotypes with SLC3A1: view

Human Phenotype Ontology for SLC3A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for SLC3A1 Gene

miRTarBase miRNAs that target SLC3A1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC3A1 Gene

Localization for SLC3A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC3A1 Gene

Membrane; Single-pass type II membrane protein.

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 SLC3A1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 3
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA --
GO:0005774 vacuolar membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA,TAS --
GO:0016020 membrane IEA,TAS 8054986
genes like me logo Genes that share ontologies with SLC3A1: view

Pathways & Interactions for SLC3A1 Gene

genes like me logo Genes that share pathways with SLC3A1: view

Gene Ontology (GO) - Biological Process for SLC3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006520 cellular amino acid metabolic process TAS 8054986
GO:0006810 transport IEA --
GO:0006865 amino acid transport TAS --
GO:0015802 basic amino acid transport TAS 8054986
genes like me logo Genes that share ontologies with SLC3A1: view

No data available for SIGNOR curated interactions for SLC3A1 Gene

Drugs & Compounds for SLC3A1 Gene

(11) Drugs for SLC3A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Cystine Approved Nutra Target 0

(6) Additional Compounds for SLC3A1 Gene - From: Novoseek and HMDB

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 SLC3A1: view

Transcripts for SLC3A1 Gene

Unigene Clusters for SLC3A1 Gene

Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC3A1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - -
SP3: -
SP4: - -
SP5:
SP6: - -
SP7: - - - -
SP8: -

Relevant External Links for SLC3A1 Gene

GeneLoc Exon Structure for
SLC3A1
ECgene alternative splicing isoforms for
SLC3A1

Expression for SLC3A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC3A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC3A1 Gene

This gene is overexpressed in Kidney - Cortex (x25.2), Pancreas (x11.4), and Small Intestine - Terminal Ileum (x8.2).

Protein differential expression in normal tissues from HIPED for SLC3A1 Gene

This gene is overexpressed in Urine (44.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC3A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC3A1 Gene:

SLC3A1

SOURCE GeneReport for Unigene cluster for SLC3A1 Gene:

Hs.112916

mRNA Expression by UniProt/SwissProt for SLC3A1 Gene:

Q07837-SLC31_HUMAN
Tissue specificity: Expressed in the brush border membrane in the kidney (at protein level). Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver.
genes like me logo Genes that share expression patterns with SLC3A1: view

Primer Products

No data available for Protein tissue co-expression partners for SLC3A1 Gene

Orthologs for SLC3A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC3A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC3A1 34 35
  • 99.42 (n)
cow
(Bos Taurus)
Mammalia SLC3A1 34 35
  • 86.42 (n)
dog
(Canis familiaris)
Mammalia SLC3A1 34 35
  • 84.72 (n)
mouse
(Mus musculus)
Mammalia Slc3a1 34 16 35
  • 81.87 (n)
rat
(Rattus norvegicus)
Mammalia Slc3a1 34
  • 81.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC3A1 35
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC3A1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC3A1 34 35
  • 66.47 (n)
lizard
(Anolis carolinensis)
Reptilia SLC3A1 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc3a1 34
  • 61.29 (n)
zebrafish
(Danio rerio)
Actinopterygii slc3a1 34 35
  • 57.8 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008965 34
  • 48.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mal-B2 34 35
  • 48.47 (n)
CG30359 36
  • 41 (a)
CG30360 36
  • 41 (a)
CG14935 36
  • 40 (a)
LvpL 36
  • 40 (a)
CG8690 36
  • 38 (a)
CG8693 36
  • 37 (a)
LvpD 36
  • 37 (a)
LvpH 36
  • 37 (a)
CG11669 36
  • 36 (a)
CG14934 36
  • 36 (a)
Mal-A4 35
  • 35 (a)
OneToMany
Mal-B1 35
  • 35 (a)
OneToMany
Mal-A1 35
  • 34 (a)
OneToMany
Mal-A3 35
  • 34 (a)
OneToMany
Mal-A2 35
  • 33 (a)
OneToMany
Mal-A7 35
  • 33 (a)
OneToMany
Mal-A8 35
  • 33 (a)
OneToMany
Mal-A5 35
  • 32 (a)
OneToMany
Mal-A6 35
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F26D10.9 36
  • 25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAL12 35
  • 26 (a)
ManyToMany
IMA1 35 37
  • 25 (a)
ManyToMany
IMA2 35
  • 25 (a)
ManyToMany
IMA3 35
  • 25 (a)
ManyToMany
IMA4 35
  • 25 (a)
ManyToMany
MAL32 35
  • 25 (a)
ManyToMany
IMA5 35
  • 24 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06523 34
  • 46.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToOne
Species where no ortholog for SLC3A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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 SLC3A1 Gene

ENSEMBL:
Gene Tree for SLC3A1 (if available)
TreeFam:
Gene Tree for SLC3A1 (if available)

Paralogs for SLC3A1 Gene

Paralogs for SLC3A1 Gene

genes like me logo Genes that share paralogs with SLC3A1: view

Variants for SLC3A1 Gene

Sequence variations from dbSNP and Humsavar for SLC3A1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121912691 Cystinuria (CSNU) [MIM:220100], Cystinuria (CSNU) [MIM:220100], Pathogenic 44,312,653(+) GAACA(A/C/T)GCTTC reference, missense
rs121912693 Cystinuria (CSNU) [MIM:220100], Pathogenic 44,320,614(+) TGTAC(C/T)GAACA reference, missense, utr-variant-3-prime
rs121912694 Cystinuria (CSNU) [MIM:220100], Pathogenic 44,280,827(+) TTTCC(A/G/T)GGAAG reference, missense
rs121912695 Cystinuria (CSNU) [MIM:220100], Pathogenic 44,320,536(+) CAACA(C/G/T)GAAGA reference, missense, utr-variant-3-prime
rs121912696 Cystinuria (CSNU) [MIM:220100], Pathogenic 44,320,424(+) GCCTT(A/C)CCGCT reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC3A1 Gene

Variant ID Type Subtype PubMed ID
dgv3798n100 CNV loss 25217958
dgv3799n100 CNV loss 25217958
dgv594e201 CNV deletion 23290073
dgv6837n54 CNV loss 21841781
nsv581695 CNV gain 21841781
nsv581692 CNV loss 21841781
nsv581691 CNV gain 21841781
nsv521399 CNV loss 19592680
nsv457196 CNV gain 19166990
nsv1011655 CNV loss 25217958
nsv1006405 CNV loss 25217958
esv3892026 CNV loss 25118596
esv3590555 CNV gain 21293372
esv3590554 CNV gain 21293372
esv3590552 CNV loss 21293372
esv3583769 CNV loss 25503493
esv3583768 CNV loss 25503493
esv3575237 CNV gain 25503493
esv2720002 CNV deletion 23290073
esv2720000 CNV deletion 23290073
esv2538552 OTHER inversion 19546169
dgv6838n54 CNV loss 21841781

Variation tolerance for SLC3A1 Gene

Residual Variation Intolerance Score: 34.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.84; 73.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC3A1 Gene

Human Gene Mutation Database (HGMD)
SLC3A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC3A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC3A1 Gene

Disorders for SLC3A1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SLC3A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cystinuria
  • csnu
hypotonia-cystinuria syndrome
  • 2p21 microdeletion syndrome
nephrolithiasis
  • calculus of kidney and ureter
amino acid metabolic disorder
  • inborn errors of amino acid metabolism
lysinuric protein intolerance
  • dibasic amino aciduria ii
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SLC31_HUMAN
  • Cystinuria (CSNU) [MIM:220100]: An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure. {ECO:0000269 PubMed:10738006, ECO:0000269 PubMed:11748844, ECO:0000269 PubMed:12234283, ECO:0000269 PubMed:15635077, ECO:0000269 PubMed:16138908, ECO:0000269 PubMed:16609684, ECO:0000269 PubMed:19782624, ECO:0000269 PubMed:7539209, ECO:0000269 PubMed:7573036, ECO:0000269 PubMed:7575432, ECO:0000269 PubMed:8054986, ECO:0000269 PubMed:9186880}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypotonia-cystinuria syndrome (HCS) [MIM:606407]: Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. {ECO:0000269 PubMed:16385448}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC3A1

Genetic Association Database (GAD)
SLC3A1
Human Genome Epidemiology (HuGE) Navigator
SLC3A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC3A1
genes like me logo Genes that share disorders with SLC3A1: view

No data available for Genatlas for SLC3A1 Gene

Publications for SLC3A1 Gene

  1. Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. (PMID: 19782624) Bisceglia L. … Zelante L. (Mol. Genet. Metab. 2010) 3 4 22 46 64
  2. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. (PMID: 15635077) Font-LlitjA^s M. … Nunes V. (J. Med. Genet. 2005) 3 4 22 46 64
  3. Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. (PMID: 11748844) Harnevik L. … Soederkvist P. (Hum. Mutat. 2001) 3 4 22 46 64
  4. Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. (PMID: 9186880) Endsley J.K. … George A.L. Jr. (Kidney Int. 1997) 2 3 4 22 64
  5. Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. (PMID: 8486766) Lee W.-S. … Hediger M.A. (J. Clin. Invest. 1993) 2 3 4 22 64

Products for SLC3A1 Gene

Sources for SLC3A1 Gene

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