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Aliases for SLC3A1 Gene

Aliases for SLC3A1 Gene

  • Solute Carrier Family 3 (Amino Acid Transporter Heavy Chain), Member 1 2 3
  • NBAT 3 4 6
  • D2H 3 4 6
  • Solute Carrier Family 3 (Cystine, Dibasic And Neutral Amino Acid Transporters, Activator Of Cystine, Dibasic And Neutral Amino Acid Transport), Member 1 2 3
  • B(0,+)-Type Amino Acid Transport Protein 3 4
  • Solute Carrier Family 3 Member 1 3 4
  • ATR1 3 6
  • RBAT 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

External Ids for SLC3A1 Gene

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 (Amino Acid Transporter Heavy Chain), Member 1) is a Protein Coding gene. Diseases associated with SLC3A1 include cystinuria and 2p21 microdeletion 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 L-cystine transmembrane transporter activity. 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

Genomic Location for SLC3A1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC3A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC3A1 Gene

Regulatory Elements 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

Proteomics data for SLC3A1 Gene at MOPED

Post-translational modifications for SLC3A1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn214, Asn261, Asn332, Asn495, Asn513, and Asn575

Other Protein References for SLC3A1 Gene

No data available for DME Specific Peptides for SLC3A1 Gene

Domains for SLC3A1 Gene

Gene Families for SLC3A1 Gene

HGNC:
  • SLC :Solute carriers
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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for SLC3A1 Gene COMPARTMENTS Subcellular localization image for SLC3A1 gene
Compartment Confidence
plasma membrane 4
mitochondrion 2
vacuole 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
nucleus 1
peroxisome 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 --
GO:0016020 membrane TAS 8054986
genes like me logo Genes that share ontologies with SLC3A1: view

Pathways for SLC3A1 Gene

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

Interacting Proteins for SLC3A1 Gene

Gene Ontology (GO) - Biological Process for SLC3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport TAS 10799513
GO:0005975 carbohydrate metabolic process IEA --
GO:0006520 cellular amino acid metabolic process TAS 8054986
GO:0006811 ion transport TAS --
GO:0006865 amino acid transport TAS --
genes like me logo Genes that share ontologies with SLC3A1: view

Compounds for SLC3A1 Gene

(2) HMDB Compounds for SLC3A1 Gene

Compound Synonyms Cas Number PubMed IDs
L-Cystine
  • (-)-Cystine
56-89-3
Sodium
  • Sodium
7440-23-5

(1) Drugbank Compounds for SLC3A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Cystine
  • (-)-Cystine
56-89-3 target

(16) Novoseek inferred chemical compound relationships for SLC3A1 Gene

Compound -log(P) Hits PubMed IDs
cystine 93.1 50
ornithine 64.7 1
arginine 58.9 7
lysine 52 1
leucine 32.4 2
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:

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 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 (25.2), Pancreas (11.4), and Small Intestine - Terminal Ileum (8.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SLC3A1 Gene

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 expressions with SLC3A1: view

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 35
  • 99.42 (n)
  • 98.54 (a)
SLC3A1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC3A1 35
  • 86.42 (n)
  • 81.9 (a)
SLC3A1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC3A1 35
  • 84.72 (n)
  • 79.42 (a)
SLC3A1 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc3a1 35
  • 81.87 (n)
  • 80.56 (a)
Slc3a1 16
Slc3a1 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC3A1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC3A1 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc3a1 35
  • 81.57 (n)
  • 80.06 (a)
chicken
(Gallus gallus)
Aves SLC3A1 35
  • 66.47 (n)
  • 61.35 (a)
SLC3A1 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC3A1 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc3a1 35
  • 61.29 (n)
  • 56.6 (a)
zebrafish
(Danio rerio)
Actinopterygii slc3a1 35
  • 57.8 (n)
  • 55.48 (a)
slc3a1 36
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008965 35
  • 48.61 (n)
  • 40.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mal-A1 36
  • 34 (a)
OneToMany
Mal-A2 36
  • 33 (a)
OneToMany
Mal-A3 36
  • 34 (a)
OneToMany
Mal-A4 36
  • 35 (a)
OneToMany
Mal-A5 36
  • 32 (a)
OneToMany
Mal-A6 36
  • 32 (a)
OneToMany
Mal-A7 36
  • 33 (a)
OneToMany
Mal-A8 36
  • 33 (a)
OneToMany
Mal-B1 36
  • 35 (a)
OneToMany
Mal-B2 35
  • 48.47 (n)
  • 39.69 (a)
Mal-B2 36
  • 36 (a)
OneToMany
LvpH 37
  • 37 (a)
CG30359 37
  • 41 (a)
CG14934 37
  • 36 (a)
LvpL 37
  • 40 (a)
CG11669 37
  • 36 (a)
CG8690 37
  • 38 (a)
CG14935 37
  • 40 (a)
LvpD 37
  • 37 (a)
CG8693 37
  • 37 (a)
CG30360 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea F26D10.9 37
  • 25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMA1 36
  • 25 (a)
ManyToMany
IMA1 38
IMA2 36
  • 25 (a)
ManyToMany
IMA3 36
  • 25 (a)
ManyToMany
IMA4 36
  • 25 (a)
ManyToMany
IMA5 36
  • 24 (a)
ManyToMany
MAL12 36
  • 26 (a)
ManyToMany
MAL32 36
  • 25 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06523 35
  • 46.16 (n)
  • 35.56 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for SLC3A1:
  • 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 MAF
rs713447 -- 44,278,046(+) ATATT(G/T)TGTTG intron-variant
rs1372080 -- 44,313,102(+) TATGA(C/T)TCATT intron-variant
rs1946932 -- 44,315,986(-) CTGGT(C/G)TCTGT intron-variant
rs2005203 -- 44,314,586(+) AGCAC(C/T)CTCTG intron-variant
rs2304768 -- 44,312,564(+) GTGTT(C/G)TTAAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2751893 CNV Loss 17911159
nsv833936 CNV Loss 17160897
dgv4109n71 CNV Loss 21882294
nsv457196 CNV Gain 19166990
nsv521399 CNV Loss 19592680
dgv635e201 CNV Deletion 23290073
esv2720000 CNV Deletion 23290073
esv2720002 CNV Deletion 23290073
nsv873986 CNV Gain 21882294
esv2538552 OTHER Inversion 19546169

Relevant External Links for SLC3A1 Gene

HapMap Linkage Disequilibrium report
SLC3A1
Human Gene Mutation Database (HGMD)
SLC3A1

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

Disorders for SLC3A1 Gene

(1) OMIM Diseases for SLC3A1 Gene (104614)

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.

(2) University of Copenhagen DISEASES for SLC3A1 Gene

(5) Novoseek inferred disease relationships for SLC3A1 Gene

Disease -log(P) Hits PubMed IDs
cystinuria 99.1 155
aminoaciduria 88 2
nephrolithiasis 79.1 4
lysinuric protein intolerance 69.3 3
metabolic disorder 17.7 1

Relevant External Links for SLC3A1

Genetic Association Database (GAD)
SLC3A1
Human Genome Epidemiology (HuGE) Navigator
SLC3A1
genes like me logo Genes that share disorders with SLC3A1: view

Publications for SLC3A1 Gene

  1. 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 23
  2. 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 23
  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 23 48
  4. 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 23 48
  5. 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 23 48

Products for SLC3A1 Gene

Sources for SLC3A1 Gene

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