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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
  • 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
  • D2H 3
  • D2h 4

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 Collagen chain trimerization. Gene Ontology (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

Additional gene information for SLC3A1 Gene

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

Genomics for SLC3A1 Gene

GeneHancer (GH) Regulatory Elements for SLC3A1 Gene

Promoters and enhancers for SLC3A1 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
GH02J044275 Promoter/Enhancer 1 EPDnew ENCODE 658.2 +1.9 1855 4.5 SP1 ATF3 REST FOSL2 HNF4A ZSCAN29 SLC3A1 PREPL GC02M044085
GH02J044218 Promoter 0.5 EPDnew 650.2 -56.9 -56938 0.1 SLC3A1 LOC102723904 RPL12P19 PPM1B GC02M044085
GH02J044075 Enhancer 0.7 ENCODE 10.9 -199.6 -199600 1.3 FOXA2 ZBTB21 MAX RAD21 YY1 HNF4G ATF7 RXRA HLF REST RNU6-566P SLC3A1 LRPPRC ENSG00000219391
GH02J044315 Enhancer 0.4 FANTOM5 2.2 +40.3 40346 0.3 ZNF384 ZNF644 SLC3A1 PREPL GC02M044085
GH02J044289 Enhancer 1.1 Ensembl ENCODE 0.4 +16.1 16100 3.2 FOXA2 MLX ARID4B SIN3A YY1 SLC30A9 RXRA MIER2 REST KAT8 LOC100421122 SLC3A1 PREPL GC02M044085
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC3A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC3A1 gene promoter:
  • POU2F1a
  • POU2F1
  • MEF-2A
  • aMEF-2
  • AML1a
  • CUTL1
  • HNF-1A
  • HNF-1
  • RSRFC4

Genomic Locations for SLC3A1 Gene

Genomic Locations for SLC3A1 Gene
chr2:44,275,458-44,321,494
(GRCh38/hg38)
Size:
46,037 bases
Orientation:
Plus strand
chr2:44,502,597-44,548,633
(GRCh37/hg19)
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 isoforms=2, 4575, posLast=513513, isoforms=2, 4, 5, 6, 7495, isoforms=2, 3, 5, 6, 7332, posLast=261261, and isoforms=3, 5, 6, 7214
  • 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 :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for SLC3A1 Gene

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

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.
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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nuclear bodies (1)
See all subcellular structures

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 TAS,IEA 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:0006865 amino acid transport TAS --
GO:0015802 basic amino acid transport TAS 8054986
GO:0015811 L-cystine 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cystine Approved Nutra Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC3A1: view

Transcripts for SLC3A1 Gene

mRNA/cDNA 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:

Clone 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 CGAP 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 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.

Evidence on tissue expression from TISSUES for SLC3A1 Gene

  • Kidney(4.9)
  • Nervous system(4.5)
  • Intestine(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC3A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SLC3A1: view

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 33
  • 99.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC3A1 34 33
  • 86.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC3A1 34 33
  • 84.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc3a1 16 34 33
  • 81.87 (n)
rat
(Rattus norvegicus)
Mammalia Slc3a1 33
  • 81.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC3A1 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC3A1 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC3A1 34 33
  • 66.47 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC3A1 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc3a1 33
  • 61.29 (n)
zebrafish
(Danio rerio)
Actinopterygii slc3a1 34 33
  • 57.8 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008965 33
  • 48.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mal-B2 34 33
  • 48.47 (n)
OneToMany
CG30359 35
  • 41 (a)
CG30360 35
  • 41 (a)
LvpL 35
  • 40 (a)
CG14935 35
  • 40 (a)
CG8690 35
  • 38 (a)
LvpD 35
  • 37 (a)
CG8693 35
  • 37 (a)
LvpH 35
  • 37 (a)
CG11669 35
  • 36 (a)
CG14934 35
  • 36 (a)
Mal-A4 34
  • 35 (a)
OneToMany
Mal-B1 34
  • 35 (a)
OneToMany
Mal-A3 34
  • 34 (a)
OneToMany
Mal-A1 34
  • 34 (a)
OneToMany
Mal-A8 34
  • 33 (a)
OneToMany
Mal-A2 34
  • 33 (a)
OneToMany
Mal-A7 34
  • 33 (a)
OneToMany
Mal-A5 34
  • 32 (a)
OneToMany
Mal-A6 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F26D10.9 35
  • 25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAL12 34
  • 26 (a)
ManyToMany
IMA1 36 34
  • 25 (a)
MAL32 34
  • 25 (a)
ManyToMany
IMA3 34
  • 25 (a)
ManyToMany
IMA2 34
  • 25 (a)
ManyToMany
IMA4 34
  • 25 (a)
ManyToMany
IMA5 34
  • 24 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06523 33
  • 46.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC3A1: view image

Paralogs for SLC3A1 Gene

Paralogs for SLC3A1 Gene

(1) SIMAP similar genes for SLC3A1 Gene using alignment to 12 proteins:

  • SLC31_HUMAN
  • B8ZZK1_HUMAN
  • B8ZZP2_HUMAN
  • C9JBK3_HUMAN
  • E7ENC4_HUMAN
  • E9PC38_HUMAN
  • Q4J6B4_HUMAN
  • Q4J6B5_HUMAN
  • Q4J6B6_HUMAN
  • Q4J6B7_HUMAN
  • Q4J6B8_HUMAN
  • Q4J6B9_HUMAN
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 Variation AA Info Type
rs1023660377 uncertain-significance, Cystinuria 44,275,701(+) G/A coding_sequence_variant, missense_variant
rs1032513393 (CSNU) [MIM:220100] 44,313,856(+) C/G coding_sequence_variant, missense_variant
rs114640930 uncertain-significance, Cystinuria 44,299,965(+) C/G/T intron_variant
rs121912691 pathogenic, Cystinuria, not provided, Cystinuria (CSNU) [MIM:220100], Cystinuria (CSNU) [MIM:220100] 44,312,653(+) T/A/C coding_sequence_variant, missense_variant
rs121912693 pathogenic, Cystinuria, Cystinuria (CSNU) [MIM:220100] 44,320,614(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

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
dgv6838n54 CNV loss 21841781
esv2538552 OTHER inversion 19546169
esv2720000 CNV deletion 23290073
esv2720002 CNV deletion 23290073
esv3575237 CNV gain 25503493
esv3583768 CNV loss 25503493
esv3583769 CNV loss 25503493
esv3590552 CNV loss 21293372
esv3590554 CNV gain 21293372
esv3590555 CNV gain 21293372
esv3892026 CNV loss 25118596
nsv1006405 CNV loss 25217958
nsv1011655 CNV loss 25217958
nsv457196 CNV gain 19166990
nsv521399 CNV loss 19592680
nsv581691 CNV gain 21841781
nsv581692 CNV loss 21841781
nsv581695 CNV gain 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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
cystinuria
  • csnu
hypotonia-cystinuria syndrome
  • cystinuria with mitochondrial disease
nephrolithiasis
  • nephrolithiasis, calcium oxalate
amino acid metabolic disorder
  • inborn errors of amino acid metabolism
lysinuric protein intolerance
  • lpi
- 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.

Additional Disease Information for SLC3A1

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 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 (Molecular genetics and metabolism 2010) 3 4 22 44 58
  2. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. (PMID: 15635077) Font-Llitjós M … Nunes V (Journal of medical genetics 2005) 3 4 22 44 58
  3. Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. (PMID: 11748844) Harnevik L … Söderkvist P (Human mutation 2001) 3 4 22 44 58
  4. Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. (PMID: 9186880) Endsley JK … George AL (Kidney international 1997) 2 3 4 22 58
  5. Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. (PMID: 8486766) Lee WS … Hediger MA (The Journal of clinical investigation 1993) 2 3 4 22 58

Products for SLC3A1 Gene

Sources for SLC3A1 Gene

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