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Aliases for SLC6A19 Gene

Aliases for SLC6A19 Gene

  • Solute Carrier Family 6 Member 19 2 3 4 5
  • Solute Carrier Family 6 (Neutral Amino Acid Transporter), Member 19 2 3
  • System B(0) Neutral Amino Acid Transporter AT1 3 4
  • B0AT1 3 4
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 19 3
  • Sodium-Dependent Neutral Amino Acid Transporter B(0)AT1 3
  • Sodium-Dependent Amino Acid Transporter System B0 3
  • System B0 Neutral Amino Acid Transporter 3
  • Hartnup Disease 2
  • HND 3

External Ids for SLC6A19 Gene

Previous GeneCards Identifiers for SLC6A19 Gene

  • GC05P001256
  • GC05P001257

Summaries for SLC6A19 Gene

Entrez Gene Summary for SLC6A19 Gene

  • This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC6A19 Gene

SLC6A19 (Solute Carrier Family 6 Member 19) is a Protein Coding gene. Diseases associated with SLC6A19 include Hartnup Disorder and Hyperglycinuria. 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. GO annotations related to this gene include neurotransmitter:sodium symporter activity and neutral amino acid transmembrane transporter activity. An important paralog of this gene is SLC6A18.

UniProtKB/Swiss-Prot for SLC6A19 Gene

  • Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells. This uptake is sodium-dependent and chloride-independent.

Gene Wiki entry for SLC6A19 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A19 Gene

Genomics for SLC6A19 Gene

Regulatory Elements for SLC6A19 Gene

Enhancers for SLC6A19 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
GH05G001180 2 FANTOM5 Ensembl ENCODE dbSUPER 23.8 -17.7 -17663 6.5 HDGF PKNOX1 MLX ARNT SIN3A ARID4B YBX1 YY1 ZNF766 KLF13 CTD-3080P12.3 SLC6A19 SLC6A18 SLC6A3 BRD9 TRIP13
GH05G001151 1.4 FANTOM5 ENCODE dbSUPER 12.4 -48.5 -48483 2.6 PKNOX1 NFIB ZSCAN4 BMI1 THRB ZBTB7B GLIS2 ZNF207 RELB RCOR1 CTD-3080P12.3 SLC6A19 ENSG00000250173 SLC6A18 TERT TRIP13 BRD9 SLC6A3 ZDHHC11 SLC12A7
GH05G001154 0.6 dbSUPER 12.4 -46.2 -46206 0.9 KLF1 PKNOX1 SP2 RBBP5 RARA NR2F6 PCBP1 SMAD4 EZH2 SLC6A19 CTD-3080P12.3 ENSG00000250173 SLC6A18 TERT BRD9 TRIP13 SLC6A3 SLC12A7 GC05P001123
GH05G001155 0.5 dbSUPER 12.4 -45.4 -45374 0.5 CTCF SUZ12 RBBP5 EZH2 BRD9 SLC6A19 CTD-3080P12.3 ENSG00000250173 SLC6A18 TERT TRIP13 SLC6A3 SLC12A7 PIR51501
GH05G001187 0.4 dbSUPER 8.1 -13.9 -13850 0.8 ZIC2 SLC6A18 SLC6A3 TRIP13 BRD9 SLC6A19 CTD-3080P12.3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC6A19 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC6A19 Gene

Chromosome:
5
Start:
1,201,595 bp from pter
End:
1,225,117 bp from pter
Size:
23,523 bases
Orientation:
Plus strand

Genomic View for SLC6A19 Gene

Genes around SLC6A19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A19 Gene

Proteins for SLC6A19 Gene

  • Protein details for SLC6A19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q695T7-S6A19_HUMAN
    Recommended name:
    Sodium-dependent neutral amino acid transporter B(0)AT1
    Protein Accession:
    Q695T7
    Secondary Accessions:
    • A8K446

    Protein attributes for SLC6A19 Gene

    Size:
    634 amino acids
    Molecular mass:
    71110 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC6A19 Gene

Post-translational modifications for SLC6A19 Gene

  • Glycosylation at isoforms=158, Asn182, isoforms=258, Asn354, and Asn368
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A19 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC6A19 Gene

Domains & Families for SLC6A19 Gene

Gene Families for SLC6A19 Gene

Protein Domains for SLC6A19 Gene

Suggested Antigen Peptide Sequences for SLC6A19 Gene

Graphical View of Domain Structure for InterPro Entry

Q695T7

UniProtKB/Swiss-Prot:

S6A19_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily.
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily.
genes like me logo Genes that share domains with SLC6A19: view

Function for SLC6A19 Gene

Molecular function for SLC6A19 Gene

UniProtKB/Swiss-Prot Function:
Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells. This uptake is sodium-dependent and chloride-independent.

Gene Ontology (GO) - Molecular Function for SLC6A19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015175 neutral amino acid transmembrane transporter activity IBA,IEA --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC6A19: view
genes like me logo Genes that share phenotypes with SLC6A19: view

Human Phenotype Ontology for SLC6A19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC6A19 Gene

MGI Knock Outs for SLC6A19:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC6A19

CRISPR Products

miRNA for SLC6A19 Gene

miRTarBase miRNAs that target SLC6A19

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC6A19 Gene

Localization for SLC6A19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A19 Gene

Membrane; Multi-pass 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 SLC6A19 gene
Compartment Confidence
plasma membrane 5
extracellular 5

Gene Ontology (GO) - Cellular Components for SLC6A19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031526 brush border membrane IEA --
genes like me logo Genes that share ontologies with SLC6A19: view

Pathways & Interactions for SLC6A19 Gene

genes like me logo Genes that share pathways with SLC6A19: view

Interacting Proteins for SLC6A19 Gene

Gene Ontology (GO) - Biological Process for SLC6A19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IEA --
GO:0006810 transport IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0006865 amino acid transport TAS --
GO:0007584 response to nutrient IEA --
genes like me logo Genes that share ontologies with SLC6A19: view

No data available for SIGNOR curated interactions for SLC6A19 Gene

Drugs & Compounds for SLC6A19 Gene

(3) Additional Compounds for SLC6A19 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC6A19: view

Transcripts for SLC6A19 Gene

mRNA/cDNA for SLC6A19 Gene

Unigene Clusters for SLC6A19 Gene

Solute carrier family 6 (neutral amino acid transporter), member 19:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A19 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1:
SP2: -

Relevant External Links for SLC6A19 Gene

GeneLoc Exon Structure for
SLC6A19
ECgene alternative splicing isoforms for
SLC6A19

Expression for SLC6A19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC6A19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A19 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x35.0) and Kidney - Cortex (x13.2).

Protein differential expression in normal tissues from HIPED for SLC6A19 Gene

This gene is overexpressed in Urine (57.9) and Fetal gut (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC6A19 Gene



Protein tissue co-expression partners for SLC6A19 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC6A19 Gene:

SLC6A19

SOURCE GeneReport for Unigene cluster for SLC6A19 Gene:

Hs.481478

mRNA Expression by UniProt/SwissProt for SLC6A19 Gene:

Q695T7-S6A19_HUMAN
Tissue specificity: Robust expression in kidney and small intestine, with minimal expression in pancreas. Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus, heart or lung.

Evidence on tissue expression from TISSUES for SLC6A19 Gene

  • Kidney(4.8)
  • Intestine(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A19 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
Pelvis:
  • ureter
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SLC6A19: view

Primer Products

Orthologs for SLC6A19 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A19 34 35
  • 96.41 (n)
dog
(Canis familiaris)
Mammalia SLC6A19 34 35
  • 87.22 (n)
cow
(Bos Taurus)
Mammalia SLC6A19 34 35
  • 87.07 (n)
rat
(Rattus norvegicus)
Mammalia Slc6a19 34
  • 84.2 (n)
mouse
(Mus musculus)
Mammalia Slc6a19 34 16 35
  • 83.83 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC6A19 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A19 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC6A19 34 35
  • 71.56 (n)
lizard
(Anolis carolinensis)
Reptilia SLC6A19 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a19 34
  • 65.77 (n)
zebrafish
(Danio rerio)
Actinopterygii slc6a19a 35
  • 68 (a)
OneToMany
slc6a19b 34 35
  • 67.32 (n)
CU856173.1 35
  • 67 (a)
OneToMany
wufd58f10 34
fruit fly
(Drosophila melanogaster)
Insecta CG10804 35
  • 36 (a)
ManyToMany
CG43066 35
  • 36 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
OneToMany
Species where no ortholog for SLC6A19 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)
  • worm (Caenorhabditis elegans)

Evolution for SLC6A19 Gene

ENSEMBL:
Gene Tree for SLC6A19 (if available)
TreeFam:
Gene Tree for SLC6A19 (if available)

Paralogs for SLC6A19 Gene

Paralogs for SLC6A19 Gene

genes like me logo Genes that share paralogs with SLC6A19: view

Variants for SLC6A19 Gene

Sequence variations from dbSNP and Humsavar for SLC6A19 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121434346 Pathogenic, Hartnup disorder (HND) [MIM:234500] 1,212,338(+) CTGTG(A/G)ACTAC reference, missense
rs200745023 Hartnup disorder (HND) [MIM:234500] 1,213,524(+) AGGCC(C/T)GACGC reference, missense
rs762989809 Hartnup disorder (HND) [MIM:234500] 1,201,819(+) TGTGG(A/C/T)GCTTC reference, missense
VAR_023319 Hartnup disorder (HND) [MIM:234500]
rs121434347 Pathogenic 1,213,517(+) TCATC(C/T)GAGGC reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for SLC6A19 Gene

Variant ID Type Subtype PubMed ID
dgv3196e59 CNV duplication 20981092
dgv687n27 CNV gain 19166990
esv2729441 CNV deletion 23290073
esv2729442 CNV deletion 23290073
esv2729443 CNV deletion 23290073
esv2729444 CNV deletion 23290073
esv2729445 CNV deletion 23290073
esv3416495 CNV duplication 20981092
esv3575810 CNV gain 25503493
esv3603797 CNV gain 21293372
esv3894109 CNV gain 25118596
nsv1033961 CNV gain 25217958
nsv1114639 CNV deletion 24896259
nsv1119021 CNV deletion 24896259
nsv1126058 CNV deletion 24896259
nsv1133013 OTHER inversion 24896259
nsv1143305 CNV deletion 24896259
nsv1147234 OTHER inversion 26484159
nsv4678 CNV deletion 18451855
nsv470984 CNV loss 18288195
nsv470986 CNV gain 18288195
nsv509044 CNV insertion 20534489
nsv510895 OTHER complex 20534489
nsv527182 CNV loss 19592680
nsv596629 CNV gain 21841781
nsv596824 CNV loss 21841781
nsv596831 CNV gain 21841781
nsv950627 CNV deletion 24416366

Variation tolerance for SLC6A19 Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.44; 77.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC6A19 Gene

Human Gene Mutation Database (HGMD)
SLC6A19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A19 Gene

Disorders for SLC6A19 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC6A19 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hartnup disorder
  • hartnup disease
hyperglycinuria
  • glycinuria with or without oxalate nephrolithiasis
iminoglycinuria, digenic
  • iminoglycinuria
aminoaciduria
pellagra
  • niacin deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S6A19_HUMAN
  • Hartnup disorder (HND) [MIM:234500]: Autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria. {ECO:0000269 PubMed:15286787, ECO:0000269 PubMed:15286788}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hyperglycinuria (HG) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. {ECO:0000269 PubMed:19033659}. Note=The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria.
  • Iminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. {ECO:0000269 PubMed:19033659}. Note=The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.

Relevant External Links for SLC6A19

Genetic Association Database (GAD)
SLC6A19
Human Genome Epidemiology (HuGE) Navigator
SLC6A19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC6A19
genes like me logo Genes that share disorders with SLC6A19: view

No data available for Genatlas for SLC6A19 Gene

Publications for SLC6A19 Gene

  1. Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. (PMID: 15286788) Seow H.F. … Rasko J.E.J. (Nat. Genet. 2004) 3 4 22 64
  2. Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. (PMID: 20399395) Cheon C.K. … Yoo H.W. (Pediatr. Neurol. 2010) 3 22 64
  3. Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells. (PMID: 19322909) Mitsuoka K. … Tamai I. (Biopharm Drug Dispos 2009) 3 22 64
  4. A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder. (PMID: 19335424) Zheng Y. … Jiang W. (Int. J. Dermatol. 2009) 3 22 64
  5. Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension. (PMID: 18671945) Seol S.Y. … Leem S.H. (Biochem. Biophys. Res. Commun. 2008) 3 46 64

Products for SLC6A19 Gene

Sources for SLC6A19 Gene

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