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
External Ids for SLC6A19 Gene
- HGNC: 27960
- Entrez Gene: 340024
- Ensembl: ENSG00000174358
- OMIM: 608893
- UniProtKB: Q695T7
Previous GeneCards Identifiers for SLC6A19 Gene
- GC05P001256
- GC05P001257
Summaries 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 Iminoglycinuria. 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 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.
Additional gene information for SLC6A19 Gene
- Monarch Initiative
- Search for SLC6A19 at DataMed
- Search for SLC6A19 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A19 Gene
Genomics for SLC6A19 Gene
GeneHancer (GH) Regulatory Elements for SLC6A19 Gene
Promoters and enhancers for SLC6A19 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SLC6A19 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SLC6A19 gene promoter:
Regulatory Element Products
Genomic Locations for SLC6A19 Gene
Genomic Locations for SLC6A19 Gene
- chr5:1,201,595-1,225,117
- (GRCh38/hg38)
- Size:
- 23,523 bases
- Orientation:
- Plus strand
- chr5:1,201,710-1,225,232
- (GRCh37/hg19)
Genomic View for SLC6A19 Gene
Genes around SLC6A19 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5p15.33 by Ensembl
- 5p15.33 by Entrez Gene
- 5p15.33 by HGNC
SLC6A19 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 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
- A8K446
Protein attributes for SLC6A19 Gene
- Size:
- 634 amino acids
- Molecular mass:
- 71110 Da
- Quaternary structure:
- No Data Available
Protein Expression for SLC6A19 Gene
Post-translational modifications for SLC6A19 Gene
Other Protein References for SLC6A19 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SLC6A19
- Novus Biologicals Antibodies for SLC6A19
-
Abcam antibodies for SLC6A19
- Invitrogen Antibodies for SLC6A19
- Search GeneTex for Antibodies for SLC6A19
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC6A19
Protein Products
-
OriGene Purified Proteins for SLC6A19
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC6A19
- Origene Custom Protein Services for SLC6A19
- Novus Biologicals proteins for SLC6A19
- antibodies-online: Search results for 4 available SLC6A19 Proteins ranked by validation data
- Compare Top SLC6A19 Proteins
-
Quality Products:
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-
Abcam proteins for SLC6A19
Assay Products
-
Cloud-Clone Corp. Assay Kits for SLC6A19
- antibodies-online: Search results for 1 available SLC6A19 Elisa Kits ranked by validation data
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-
Quality Products:
No data available for DME Specific Peptides for SLC6A19 Gene
Domains & Families for SLC6A19 Gene
Gene Families for SLC6A19 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for SLC6A19 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC6A19 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q695T7UniProtKB/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.
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.
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for SLC6A19 Gene
- MGI mutant phenotypes for SLC6A19:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SLC6A19:
Animal Models for SLC6A19 Gene
- MGI Knock Outs for SLC6A19:
-
- Slc6a19 tm1Dgen
Animal Model Products
-
Taconic Biosciences Mouse Models for SLC6A19
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC6A19 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC6A19 gene
- Search ViGene Biosciences for SLC6A19
CRISPR Products
-
OriGene CRISPR knockouts for SLC6A19
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- Overview of 99 available SLC6A19 gene related products
- Applied Biological Materials CRISPR for SLC6A19
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC6A19
- GenScript: Design CRISPR guide RNA sequences for SLC6A19
miRNA for SLC6A19 Gene
- miRTarBase miRNAs that target SLC6A19
miRNA Products
- Search ViGene Biosciences for SLC6A19
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SLC6A19
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- genomics-online: shRNA clones - Search results for 99 available SLC6A19 gene related products
- Overview of 99 available SLC6A19 gene related products
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Clone Products
- Sino Biological Human cDNA Clone for SLC6A19
- VectorBuilder custom plasmid, inducible vectors for SLC6A19
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC6A19
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SLC6A19
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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Horizon Cell Lines for SLC6A19
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ViGene Biosciences adenoviral particle packaged cDNA for SLC6A19 gene
-
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-
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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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
- Nucleoli (2)
| 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 | -- |
Pathways & Interactions for SLC6A19 Gene
Pathways by source for SLC6A19 Gene
1 BioSystems pathway for SLC6A19 Gene
6 Reactome pathways for SLC6A19 Gene
2 KEGG pathways for SLC6A19 Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for SLC6A19 Gene
Transcripts for SLC6A19 Gene
mRNA/cDNA for SLC6A19 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (67) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLC6A19 Gene
- Solute carrier family 6 (neutral amino acid transporter), member 19:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SLC6A19
- genomics-online: gRNA clones - Search results for 99 available SLC6A19 gene related products
- Overview of 99 available SLC6A19 gene related products
- Applied Biological Materials CRISPR for SLC6A19
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC6A19
- GenScript: Design CRISPR guide RNA sequences for SLC6A19
miRNA Products
- Search ViGene Biosciences for SLC6A19
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SLC6A19
- Browse OriGene Inhibitory RNA Products For SLC6A19
- genomics-online: shRNA clones - Search results for 99 available SLC6A19 gene related products
- Overview of 99 available SLC6A19 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC6A19 gene
Clone Products
- Sino Biological Human cDNA Clone for SLC6A19
- VectorBuilder custom plasmid, inducible vectors for SLC6A19
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC6A19
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SLC6A19
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||
| SP2: | - |
Expression for SLC6A19 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Loop of Henle Cells Loop of Henle
- Proximal Tubule Cells Proximal Tubule
- Loop of Henle
- Proximal Tubule
- Epithelial Tubule
-
Epithelial Cells
- Loop of Henle Cells Loop of Henle
- Proximal Tubule Cells Proximal Tubule
- Intestine (Gastrointestinal Tract)
- NULL (Uncategorized)
-
Epidermis (Integumentary System)
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SLC6A19 Gene:
SLC6A19SOURCE GeneReport for Unigene cluster for SLC6A19 Gene:
Hs.481478mRNA 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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for SLC6A19
- genomics-online: primer clones - Search results for 99 available SLC6A19 gene related products
- Overview of 99 available SLC6A19 gene related products
Gene Expression Assay Products
Orthologs for SLC6A19 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLC6A19 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SLC6A19 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SLC6A19 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc6a19 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Slc6a19 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SLC6A19 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SLC6A19 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC6A19 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SLC6A19 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc6a19 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | slc6a19a 34 |
|
OneToMany | |
| slc6a19b 33 34 |
|
||||
| CU856173.1 34 |
|
OneToMany | |||
| wufd58f10 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG10804 34 |
|
ManyToMany | |
| CG43066 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for SLC6A19 Gene
(21) SIMAP similar genes for SLC6A19 Gene using alignment to 3 proteins:
Variants for SLC6A19 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs121434346 | pathogenic, conflicting-interpretations-of-pathogenicity, Neutral 1 amino acid transport defect, not provided, Hartnup disorder (HND) [MIM:234500] | 1,212,338(+) | G/A | coding_sequence_variant, missense_variant | |
| rs121434347 | pathogenic, Neutral 1 amino acid transport defect | 1,213,517(+) | C/T | coding_sequence_variant, stop_gained | |
| rs200745023 | Hartnup disorder (HND) [MIM:234500] | 1,213,524(+) | T/C | coding_sequence_variant, missense_variant | |
| rs369804798 | likely-pathogenic, uncertain-significance, not provided | 1,216,611(+) | C/A/T | coding_sequence_variant, missense_variant, stop_gained | |
| rs762989809 | Hartnup disorder (HND) [MIM:234500] | 1,201,819(+) | C/A/T | coding_sequence_variant, missense_variant |
| 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 |
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)
Additional Variant Information for SLC6A19 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A19 Gene
Disorders for SLC6A19 Gene
(5) MalaCards diseases for SLC6A19 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hartnup disorder |
|
|
| iminoglycinuria |
|
|
| hyperglycinuria |
|
|
| aminoaciduria |
|
|
| pellagra |
|
|
Search SLC6A19 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for SLC6A19
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SLC6A19 Gene
Publications for SLC6A19 Gene
- Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. (PMID: 15286788) Seow HF … Rasko JE (Nature genetics 2004) 3 4 22 58
- Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. (PMID: 20399395) Cheon CK … Yoo HW (Pediatric neurology 2010) 3 22 58
- Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells. (PMID: 19322909) Mitsuoka K … Tamai I (Biopharmaceutics & drug disposition 2009) 3 22 58
- A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder. (PMID: 19335424) Zheng Y … Jiang W (International journal of dermatology 2009) 3 22 58
- Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension. (PMID: 18671945) Seol SY … Leem SH (Biochemical and biophysical research communications 2008) 3 44 58
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- GenScript: Design CRISPR guide RNA sequences for SLC6A19
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- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
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- Sino Biological Human cDNA Clone for SLC6A19
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- Novus Biologicals Antibodies for SLC6A19
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- Novus Biologicals Tissue Microarrays
- Browse Antibodies
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- Abcam antibodies for SLC6A19
- Abcam proteins for SLC6A19
- Find your target
- Browse Primary Antibodies
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- Search Knockout (KO) Validated Antibodies
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- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Cloud-Clone Corp. Assay Kits for SLC6A19
- Browse Knockouts at Cloud-Clone Corp.
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- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Taconic Biosciences Mouse Models for SLC6A19
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for SLC6A19
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLC6A19
- VectorBuilder custom plasmid, inducible vectors for SLC6A19
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC6A19
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 8 available SLC6A19 Antibodies ranked by validation data
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- antibodies-online: Search results for 1 available SLC6A19 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 4 available SLC6A19 Proteins ranked by validation data
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- Search GeneTex for Antibodies for SLC6A19
- Search GeneTex for Proteins for SLC6A19
- ViGene Biosciences adenoviral particle packaged cDNA for SLC6A19 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SLC6A19 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SLC6A19 gene
- Search ViGene Biosciences for SLC6A19
- Santa Cruz Biotechnology (SCBT) Antibodies for SLC6A19
- Search Santa Cruz Biotechnology (SCBT) for SLC6A19 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SLC6A19
- Horizon Cell Lines for SLC6A19
- genomics-online: cdna clones - Search results for 99 available SLC6A19 gene related products
- Overview of 99 available SLC6A19 gene related products
- orf clones - Search results for 99 available SLC6A19 gene related products
- Overview of 99 available SLC6A19 gene related products
- genomics-online: gRNA clones - Search results for 99 available SLC6A19 gene related products
- Overview of 99 available SLC6A19 gene related products
- genomics-online: primer clones - Search results for 99 available SLC6A19 gene related products
- Overview of 99 available SLC6A19 gene related products
- genomics-online: shRNA clones - Search results for 99 available SLC6A19 gene related products
- Overview of 99 available SLC6A19 gene related products
Sources for SLC6A19 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems