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Aliases for SLC6A20 Gene

Aliases for SLC6A20 Gene

  • Solute Carrier Family 6 (Proline IMINO Transporter), Member 20 2 3
  • XT3 3 4 6
  • Sodium/Imino-Acid Transporter 1 3 4
  • Transporter RB21A Homolog 3 4
  • Xtrp3 3 4
  • SIT1 3 4
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 20 3
  • Sodium- And Chloride-Dependent Transporter XTRP3 3
  • Neurotransmitter Transporter RB21A 3
  • Solute Carrier Family 6 Member 20 4
  • X Transporter Protein 3 3
  • Orphan Transporter XT3 3

External Ids for SLC6A20 Gene

Previous GeneCards Identifiers for SLC6A20 Gene

  • GC03M045758
  • GC03M045771

Summaries for SLC6A20 Gene

Entrez Gene Summary for SLC6A20 Gene

  • Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC6A20 Gene

SLC6A20 (Solute Carrier Family 6 (Proline IMINO Transporter), Member 20) is a Protein Coding gene. Diseases associated with SLC6A20 include slc6a20-related hyperglycinuria and hyperglycinuria. Among its related pathways are TCR Signaling (Qiagen) and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include neurotransmitter:sodium symporter activity and amino acid transmembrane transporter activity. An important paralog of this gene is SLC6A18.

UniProtKB/Swiss-Prot for SLC6A20 Gene

  • Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids. Involved in the transport of glycine.

Gene Wiki entry for SLC6A20 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A20 Gene

Genomics for SLC6A20 Gene

Regulatory Elements for SLC6A20 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC6A20 Gene

Start:
45,755,449 bp from pter
End:
45,796,547 bp from pter
Size:
41,099 bases
Orientation:
Minus strand

Genomic View for SLC6A20 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC6A20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A20 Gene

Proteins for SLC6A20 Gene

  • Protein details for SLC6A20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP91-S6A20_HUMAN
    Recommended name:
    Sodium- and chloride-dependent transporter XTRP3
    Protein Accession:
    Q9NP91
    Secondary Accessions:
    • A1A4F2
    • O75590
    • Q8TF10
    • Q9NPQ2
    • Q9NQ77

    Protein attributes for SLC6A20 Gene

    Size:
    592 amino acids
    Molecular mass:
    65914 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAL75944.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC6A20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC6A20 Gene

Proteomics data for SLC6A20 Gene at MOPED

Post-translational modifications for SLC6A20 Gene

  • Glycosylation at Asn131 and Asn357
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A20 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC6A20 Gene

Domains for SLC6A20 Gene

Gene Families for SLC6A20 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC6A20 Gene

Suggested Antigen Peptide Sequences for SLC6A20 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NP91

UniProtKB/Swiss-Prot:

S6A20_HUMAN :
  • Q9NP91
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A20 subfamily.
genes like me logo Genes that share domains with SLC6A20: view

Function for SLC6A20 Gene

Molecular function for SLC6A20 Gene

UniProtKB/Swiss-Prot Function: Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids. Involved in the transport of glycine.

Gene Ontology (GO) - Molecular Function for SLC6A20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0015171 amino acid transmembrane transporter activity IDA 15632147
genes like me logo Genes that share ontologies with SLC6A20: view

Phenotypes for SLC6A20 Gene

genes like me logo Genes that share phenotypes with SLC6A20: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC6A20 Gene

Localization for SLC6A20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A20 Gene

Apical cell membrane; Multi-pass membrane protein. Note=Located in the apical brush border membrane of kidney proximal tubule cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC6A20 Gene COMPARTMENTS Subcellular localization image for SLC6A20 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC6A20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016021 integral component of membrane --
GO:0016324 apical plasma membrane ISS --
genes like me logo Genes that share ontologies with SLC6A20: view

Pathways for SLC6A20 Gene

genes like me logo Genes that share pathways with SLC6A20: view

Gene Ontology (GO) - Biological Process for SLC6A20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IDA 15632147
GO:0006811 ion transport TAS --
GO:0006836 neurotransmitter transport IEA --
GO:0006865 amino acid transport TAS --
GO:0015816 glycine transport IMP 19033659
genes like me logo Genes that share ontologies with SLC6A20: view

Compounds for SLC6A20 Gene

(2) HMDB Compounds for SLC6A20 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Sodium
  • Sodium
7440-23-5
genes like me logo Genes that share compounds with SLC6A20: view

Transcripts for SLC6A20 Gene

Unigene Clusters for SLC6A20 Gene

Solute carrier family 6 (proline IMINO transporter), member 20:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC6A20

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SLC6A20

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A20 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - -
SP2:
SP3:

Relevant External Links for SLC6A20 Gene

GeneLoc Exon Structure for
SLC6A20
ECgene alternative splicing isoforms for
SLC6A20

Expression for SLC6A20 Gene

mRNA expression in normal human tissues for SLC6A20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A20 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (11.9), Nerve - Tibial (9.0), and Pancreas (4.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC6A20 Gene

SOURCE GeneReport for Unigene cluster for SLC6A20 Gene Hs.413095

mRNA Expression by UniProt/SwissProt for SLC6A20 Gene

Q9NP91-S6A20_HUMAN
Tissue specificity: Kidney and small intestine. Expressed in the S3 segment of the proximal tubule.
genes like me logo Genes that share expressions with SLC6A20: view

In Situ Assay Products

Orthologs for SLC6A20 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A20 35
  • 98.43 (n)
  • 98.03 (a)
SLC6A20 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC6A20 35
  • 89.13 (n)
  • 90.37 (a)
SLC6A20 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A20 35
  • 89.54 (n)
  • 90.53 (a)
SLC6A20 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a20a 35
  • 87.84 (n)
  • 92.06 (a)
Slc6a20a 16
Slc6a20a 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A20 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A20 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a20 35
  • 87.67 (n)
  • 90.88 (a)
chicken
(Gallus gallus)
Aves SLC6A20 35
  • 78.66 (n)
  • 83.28 (a)
SLC6A20 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC6A20 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497079 35
  • 67.35 (n)
  • 74.74 (a)
zebrafish
(Danio rerio)
Actinopterygii SLC6A20 36
  • 33 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta ine 36
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea snf-10 36
  • 16 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
-- 36
  • 30 (a)
OneToMany
Species with no ortholog for SLC6A20:
  • 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)

Evolution for SLC6A20 Gene

ENSEMBL:
Gene Tree for SLC6A20 (if available)
TreeFam:
Gene Tree for SLC6A20 (if available)

Paralogs for SLC6A20 Gene

Paralogs for SLC6A20 Gene

Pseudogenes.org Pseudogenes for SLC6A20 Gene

genes like me logo Genes that share paralogs with SLC6A20: view

Variants for SLC6A20 Gene

Sequence variations from dbSNP and Humsavar for SLC6A20 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs720625 -- 45,768,602(+) TAACA(A/G)GCATG intron-variant
rs720626 -- 45,768,646(+) TTGTC(C/T)CACCC intron-variant
rs758386 -- 45,775,926(-) GAGTG(C/T)GAGAA synonymous-codon, reference
rs758387 -- 45,771,533(-) TGGGC(C/T)ACTCT intron-variant
rs758388 -- 45,770,612(-) ACTTC(C/T)GCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A20 Gene

Variant ID Type Subtype PubMed ID
nsv876734 CNV Gain 21882294
nsv876735 CNV Loss 21882294
nsv834678 CNV Gain 17160897
esv2670527 CNV Deletion 23128226
esv267840 CNV Insertion 20981092
esv2725225 CNV Deletion 23290073
esv2192183 CNV Deletion 18987734
esv2725226 CNV Deletion 23290073
esv1614687 CNV Deletion 17803354

Relevant External Links for SLC6A20 Gene

HapMap Linkage Disequilibrium report
SLC6A20
Human Gene Mutation Database (HGMD)
SLC6A20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A20 Gene

Disorders for SLC6A20 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for SLC6A20 Gene including...

Search for SLC6A20 Gene in MalaCards »

(2) OMIM Diseases for SLC6A20 Gene (605616)

UniProtKB/Swiss-Prot

S6A20_HUMAN
  • 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 is caused by mutations affecting the gene represented in this entry.
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Haploinsufficiency of SLC6A20 combined with deficiency of the neutral amino acid transporter SLC6A19 or partially inactivating mutations in SLC36A2, is responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.

(1) University of Copenhagen DISEASES for SLC6A20 Gene

Relevant External Links for SLC6A20

Genetic Association Database (GAD)
SLC6A20
genes like me logo Genes that share disorders with SLC6A20: view

Publications for SLC6A20 Gene

  1. The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3. (PMID: 11352561) Kiss H. … Dumanski J.P. (Genomics 2001) 2 3 4
  2. Cloning, gene structure, and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms. (PMID: 9932288) Nash S.R. … Caron M.G. (Recept. Channels 1998) 2 3 4
  3. Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino. (PMID: 15632147) Takanaga H. … Hediger M.A. (J. Biol. Chem. 2005) 3 4 23
  4. Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20). (PMID: 19657969) BrAPer A. … BrAPer S. (Mol. Membr. Biol. 2009) 3 23
  5. A genome-wide association study of metabolic traits in human urine. (PMID: 21572414) Suhre K. … Nauck M. (Nat. Genet. 2011) 3 48

Products for SLC6A20 Gene

Sources for SLC6A20 Gene

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