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Aliases for SLC6A17 Gene

Aliases for SLC6A17 Gene

  • Solute Carrier Family 6 Member 17 2 3 4 5
  • NTT4 3 4
  • Orphan Sodium- And Chloride-Dependent Neurotransmitter Transporter NTT4 3
  • Solute Carrier Family 6 (Neutral Amino Acid Transporter), Member 17 2
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 17 2
  • Sodium-Dependent Neutral Amino Acid Transporter SLC6A17 3
  • Sodium-Dependent Neurotransmitter Transporter NTT4 4
  • Solute Carrier Family 6, Member 17 2
  • MRT48 3

External Ids for SLC6A17 Gene

Previous GeneCards Identifiers for SLC6A17 Gene

  • GC01P110009
  • GC01P110428
  • GC01P110494
  • GC01P110693
  • GC01P108564

Summaries for SLC6A17 Gene

Entrez Gene Summary for SLC6A17 Gene

  • The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. Defects in this gene are a cause of autosomal recessive mental retardation-48. [provided by RefSeq, Oct 2016]

GeneCards Summary for SLC6A17 Gene

SLC6A17 (Solute Carrier Family 6 Member 17) is a Protein Coding gene. Diseases associated with SLC6A17 include Mental Retardation, Autosomal Recessive 48. Among its related pathways are NRF2 pathway. GO annotations related to this gene include neurotransmitter:sodium symporter activity. An important paralog of this gene is SLC6A15.

UniProtKB/Swiss-Prot for SLC6A17 Gene

  • Functions as a sodium-dependent vesicular transporter selective for proline, glycine, leucine and alanine. In contrast to other members of this neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A17 Gene

Genomics for SLC6A17 Gene

Regulatory Elements for SLC6A17 Gene

Enhancers for SLC6A17 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
GH01G110152 0.9 FANTOM5 dbSUPER 8.9 +2.0 1954 0.2 GLIS2 BHLHE40 SP2 KLF17 FOS SLC6A17 KCNA2 GC01P110163
GH01G110130 0.7 FANTOM5 11.4 -20.2 -20220 0.3 CTCF RNF2 SCRT2 TEAD4 RAD21 PRDM1 KDM6A EZH2 KCNA2 SLC6A17 AHCYL1 GSTM5 GSTM3 KCNC4 UBL4B
GH01G110136 0.7 ENCODE 0.4 -13.4 -13413 0.2 MXI1 PKNOX1 RFX1 USF1 MAX USF2 BMI1 EP300 RAD51 PBX2 UBL4B KCNA10 SLC6A17
GH01G110116 0.8 ENCODE 0.3 -33.3 -33264 1.7 CTCF ZNF146 MAX ZBTB40 RAD21 CTBP1 ZNF143 SMC3 NR2F6 RCOR1 UBL4B SLC6A17
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC6A17 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC6A17 Gene

Chromosome:
1
Start:
110,150,486 bp from pter
End:
110,202,202 bp from pter
Size:
51,717 bases
Orientation:
Plus strand

Genomic View for SLC6A17 Gene

Genes around SLC6A17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A17 Gene

Proteins for SLC6A17 Gene

  • Protein details for SLC6A17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1V8-S6A17_HUMAN
    Recommended name:
    Sodium-dependent neutral amino acid transporter SLC6A17
    Protein Accession:
    Q9H1V8
    Secondary Accessions:
    • A6NEA8
    • A8K1R7
    • B9EIR5
    • Q5T5Q9

    Protein attributes for SLC6A17 Gene

    Size:
    727 amino acids
    Molecular mass:
    81001 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC6A17 Gene

Post-translational modifications for SLC6A17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC6A17 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC6A17 Gene

Domains & Families for SLC6A17 Gene

Gene Families for SLC6A17 Gene

HGNC:
IUPHAR :

Protein Domains for SLC6A17 Gene

Suggested Antigen Peptide Sequences for SLC6A17 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H1V8

UniProtKB/Swiss-Prot:

S6A17_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A17 subfamily.
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A17 subfamily.
genes like me logo Genes that share domains with SLC6A17: view

Function for SLC6A17 Gene

Molecular function for SLC6A17 Gene

UniProtKB/Swiss-Prot Function:
Functions as a sodium-dependent vesicular transporter selective for proline, glycine, leucine and alanine. In contrast to other members of this neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity).

Gene Ontology (GO) - Molecular Function for SLC6A17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0015171 amino acid transmembrane transporter activity IBA --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC6A17: view

Phenotypes for SLC6A17 Gene

genes like me logo Genes that share phenotypes with SLC6A17: view

Human Phenotype Ontology for SLC6A17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC6A17

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC6A17 Gene

Localization for SLC6A17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A17 Gene

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane protein. Note=Localizes at synaptic junctions - at both pre- and post-synaptic sites - particularly in excitatory glutamatergic terminals. {ECO:0000250 UniProtKB:Q8BJI1}.

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 SLC6A17 gene
Compartment Confidence
plasma membrane 5
nucleus 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC6A17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
GO:0008021 synaptic vesicle ISS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SLC6A17: view

Pathways & Interactions for SLC6A17 Gene

SuperPathways for SLC6A17 Gene

SuperPathway Contained pathways
1 NRF2 pathway
genes like me logo Genes that share pathways with SLC6A17: view

Pathways by source for SLC6A17 Gene

1 BioSystems pathway for SLC6A17 Gene

Gene Ontology (GO) - Biological Process for SLC6A17 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:0007420 brain development ISS,IEA --
GO:0015804 neutral amino acid transport ISS,IEA --
genes like me logo Genes that share ontologies with SLC6A17: view

No data available for SIGNOR curated interactions for SLC6A17 Gene

Drugs & Compounds for SLC6A17 Gene

(1) Additional Compounds for SLC6A17 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC6A17: view

Transcripts for SLC6A17 Gene

mRNA/cDNA for SLC6A17 Gene

Unigene Clusters for SLC6A17 Gene

Solute carrier family 6, member 17:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A17 Gene

No ASD Table

Relevant External Links for SLC6A17 Gene

GeneLoc Exon Structure for
SLC6A17
ECgene alternative splicing isoforms for
SLC6A17

Expression for SLC6A17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC6A17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A17 Gene

This gene is overexpressed in Brain - Cortex (x8.4), Brain - Frontal Cortex (BA9) (x7.6), Brain - Anterior cingulate cortex (BA24) (x6.9), and Brain - Cerebellum (x4.1).

Protein differential expression in normal tissues from HIPED for SLC6A17 Gene

This gene is overexpressed in Frontal cortex (22.2), Plasma (15.5), Brain (15.1), and Urine (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC6A17 Gene



Protein tissue co-expression partners for SLC6A17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC6A17 Gene:

SLC6A17

SOURCE GeneReport for Unigene cluster for SLC6A17 Gene:

Hs.128382

Evidence on tissue expression from TISSUES for SLC6A17 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A17 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with SLC6A17: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SLC6A17 Gene

Orthologs for SLC6A17 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A17 34 35
  • 99.63 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC6A17 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A17 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A17 34 35
  • 92.76 (n)
cow
(Bos Taurus)
Mammalia SLC6A17 34 35
  • 92.62 (n)
rat
(Rattus norvegicus)
Mammalia Slc6a17 34
  • 92.02 (n)
mouse
(Mus musculus)
Mammalia Slc6a17 34 16 35
  • 91.8 (n)
chicken
(Gallus gallus)
Aves SLC6A17 34 35
  • 84.23 (n)
lizard
(Anolis carolinensis)
Reptilia SLC6A17 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a17 34
  • 71.95 (n)
zebrafish
(Danio rerio)
Actinopterygii slc6a17 34 35
  • 73.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43066 34 35
  • 57.14 (n)
CG10804 35
  • 37 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011279 34
  • 54.51 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
ManyToMany
CSA.3644 35
  • 46 (a)
ManyToMany
-- 35
  • 39 (a)
ManyToMany
Species where no ortholog for SLC6A17 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)
  • 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 SLC6A17 Gene

ENSEMBL:
Gene Tree for SLC6A17 (if available)
TreeFam:
Gene Tree for SLC6A17 (if available)

Paralogs for SLC6A17 Gene

Paralogs for SLC6A17 Gene

genes like me logo Genes that share paralogs with SLC6A17: view

Variants for SLC6A17 Gene

Sequence variations from dbSNP and Humsavar for SLC6A17 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs375380880 Pathogenic, Mental retardation, autosomal recessive 48 (MRT48) [MIM:616269] 110,198,158(+) CATCC(C/G/T)TGTGG reference, missense
rs775085213 Pathogenic, Mental retardation, autosomal recessive 48 (MRT48) [MIM:616269] 110,174,012(+) TCATC(A/G)GGTGG reference, missense
rs796052160 Likely benign 110,198,281(+) GACCC(A/G)CTTCA reference, missense
rs1000050281 -- 110,191,488(+) CATGA(C/G)GTAGA intron-variant
rs1000091998 -- 110,200,775(+) TCGGG(-/GT)GTGTG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC6A17 Gene

Variant ID Type Subtype PubMed ID
nsv2354 CNV insertion 18451855
nsv2365 CNV deletion 18451855

Variation tolerance for SLC6A17 Gene

Residual Variation Intolerance Score: 5.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.23; 81.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC6A17 Gene

Human Gene Mutation Database (HGMD)
SLC6A17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A17 Gene

Disorders for SLC6A17 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC6A17 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 48
  • progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S6A17_HUMAN
  • Mental retardation, autosomal recessive 48 (MRT48) [MIM:616269]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems. {ECO:0000269 PubMed:25704603}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC6A17

Genetic Association Database (GAD)
SLC6A17
Human Genome Epidemiology (HuGE) Navigator
SLC6A17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC6A17
genes like me logo Genes that share disorders with SLC6A17: view

No data available for Genatlas for SLC6A17 Gene

Publications for SLC6A17 Gene

  1. Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. (PMID: 25704603) Iqbal Z. … van Bokhoven H. (Am. J. Hum. Genet. 2015) 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Synaptic Vesicle Protein NTT4/XT1 (SLC6A17) Catalyzes Na+-coupled Neutral Amino Acid Transport. (PMID: 19147495) Zaia K.A. … Reimer R.J. (J. Biol. Chem. 2009) 3 22 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. The repertoire of solute carriers of family 6: identification of new human and rodent genes. (PMID: 16125675) Hoglund P.J. … Fredriksson R. (Biochem. Biophys. Res. Commun. 2005) 3 4 64

Products for SLC6A17 Gene

Sources for SLC6A17 Gene

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