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. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic b... See more...

Aliases for SLC6A17 Gene

Aliases for SLC6A17 Gene

  • Solute Carrier Family 6 Member 17 2 3 4 5
  • Sodium-Dependent Neutral Amino Acid Transporter SLC6A17 3 4
  • 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 Neurotransmitter Transporter NTT4 4
  • Solute Carrier Family 6, Member 17 2
  • SLC6A17 5
  • 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. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017]

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 and Tremor. Among its related pathways are NRF2 pathway. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity. An important paralog of this gene is SLC6A15.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SLC6A17 Gene

Genomics for SLC6A17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC6A17 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
GH01J110150 Promoter/Enhancer 1.1 Ensembl dbSUPER 600.7 +0.4 407 1.4 ZNF629 ZNF692 ZIC2 POLR2A PATZ1 EZH2 ZNF600 ZFX ZNF561 KLF9 SLC6A17 lnc-SLC6A17-1 SLC6A17-AS1 KCNC4
GH01J110152 Enhancer 0.8 FANTOM5 dbSUPER 608.8 +1.9 1945 0.2 SP2 ZNF184 BHLHE40 KLF17 RFX5 FOS GLIS2 SLC6A17 KCNA2 lnc-SLC6A17-1 SLC6A17-AS1 KCNC4
GH01J110192 Promoter 0.3 EPDnew 600.3 +42.0 42041 0.1 SLC6A17 ENSG00000235526 KCNC4 LINC02586
GH01J110130 Enhancer 0.5 FANTOM5 11.4 -20.2 -20228 0.3 CTCF TEAD4 RAD21 EZH2 HSALNG0005953 KCNA2 SLC6A17 AHCYL1 GSTM5 GSTM3 KCNC4 lnc-ALX3-5 UBL4B
GH01J110135 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 0.4 -13.8 -13793 2.6 RFX1 ZIC2 POLR2A ZBTB20 RAD21 BMI1 ESR1 USF1 ZBTB17 PKNOX1 UBL4B KCNA10 lnc-ALX3-5 HSALNG0005953 SLC6A17
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC6A17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC6A17

Top Transcription factor binding sites by QIAGEN in the SLC6A17 gene promoter:
  • En-1
  • GATA-1
  • GATA-2
  • GATA-3
  • GATA-6

Genomic Locations for SLC6A17 Gene

Genomic Locations for SLC6A17 Gene
chr1:110,150,494-110,202,202
(GRCh38/hg38)
Size:
51,709 bases
Orientation:
Plus strand
chr1:110,693,108-110,744,824
(GRCh37/hg19)
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

  • Glycosylation at Asn186 and Asn393
  • Modification sites at PhosphoSitePlus

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 :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC6A17 Gene

InterPro:
Blocks:
  • Orphan neurotransmitter transporter signature
ProtoNet:

Suggested Antigen Peptide Sequences for SLC6A17 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 6 member 17 (S6A17_HUMAN)

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).

Phenotypes From GWAS Catalog for SLC6A17 Gene

Gene Ontology (GO) - Molecular Function for SLC6A17 Gene

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

miRNA for SLC6A17 Gene

miRTarBase miRNAs that target SLC6A17

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A17

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. Cell junction, synapse, postsynapse. Cell junction, synapse, presynapse. 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 4
nucleus 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC6A17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IEA --
GO:0008021 synaptic vesicle IEA,ISS --
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

PathCards logo

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:0006810 transport IBA 21873635
GO:0006836 neurotransmitter transport IEA --
GO:0007420 brain development IEA,ISS --
GO:0015804 neutral amino acid transport IEA,ISS --
GO:0015816 glycine transport IEA,ISS --
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
  • Na(+)
  • Na+
  • 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

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A17

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

No ASD Table

Relevant External Links for SLC6A17 Gene

GeneLoc Exon Structure for
SLC6A17

Expression for SLC6A17 Gene

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



Protein tissue co-expression partners for SLC6A17 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC6A17

SOURCE GeneReport for Unigene cluster for SLC6A17 Gene:

Hs.128382

Evidence on tissue expression from TISSUES for SLC6A17 Gene

  • Nervous system(4.7)
  • Muscle(2.2)
  • Kidney(2)
  • Eye(2)

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
Regions:
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

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 30 31
  • 99.63 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A17 31
  • 94 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC6A17 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC6A17 30 31
  • 92.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC6A17 30 31
  • 92.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc6a17 30
  • 92.02 (n)
Mouse
(Mus musculus)
Mammalia Slc6a17 30 17 31
  • 91.8 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SLC6A17 30 31
  • 84.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC6A17 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc6a17 30
  • 71.95 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc6a17 30 31
  • 73.31 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG43066 30 31
  • 57.14 (n)
ManyToMany
CG10804 31
  • 37 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011279 30
  • 54.51 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
ManyToMany
CSA.3644 31
  • 46 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
Species where no ortholog for SLC6A17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC6A17: view image

Paralogs for SLC6A17 Gene

(21) SIMAP similar genes for SLC6A17 Gene using alignment to 2 proteins:

  • S6A17_HUMAN
  • L8E704_HUMAN
genes like me logo Genes that share paralogs with SLC6A17: view

Variants for SLC6A17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC6A17 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
713882 Benign: not provided 110,174,904(+) G/A MISSENSE_VARIANT
723416 Benign: not provided 110,167,225(+) A/G INTRON_VARIANT
724078 Likely Benign: not provided 110,198,405(+) C/T SYNONYMOUS_VARIANT
736353 Likely Benign: not provided 110,195,638(+) C/T SYNONYMOUS_VARIANT
738995 Likely Benign: not provided 110,192,136(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SLC6A17 Gene

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)

Additional Variant Information 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

(9) MalaCards diseases for SLC6A17 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for SLC6A17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (American journal of human genetics 2015) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Synaptic Vesicle Protein NTT4/XT1 (SLC6A17) Catalyzes Na+-coupled Neutral Amino Acid Transport. (PMID: 19147495) Zaia KA … Reimer RJ (The Journal of biological chemistry 2009) 3 23
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. The repertoire of solute carriers of family 6: identification of new human and rodent genes. (PMID: 16125675) Höglund PJ … Fredriksson R (Biochemical and biophysical research communications 2005) 3 4

Products for SLC6A17 Gene

Sources for SLC6A17 Gene