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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
External Ids for SLC6A17 Gene
- HGNC: 31399
- Entrez Gene: 388662
- Ensembl: ENSG00000197106
- OMIM: 610299
- UniProtKB: Q9H1V8
Previous GeneCards Identifiers for SLC6A17 Gene
- GC01P110009
- GC01P110428
- GC01P110494
- GC01P110693
- GC01P108564
Summaries 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).
Additional gene information for SLC6A17 Gene
- HGNC(31399)
- Entrez Gene(388662)
- Ensembl(ENSG00000197106)
- OMIM(610299)
- UniProtKB(Q9H1V8)
- Open Targets Platform(ENSG00000197106)
- Monarch Initiative
- Search for SLC6A17 at DataMed
- Search for SLC6A17 at HumanCyc
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:
-
- 1p13.3 by HGNC
- 1p13.3 by Entrez Gene
- 1p13.3 by Ensembl
SLC6A17 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 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
- A6NEA8
- A8K1R7
- B9EIR5
- Q5T5Q9
Protein attributes for SLC6A17 Gene
- Size:
- 727 amino acids
- Molecular mass:
- 81001 Da
- Quaternary structure:
- No Data Available
Protein Expression for SLC6A17 Gene
Post-translational modifications for SLC6A17 Gene
Other Protein References for SLC6A17 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ SLC6A17 Antibody
- Novus Biologicals Antibodies for SLC6A17
- Invitrogen Antibodies for SLC6A17 (AFLGC-SLC6A17)
-
Boster Bio Antibodies for SLC6A17
Protein Products
-
OriGene Purified Proteins for SLC6A17
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC6A17
- Origene Custom Protein Services for SLC6A17
- antibodies-online: Show 3 available SLC6A17 Proteins ranked by validation data
- Compare Top SLC6A17 Proteins
-
Quality Products:
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
Q9H1V8UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005328 | neurotransmitter:sodium symporter activity | IEA | -- |
| GO:0015293 | symporter activity | IEA | -- |
Phenotypes for SLC6A17 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for SLC6A17
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC6A17 - Select products 50% OFF >
- * SLC6A17 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC6A17
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC6A17
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC6A17
miRNA for SLC6A17 Gene
- miRTarBase miRNAs that target SLC6A17
-
- mmu-miR-149-5p (MIRT014684)
- hsa-miR-4286 (MIRT572972)
- hsa-miR-6793-3p (MIRT572973)
- hsa-miR-7151-5p (MIRT572974)
- hsa-miR-1273d (MIRT572975)
- mmu-miR-466o-3p (MIRT580888)
- mmu-miR-466m-3p (MIRT580889)
- mmu-miR-466f-3p (MIRT580890)
- mmu-miR-362-3p (MIRT580891)
- mmu-miR-466i-3p (MIRT580892)
- mmu-miR-329-3p (MIRT580893)
- mmu-miR-466l-5p (MIRT585828)
- mmu-miR-466k (MIRT585829)
- mmu-miR-466i-5p (MIRT585830)
- mmu-miR-466d-5p (MIRT585831)
- mmu-miR-466n-5p (MIRT585832)
- mmu-miR-466m-5p (MIRT585833)
- mmu-miR-466j (MIRT585834)
- mmu-miR-466h-5p (MIRT585835)
- mmu-miR-669m-5p (MIRT585836)
- mmu-miR-669h-5p (MIRT585837)
- mmu-miR-490-5p (MIRT585838)
- mmu-miR-194-5p (MIRT590989)
- hsa-miR-5096 (MIRT653450)
- hsa-miR-3180-5p (MIRT653451)
- hsa-miR-6720-5p (MIRT653452)
- hsa-miR-6512-3p (MIRT653453)
- hsa-miR-27b-3p (MIRT653454)
- hsa-miR-27a-3p (MIRT653455)
- hsa-miR-513a-5p (MIRT653456)
- hsa-miR-627-3p (MIRT653457)
- hsa-miR-4267 (MIRT653458)
- hsa-miR-3681-3p (MIRT653459)
- hsa-miR-216a-3p (MIRT653460)
- hsa-miR-128-3p (MIRT653461)
- hsa-miR-4433a-5p (MIRT653462)
- hsa-miR-1236-5p (MIRT736293)
- hsa-miR-1321 (MIRT737368)
- hsa-miR-185-5p (MIRT738266)
- hsa-miR-3689d (MIRT742494)
- hsa-miR-4270 (MIRT743599)
- hsa-miR-4306 (MIRT743923)
- hsa-miR-4419a (MIRT744206)
- hsa-miR-4441 (MIRT744566)
- hsa-miR-4510 (MIRT745646)
- hsa-miR-4644 (MIRT746395)
- hsa-miR-4697-3p (MIRT747223)
- hsa-miR-4739 (MIRT748085)
- hsa-miR-4756-5p (MIRT748457)
- hsa-miR-4765 (MIRT748597)
- hsa-miR-5095 (MIRT749700)
- hsa-miR-6127 (MIRT752120)
- hsa-miR-6129 (MIRT752193)
- hsa-miR-6130 (MIRT752281)
- hsa-miR-6133 (MIRT752385)
- hsa-miR-6731-5p (MIRT754039)
- hsa-miR-6754-5p (MIRT754741)
- hsa-miR-6758-5p (MIRT754890)
- hsa-miR-6760-5p (MIRT754945)
- hsa-miR-6799-5p (MIRT756337)
- hsa-miR-6851-5p (MIRT757618)
- hsa-miR-6856-5p (MIRT757737)
- hsa-miR-6873-5p (MIRT758084)
- hsa-miR-7151-3p (MIRT759183)
- hsa-miR-7854-3p (MIRT759937)
- hsa-miR-8085 (MIRT760243)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC6A17
- Browse OriGene Inhibitory RNA Products For SLC6A17
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A17
Clone Products
- Applied Biological Materials (abm): Clones for SLC6A17 - Select products 50% OFF >
- * SLC6A17 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC6A17
- Addgene plasmids for SLC6A17
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC6A17
Cell Line Products
-
Horizon Cell Lines 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}.
| 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 |
- Golgi apparatus (2)
- Nucleoli (2)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for SLC6A17 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | NRF2 pathway | ||
Pathways by source for SLC6A17 Gene
1 BioSystems pathway for SLC6A17 Gene
Interacting Proteins for SLC6A17 Gene
Selected Interacting proteins:
Q9H1V8-S6A17_HUMAN
ENSP00000330199
for SLC6A17 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SLC6A17
| 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 | -- |
No data available for SIGNOR curated interactions for SLC6A17 Gene
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 :
-
- ENST00000331565 6419 nts (view in UCSC)
- ENST00000465159 541 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC6A17 - Select products 50% OFF >
- * SLC6A17 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC6A17
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC6A17
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC6A17
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC6A17
- Browse OriGene Inhibitory RNA Products For SLC6A17
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A17
Clone Products
- Applied Biological Materials (abm): Clones for SLC6A17 - Select products 50% OFF >
- * SLC6A17 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC6A17
- Addgene plasmids for SLC6A17
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC6A17
Relevant External Links for SLC6A17 Gene
- GeneLoc Exon Structure for
- SLC6A17
Expression for SLC6A17 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Peripheral Nervous System (Nervous System)
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).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC6A17
SOURCE GeneReport for Unigene cluster for SLC6A17 Gene:
Hs.128382Evidence 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
Primer Products
-
OriGene qPCR primer pairs for SLC6A17
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC6A17 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC6A17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SLC6A17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC6A17 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC6A17 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc6a17 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Slc6a17 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC6A17 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC6A17 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc6a17 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc6a17 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG43066 30 31 |
|
ManyToMany | |
| CG10804 31 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011279 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| CSA.3644 31 |
|
ManyToMany | |||
| -- 31 |
|
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
Paralogs for SLC6A17 Gene
(21) SIMAP similar genes for SLC6A17 Gene using alignment to 2 proteins:
- S6A17_HUMAN
- L8E704_HUMAN
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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A17 Gene
Disorders for SLC6A17 Gene
(9) MalaCards diseases for SLC6A17 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal recessive 48 |
|
|
| tremor |
|
|
| epileptic encephalopathy, early infantile, 3 |
|
|
| hyperekplexia 3 |
|
|
| dicarboxylic aminoaciduria |
|
|
Search SLC6A17 in MalaCards
View complete list of genes associated with diseases
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)
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No data available for Genatlas for SLC6A17 Gene
Publications for SLC6A17 Gene
- 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
- 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
- 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
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
- 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
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Products for SLC6A17 Gene
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- Taconic Biosciences Mouse Models for SLC6A17
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- antibodies-online: Show 12 available SLC6A17 Antibodies ranked by validation data
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- antibodies-online: Show 3 available SLC6A17 Proteins ranked by validation data
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- Boster Bio Antibodies for SLC6A17
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Sources for SLC6A17 Gene
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