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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 brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017]
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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005328 | neurotransmitter:sodium symporter activity | IEA | -- |
GO:0015293 | symporter activity | IEA | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | NRF2 pathway |
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 | -- |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, autosomal recessive 48 |
|
|
tremor |
|
|
epileptic encephalopathy, early infantile, 3 |
|
|
hyperekplexia 3 |
|
|
dicarboxylic aminoaciduria |
|
|