Q8BJI1
PR
Gene name |
Slc6a17 (Ntt4) |
Protein name |
Sodium-dependent neutral amino acid transporter SLC6A17 |
Names |
Sodium-dependent neurotransmitter transporter NTT4, Solute carrier family 6 member 17 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:229706 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8BJI1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8BJI1-F1 | Predicted | AlphaFoldDB |
35 variants for Q8BJI1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3388657032 | 10 | R>G | No | EVA | |
| rs3388652405 | 28 | E>D | No | EVA | |
| rs3388637643 | 36 | S>R | No | EVA | |
| rs3388652408 | 44 | T>I | No | EVA | |
| rs3388637706 | 51 | A>E | No | EVA | |
| rs3388652964 | 65 | S>R | No | EVA | |
| rs3388657039 | 119 | A>D | No | EVA | |
| rs3388656004 | 144 | F>Y | No | EVA | |
| rs3388645191 | 180 | E>D | No | EVA | |
| rs3411747083 | 198 | K>M | No | EVA | |
| rs3388645096 | 203 | T>I | No | EVA | |
| rs3388660167 | 208 | R>G | No | EVA | |
| rs3393565925 | 240 | M>T | No | EVA | |
| rs3388645165 | 259 | F>I | No | EVA | |
| rs3388655252 | 279 | D>E | No | EVA | |
| rs3388653935 | 321 | S>R | No | EVA | |
| rs3388637677 | 333 | A>S | No | EVA | |
| rs3388657028 | 382 | V>I | No | EVA | |
| rs3388645750 | 401 | D>E | No | EVA | |
| rs3388649951 | 417 | F>Y | No | EVA | |
| rs3388660232 | 430 | E>Q | No | EVA | |
| rs3388659312 | 430 | E>V | No | EVA | |
| rs3388655301 | 491 | V>L | No | EVA | |
| rs3388649996 | 516 | G>* | No | EVA | |
| rs3393233229 | 530 | L>P | No | EVA | |
| rs3388661010 | 596 | P>L | No | EVA | |
| rs3388660143 | 597 | G>V | No | EVA | |
| rs3388660197 | 663 | D>E | No | EVA | |
| rs3388645725 | 683 | E>G | No | EVA | |
| rs3388657627 | 691 | H>N | No | EVA | |
| rs3388653890 | 691 | H>R | No | EVA | |
| rs6260343 | 704 | D>E | No | EVA | |
| rs3388657913 | 716 | G>S | No | EVA | |
| rs3393490006 | 725 | S>* | No | EVA | |
| rs3393565949 | 728 | L>W | No | EVA |
1 associated diseases with Q8BJI1
[MIM: 616269]: Intellectual developmental disorder, autosomal recessive 48 (MRT48)
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 variants affecting the gene represented in this entry.
Without disease ID
- 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 variants affecting the gene represented in this entry.
No regional properties for Q8BJI1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8BJI1 | |||
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| GABA-ergic synapse | A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of synaptic vesicle membrane | The component of the synaptic vesicle membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intrinsic component of membrane | The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. |
| postsynapse | The part of a synapse that is part of the post-synaptic cell. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| symporter activity | Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| alanine transport | The directed movement of alanine, 2-aminopropanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| glycine transport | The directed movement of glycine, aminoethanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| leucine transport | The directed movement of leucine, 2-amino-4-methylpentanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| neurotransmitter transport | The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| neutral amino acid transport | The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| proline transport | The directed movement of proline, pyrrolidine-2-carboxylic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P51143 | SLC6A2 | Sodium-dependent noradrenaline transporter | Bos taurus (Bovine) | PR |
| Q9XS59 | SLC6A15 | Sodium-dependent neutral amino acid transporter B(0)AT2 | Bos taurus (Bovine) | PR |
| P23975 | SLC6A2 | Sodium-dependent noradrenaline transporter | Homo sapiens (Human) | PR |
| Q9H2J7 | SLC6A15 | Sodium-dependent neutral amino acid transporter B(0)AT2 | Homo sapiens (Human) | PR |
| Q9GZN6 | SLC6A16 | Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 | Homo sapiens (Human) | PR |
| Q9H1V8 | SLC6A17 | Sodium-dependent neutral amino acid transporter SLC6A17 | Homo sapiens (Human) | PR |
| O55192 | Slc6a2 | Sodium-dependent noradrenaline transporter | Mus musculus (Mouse) | PR |
| O88575 | Slc6a20b | Sodium- and chloride-dependent transporter XTRP3B | Mus musculus (Mouse) | PR |
| Q9D687 | Slc6a19 | Sodium-dependent neutral amino acid transporter B(0)AT1 | Mus musculus (Mouse) | PR |
| O35316 | Slc6a6 | Sodium- and chloride-dependent taurine transporter | Mus musculus (Mouse) | PR |
| P31650 | Slc6a11 | Sodium- and chloride-dependent GABA transporter 3 | Mus musculus (Mouse) | PR |
| P31648 | Slc6a1 | Sodium- and chloride-dependent GABA transporter 1 | Mus musculus (Mouse) | PR |
| Q9JMA9 | Slc6a14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) | Mus musculus (Mouse) | PR |
| P31649 | Slc6a13 | Sodium- and chloride-dependent GABA transporter 2 | Mus musculus (Mouse) | PR |
| Q8VBW1 | Slc6a8 | Sodium- and chloride-dependent creatine transporter 1 | Mus musculus (Mouse) | PR |
| O88576 | Slc6a18 | Sodium-dependent neutral amino acid transporter B(0)AT3 | Mus musculus (Mouse) | PR |
| Q761V0 | Slc6a5 | Sodium- and chloride-dependent glycine transporter 2 | Mus musculus (Mouse) | PR |
| Q64093 | Slc6a20 | Sodium- and chloride-dependent transporter XTRP3 | Rattus norvegicus (Rat) | PR |
| Q62687 | Slc6a18 | Sodium-dependent neutral amino acid transporter B(0)AT3 | Rattus norvegicus (Rat) | PR |
| P31662 | Slc6a17 | Sodium-dependent neutral amino acid transporter SLC6A17 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPKNSKVTQR | EHSNEHVTES | VADLLALEEP | VDYKQSVLNV | AGETGGKQKV | AEEELDTEDR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PAWNSKLQYI | LAQIGFSVGL | GNIWRFPYLC | QKNGGGAYLV | PYLVLLIIIG | IPLFFLELAV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GQRIRRGSIG | VWHYVCPRLG | GIGFSSCIVC | LFVGLYYNVI | IGWSVFYFFK | SFQYPLPWSE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CPVIRNGTVA | VVEPECEKSS | ATTYFWYREA | LDISNSISES | GGLNWKMTLC | LLVAWSIVGM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AVVKGIQSSG | KVMYFSSLFP | YVVLACFLVR | GLLLRGAVDG | ILHMFTPKLD | KMLDPQVWRE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AATQVFFALG | LGFGGVIAFS | SYNKQDNNCH | FDAALVSFIN | FFTSVLATLV | VFAVLGFKAN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IMNEKCVVEN | AEKILGYLNS | NVLSRDLIPP | HVNFSHLTTK | DYSEMYSVIM | TVKEKQFPAL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GLDPCLLEDE | LDKSVQGTGL | AFIAFTEAMT | HFPASPFWSV | MFFLMLINLG | LGSMIGTMAG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ITTPIIDTFK | VPKEMFTVGC | CVFAFFVGLL | FVQRSGNYFV | TMFDDYSATL | PLTVIVILEN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IAVAWIYGTK | KFMQELTEML | GFQPYRFYFY | MWKFVSPLCM | AVLTTASIIQ | LGVSPPGYSA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| WIKEEAAERY | LYFPNWAMAL | LITLIAVATL | PIPVVFILRH | FHLLSDGSNT | LSVSYKKGRM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MKDISNLEEN | DETRFILSKV | PSEAPSPMPT | HRSYLGPGST | SPLDNSNNPN | GRYGSGYLLA |
| STPESEL |