SLC6A17 - solute carrier family 6 member 17 Gene

Also Known as NTT4; MRT48

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 388662

About SLC6A17

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:110,150,494-110,202,202 (from NCBI)

This gene has 2 transcripts (splice variants), 269 orthologues, 19 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 23.3), adrenal (RPKM 2.5) and 1 other tissue.

Summary

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 Products (1)

mRNA Protein Name
NM_001010898.4 NP_001010898.1 sodium-dependent neutral amino acid transporter SLC6A17

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC6A17 Protein Structure

SNF

SNF: Sodium:neurotransmitter symporter family (60 - 642)

  • 0
  • 200
  • 400
  • 600
  • 727 a.a.
Protein Preferred Names Protein Names

sodium-dependent neutral amino acid transporter SLC6A17

  • neurotransmitter transporter 4

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Recessive 48

  • Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome

  • MRT48

  • Autosomal Recessive Intellectual Developmental Disorder 48
Trichothiodystrophy 2, Photosensitive

  • TTD2

  • Photosensitive Trichothiodystrophy 2
Tremor

  • Medicament-Induced Tremor

  • Medication-Induced Postural Tremor
Developmental And Epileptic Encephalopathy 3

  • Epileptic Encephalopathy, Early Infantile, 3

  • DEE3

  • Eiee3

  • Early Myoclonic Encephalopathy

  • Developmental And Epileptic Encephalopathy, 3

  • Early Infantile Epileptic Encephalopathy 3

  • Eme

  • Neonatal Epilepsy With Suppression-Burst Pattern

  • Encephalopathy, Epileptic, Early Infantile, Type 3
Trichothiodystrophy 3, Photosensitive

  • TTD3

  • Trichothiodystrophy, Complementation Group A

  • Ttda

  • Photosensitive Trichothiodystrophy 3

  • Trichothiodystrophy Complementation Group A
Retinitis Pigmentosa 68

  • RP68

  • Retinitis Pigmentosa, Type 68
Dicarboxylic Aminoaciduria

  • Glutamate-Aspartate Transport Defect

  • Dicarboxylicaminoaciduria

  • DCBXA

  • Renal Aminoacidurias
Hartnup Disorder

  • Hartnup Disease

  • HND

  • Neutral 1 Amino Acid Transport Defect

  • Neutral Amino Acid Transport Defect

  • Deficiency Of Tryptophan Oxygenase

  • Hartnup'S Disease

  • Aminoaciduria, Hartnup Type

  • Disorder Of Neutral Amino Acid Transport
Iminoglycinuria

  • Iminoglycinuria, Digenic

  • IG
Hyperekplexia

  • Hereditary Hyperekplexia

  • Kok Disease

  • Congenital Stiff Man Syndrome

  • Familial Startle Disease

  • Sthe

  • Stiff-Baby Syndrome

  • Hereditary Hyperexplexia

  • Startle Disease

  • Exaggerated Startle Reaction

  • Hyperexplexia Hereditary

  • Startle Disease, Familial

  • Startle Reaction, Exaggerated

  • Stiff-Man Syndrome, Congenital

  • Stiff-Person Syndrome, Congenital

  • Congenital Stiff-Man Syndrome

  • Congenital Stiff-Person Syndrome

  • Familial Hyperekplexia

  • Startle Syndrome

  • Stiff Baby Syndrome

  • Hyperekplexia, Hereditary

  • Stiff-Person Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13303 SLC6A17 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris SLC6A17 VGNC VGNC:46459
Macaca mulatta SLC6A17 VGNC VGNC:77805
Mus musculus SLC6A17 MGD MGI:2442535
Rattus norvegicus SLC6A17 RGD RGD:1587185
Bos taurus SLC6A17 VGNC VGNC:50163
Felis catus SLC6A17 VGNC VGNC:65412
Others SLC6A17 NCBI