Seroatlas · Human Serome Atlas

SLC6A17

Sodium-dependent neutral amino acid transporter SLC6A17

Also known as: NTT4, S6A17_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9H1V8
Gene
SLC6A17
Ensembl
ENSG00000197106
Chromosome
1
Canonical length
727 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

727 residues, UniProt reviewed canonical sequence.

>Q9H1V8|SLC6A17
     1  MPKNSKVTQR EHSSEHVTES VADLLALEEP VDYKQSVLNV AGEAGGKQKA VEEELDAEDR
    61  PAWNSKLQYI LAQIGFSVGL GNIWRFPYLC QKNGGGAYLV PYLVLLIIIG IPLFFLELAV
   121  GQRIRRGSIG VWHYICPRLG GIGFSSCIVC LFVGLYYNVI IGWSIFYFFK SFQYPLPWSE
   181  CPVVRNGSVA VVEAECEKSS ATTYFWYREA LDISDSISES GGLNWKMTLC LLVAWSIVGM
   241  AVVKGIQSSG KVMYFSSLFP YVVLACFLVR GLLLRGAVDG ILHMFTPKLD KMLDPQVWRE
   301  AATQVFFALG LGFGGVIAFS SYNKQDNNCH FDAALVSFIN FFTSVLATLV VFAVLGFKAN
   361  IMNEKCVVEN AEKILGYLNT NVLSRDLIPP HVNFSHLTTK DYMEMYNVIM TVKEDQFSAL
   421  GLDPCLLEDE LDKSVQGTGL AFIAFTEAMT HFPASPFWSV MFFLMLINLG LGSMIGTMAG
   481  ITTPIIDTFK VPKEMFTVGC CVFAFLVGLL FVQRSGNYFV TMFDDYSATL PLTLIVILEN
   541  IAVAWIYGTK KFMQELTEML GFRPYRFYFY MWKFVSPLCM AVLTTASIIQ LGVTPPGYSA
   601  WIKEEAAERY LYFPNWAMAL LITLIVVATL PIPVVFVLRH FHLLSDGSNT LSVSYKKGRM
   661  MKDISNLEEN DETRFILSKV PSEAPSPMPT HRSYLGPGST SPLETSGNPN GRYGSGYLLA
   721  STPESEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC6A17 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
12
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
54 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 54 nTPM
  • cerebellum: 39 nTPM
  • hypothalamus: 25 nTPM
  • pituitary gland: 24 nTPM
  • hippocampal formation: 18 nTPM
  • basal ganglia: 17 nTPM

Single-cell type

  • lactotrophs: 209 nCPM
  • somatotrophs: 154 nCPM
  • corticotrophs: 75 nCPM
  • melanocytes: 72 nCPM
  • brain inhibitory neurons: 59 nCPM
  • brain excitatory neurons: 56 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 192 nTPM
  • thalamus: 135 nTPM
  • basal ganglia: 125 nTPM
  • white matter: 113 nTPM
  • pons: 108 nTPM
  • hippocampal formation: 92 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC6A17.

Disease | AllUniProt

Conditions SLC6A17 is implicated in, by any mechanism.

  • Intellectual developmental disorder, autosomal recessive 48 (MRT48) MIM:616269

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 143 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.42
gnomAD pLI
0.5
gnomAD missense Z
2.39
DepMap mean gene effect
-0.23
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC6A17 as an antibody target. Whether an autoantibody or antibody against SLC6A17 could matter depends on whether native SLC6A17 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC6A17 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SLC6A17 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC6A17. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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