Property Summary

NCBI Gene PubMed Count 11
PubMed Score 8.93
PubTator Score 2.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytoma -1.300 3.0e-29
glioblastoma -1.800 3.7e-12
oligodendroglioma -1.400 2.5e-22
osteosarcoma 2.718 5.8e-09
posterior fossa group A ependymoma -2.100 2.4e-16
group 3 medulloblastoma -1.900 1.9e-04
atypical teratoid/rhabdoid tumor -1.900 6.2e-10
medulloblastoma, large-cell -1.100 1.0e-04
primitive neuroectodermal tumor -1.500 4.7e-06
pediatric high grade glioma -1.800 1.6e-08
pilocytic astrocytoma -1.900 4.5e-10
lung carcinoma 4.800 9.6e-62
ovarian cancer -1.200 4.3e-06

Gene RIF (3)

PMID Text
25704603 Our genetic findings implicate homozygous SLC6A17 mutations in autosomal-recessive intellectual disability.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19147495 The substrate profile of the NTT4/XT1-dependent activity is similar to that of the closely related B(0)AT2/SBAT1 (SLC6A15), including a submillimolar apparent affinity for proline and leucine and a low millimolar apparent affinity for glutamine.

AA Sequence

MPKNSKVTQREHSSEHVTESVADLLALEEPVDYKQSVLNVAGEAGGKQKAVEEELDAEDRPAWNSKLQYI      1 - 70
LAQIGFSVGLGNIWRFPYLCQKNGGGAYLVPYLVLLIIIGIPLFFLELAVGQRIRRGSIGVWHYICPRLG     71 - 140
GIGFSSCIVCLFVGLYYNVIIGWSIFYFFKSFQYPLPWSECPVVRNGSVAVVEAECEKSSATTYFWYREA    141 - 210
LDISDSISESGGLNWKMTLCLLVAWSIVGMAVVKGIQSSGKVMYFSSLFPYVVLACFLVRGLLLRGAVDG    211 - 280
ILHMFTPKLDKMLDPQVWREAATQVFFALGLGFGGVIAFSSYNKQDNNCHFDAALVSFINFFTSVLATLV    281 - 350
VFAVLGFKANIMNEKCVVENAEKILGYLNTNVLSRDLIPPHVNFSHLTTKDYMEMYNVIMTVKEDQFSAL    351 - 420
GLDPCLLEDELDKSVQGTGLAFIAFTEAMTHFPASPFWSVMFFLMLINLGLGSMIGTMAGITTPIIDTFK    421 - 490
VPKEMFTVGCCVFAFLVGLLFVQRSGNYFVTMFDDYSATLPLTLIVILENIAVAWIYGTKKFMQELTEML    491 - 560
GFRPYRFYFYMWKFVSPLCMAVLTTASIIQLGVTPPGYSAWIKEEAAERYLYFPNWAMALLITLIVVATL    561 - 630
PIPVVFVLRHFHLLSDGSNTLSVSYKKGRMMKDISNLEENDETRFILSKVPSEAPSPMPTHRSYLGPGST    631 - 700
SPLETSGNPNGRYGSGYLLASTPESEL                                               701 - 727
//

Text Mined References (12)

PMID Year Title
25970702 2015 Mutations in SLC6A17 cause autosomal-recessive intellectual disability.
25704603 2015 Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19147495 2009 Synaptic Vesicle Protein NTT4/XT1 (SLC6A17) Catalyzes Na+-coupled Neutral Amino Acid Transport.
18768736 2008 The orphan transporter Rxt1/NTT4 (SLC6A17) functions as a synaptic vesicle amino acid transporter selective for proline, glycine, leucine, and alanine.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16125675 2005 The repertoire of solute carriers of family 6: identification of new human and rodent genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.