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 0.000
glioblastoma -1.800 0.000
oligodendroglioma -1.400 0.000
osteosarcoma 2.718 0.000
posterior fossa group A ependymoma -2.100 0.000
group 3 medulloblastoma -1.900 0.000
atypical teratoid/rhabdoid tumor -1.900 0.000
medulloblastoma, large-cell -1.100 0.000
primitive neuroectodermal tumor -1.500 0.000
pediatric high grade glioma -1.800 0.000
pilocytic astrocytoma -1.900 0.000
lung carcinoma 4.800 0.000
ovarian cancer -1.200 0.000

Synonym

Accession Q9H1V8 A6NEA8 A8K1R7 B9EIR5 Q5T5Q9
Symbols NTT4
MRT48

Gene

PANTHER Protein Class (2)

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).
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