Property Summary

NCBI Gene PubMed Count 35
Grant Count 8
Funding $752,841.01
PubMed Score 53.19
PubTator Score 41.25

Knowledge Summary

Patent

No data available

Expression

 GWAS Trait (1)

Gene RIF (14)

PMID Text
26138499 SLC1A4 is the disease causing gene of a novel neurologic disorder manifesting with significant intellectual disability, severe postnatal microcephaly, spasticity and thin corpus callosum.
26041762 ASCT1 is essential in brain serine transport.
25930971 SLC1A4 disruption may impair brain development and function by decreasing the levels of L-serine in neurons. The identification of additional families with mutations in SLC1A4 would be necessary to confirm its involvement in intellectual disability.
24808181 Na+ interactions with the neutral amino acid transporter ASCT1.
20424473 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
18638388 SLC1A4 gene is associated with schizophrenia.
18638388 Observational study of gene-disease association. (HuGE Navigator)
18442140 This study revealed genetic associations of SLC1A4, SQSTM1, and EIF4EBP1 with MSA. These results may lend genetic support to the hypothesis that oxidative stress is associated with the pathogenesis of MSA.
18442140 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MEKSNETNGYLDSAQAGPAAGPGAPGTAAGRARRCAGFLRRQALVLLTVSGVLAGAGLGAALRGLSLSRT      1 - 70
QVTYLAFPGEMLLRMLRMIILPLVVCSLVSGAASLDASCLGRLGGIAVAYFGLTTLSASALAVALAFIIK     71 - 140
PGSGAQTLQSSDLGLEDSGPPPVPKETVDSFLDLARNLFPSNLVVAAFRTYATDYKVVTQNSSSGNVTHE    141 - 210
KIPIGTEIEGMNILGLVLFALVLGVALKKLGSEGEDLIRFFNSLNEATMVLVSWIMWYVPVGIMFLVGSK    211 - 280
IVEMKDIIVLVTSLGKYIFASILGHVIHGGIVLPLIYFVFTRKNPFRFLLGLLAPFATAFATCSSSATLP    281 - 350
SMMKCIEENNGVDKRISRFILPIGATVNMDGAAIFQCVAAVFIAQLNNVELNAGQIFTILVTATASSVGA    351 - 420
AGVPAGGVLTIAIILEAIGLPTHDLPLILAVDWIVDRTTTVVNVEGDALGAGILHHLNQKATKKGEQELA    421 - 490
EVKVEAIPNCKSEEETSPLVTHQNPAGPVASAPELESKESVL                                491 - 532
//

Text Mined References (44)

PMID Year Title
26138499 2015 SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
26041762 2015 Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25930971 2015 A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24808181 2014 Na+ interactions with the neutral amino acid transporter ASCT1.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
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