Property Summary

NCBI Gene PubMed Count 35
PubMed Score 53.19
PubTator Score 41.25

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
lung carcinoma 2844 1.93262815209456E-27
non-small cell lung cancer 2798 8.99238414678872E-22
malignant mesothelioma 3163 8.92252769673122E-9
cystic fibrosis 1670 3.69582067344539E-8
tuberculosis 1563 1.39171567719109E-6
osteosarcoma 7933 8.42861557879441E-6
Pick disease 1893 1.49268249123849E-5
ovarian cancer 8492 1.68282049414891E-5
lung adenocarcinoma 2714 3.52687315985941E-5
ulcerative colitis 2087 6.31185246669234E-5
colon cancer 1475 1.57814526699255E-4
group 3 medulloblastoma 2254 2.16858927031532E-4
primary pancreatic ductal adenocarcinoma 1271 2.98440198581255E-4
pancreatic cancer 2300 5.28007434791618E-4
interstitial cystitis 2299 5.99319298831261E-4
Multiple myeloma 1328 9.80743406086572E-4
medulloblastoma, large-cell 6234 0.00159099965073817
Amyotrophic Lateral Sclerosis 432 0.001805564912414
diabetes mellitus 1663 0.00407023745858525
Duchenne muscular dystrophy 602 0.00610625937040837
ductal carcinoma in situ 1745 0.00815587025426814
invasive ductal carcinoma 2950 0.0095678940654769
adrenocortical carcinoma 1427 0.0104729367649954
atypical teratoid / rhabdoid tumor 4369 0.0127969596422796
subependymal giant cell astrocytoma 2287 0.013884473843127
Polycystic Ovary Syndrome 335 0.0201027622763296
Breast cancer 3099 0.0215510499526643
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.031179797057862
X-linked cerebral adrenoleukodystrophy 115 0.0325525917965775
aldosterone-producing adenoma 664 0.0334482052351637
Disease Target Count Z-score Confidence
Epilepsy 346 0.0 4.0
Intellectual disability 573 0.0 4.0
Disease Target Count Z-score Confidence
Serine deficiency 9 3.719 1.9
Microcephaly 149 3.133 1.6

Expression

Synonym

Accession P43007 B7Z3C0 D6W5F0
Symbols SATT
ASCT1
SPATCCM

Gene

PANTHER Protein Class (2)

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA Inparanoid

 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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