Property Summary

NCBI Gene PubMed Count 25
Grant Count 12
R01 Count 7
Funding $4,534,513.34
PubMed Score 191.07
PubTator Score 48.37

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
psoriasis 1.200 0.003
osteosarcoma 2.336 0.000
ependymoma 1.100 0.000
group 3 medulloblastoma 1.500 0.000
atypical teratoid/rhabdoid tumor 1.500 0.000
medulloblastoma, large-cell 2.000 0.000
non-small cell lung cancer 1.543 0.000
lung cancer 2.200 0.000
pediatric high grade glioma 1.100 0.000
pilocytic astrocytoma 1.100 0.000
lung adenocarcinoma 1.300 0.000
invasive ductal carcinoma 1.200 0.001
ulcerative colitis -1.300 0.000
ovarian cancer 2.800 0.000

 GWAS Trait (1)

Gene RIF (16)

PMID Text
26320891 Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
26026163 autosomal recessive transmission of ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment
24913064 A frameshift deletion of one nucleotide and a microdeletion affecting the ALDH18A1 gene, respectively, in a homozygous state in both patients, was identified.
23125841 Tandem affinity purification and mass spectrometry analysis identify aldehyde dehydrogenase 18 family member A1 (ALDH18A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23125841 Tandem affinity purification and mass spectrometry analysis identify aldehyde dehydrogenase 18 family member A1 (ALDH18A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23125841 Tandem affinity purification and mass spectrometry analysis identify aldehyde dehydrogenase 18 family member A1 (ALDH18A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23125841 Tandem affinity purification and mass spectrometry analysis identify aldehyde dehydrogenase 18 family member A1 (ALDH18A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
21739576 expansion of the phenotypic spectrum associated with mutations in ALDH18A1
20946940 ALDH18A1 genetic variants are associated with Down syndrome in subjects with dementia of Alzheimer's disease.
20946940 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKSFAHRSELKHA      1 - 70
KRIVVKLGSAVVTRGDECGLALGRLASIVEQVSVLQNQGREMMLVTSGAVAFGKQRLRHEILLSQSVRQA     71 - 140
LHSGQNQLKEMAIPVLEARACAAAGQSGLMALYEAMFTQYSICAAQILVTNLDFHDEQKRRNLNGTLHEL    141 - 210
LRMNIVPIVNTNDAVVPPAEPNSDLQGVNVISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDD    211 - 280
AKLIDIFYPGDQQSVTFGTKSRVGMGGMEAKVKAALWALQGGTSVVIANGTHPKVSGHVITDIVEGKKVG    281 - 350
TFFSEVKPAGPTVEQQGEMARSGGRMLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAA    351 - 420
PLLKRLSLSTSKLNSLAIGLRQIAASSQDSVGRVLRRTRIAKNLELEQVTVPIGVLLVIFESRPDCLPQV    421 - 490
AALAIASGNGLLLKGGKEAAHSNRILHLLTQEALSIHGVKEAVQLVNTREEVEDLCRLDKMIDLIIPRGS    491 - 560
SQLVRDIQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRLVRDSKCEYPAACNALETLLIHRDLLRTPLF    561 - 630
DQIIDMLRVEQVKIHAGPKFASYLTFSPSEVKSLRTEYGDLELCIEVVDNVQDAIDHIHKYGSSHTDVIV    631 - 700
TEDENTAEFFLQHVDSACVFWNASTRFSDGYRFGLGAEVGISTSRIHARGPVGLEGLLTTKWLLRGKDHV    701 - 770
VSDFSEHGSLKYLHENLPIPQRNTN                                                 771 - 795
//

Publication (31)

PMID Year Title
26320891 2015 Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
26297558 2016 ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
26026163 2015 Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
24913064 2014 Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24767728 2014 Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
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