Property Summary

NCBI Gene PubMed Count 48
PubMed Score 1238.01
PubTator Score 167.82

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
breast carcinoma -1.100 1.4e-05
cystic fibrosis -1.100 1.3e-03
inflammatory breast cancer -2.100 4.6e-08
acute myeloid leukemia -2.500 3.1e-02

 MGI Phenotype (1)

 GWAS Trait (1)

Protein-protein Interaction (4)

Gene RIF (33)

PMID Text
26555630 This study found five novel mutations of ALDH7A1 gene in pyridoxin dependent epilepsy.
26260980 Binding to ALDH7A1 is associated with movement of the C-terminus into the active site which stabilizes the substrate anchor loop.
26232297 Direct sequencing of the ALDH7A1 gene revealed one novel (c.297delG, p.Trp99*) and two already reported (c.328C>T, p.Arg110*; c.584A>G, p.Asn195Ser) mutations
26224730 Using a custom array, study identified heterozygous intragenic deletions in the ALDH7A1 gene in 5 of 6 patients with pyridoxine-dependent epilepsy and positive biomarkers who had only a single mutation identified by conventional sequence analysis
25213698 our study indicated that the ALDH7A1 rs13182402 polymorphism was associated with risk of ESCC in Chinese populations.
24664145 Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants
24122892 Antiquitin is expressed within glial cells in the brain and its dysfunction in pyridoxine-dependent epilepsy is associated with neuronal migration abnormalities.
23683770 Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding alpha-aminoadipic semialdehyde dehydrogenase (alpha-AASAD) enzyme in the lysine catabolic pathway
23647301 For patients with NSCLC, low ALDH7A1 expression was associated with a decreased incidence of cancer recurrence.
23376216 molecular analysis of seven Pyridoxine-dependent epilepsy Tunisian patients revealed a common missense c.1364T>C mutation in the ALDH7A1 gene; the conservation of a single genotype within the c.1364T > C mutation suggested that this variation has a single origin
23054014 A novel missense mutation c.1364T>C (p.Leu455Pro)was detected in in two unrelated Tunisian families with pyridoxine-dependent epilepsy.
22784480 The effects of a series of twelve disease-associated ALDH7A1 missense mutations on antiquitin activity, were characterized.
22305855 Atypical pyridoxine-dependent epilepsy is due to a pseudoexon in ALDH7A1.
22249334 Ongoing diagnostic screening and monitoring revealed that in some individuals with milder ALDH7A1 variants.
21647815 The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis.
21338592 ALDH7A1 mechanistically appears to provide cells protection through multiple pathways
21185811 the structural basis for the substrate specificity
20877624 Observational study of gene-disease association. (HuGE Navigator)
20814824 Report the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
20639122 The antiquitin 1 oxidation could result in decreased pyridoxal 5-phosphate availability necessary as a cofactor in transaminations, synthesis of glutathione, and synthesis of GABA and dopamine, two neurotransmitters that play a key role in HD pathology.
20512086 KCNQ and AP3S1, but not MAN2A1 or ALDH7A1 have a role in risk of type 2 diabetes in the Chinese Northern Han population
20512086 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20207735 ALDH7A1 is a novel aldehyde dehydrogenase expressed in multiple subcellular compartments that protects against hyperosmotic stress by generating osmolytes and metabolizing toxic aldehydes
20072603 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20072603 A SNP, rs13182402, within the ALDH7A1 gene was strongly associated with osteoporosis.
19885858 antiquitin was present not only in the cytosol but also in the mitochondria.
19294602 Molecular analysis of the antiquitin gene revealed a novel missense mutation c.57insA, while the mutation of the other allele remained unidentified so far.
19142996 In this study both patients in epilepsy reported here had increased CSF alpha-AASA, CSF pipecolic acid, and known or likely pathogenic mutations in the ALDH7A1 gene, consistent with alpha-AASA dehydrogenase deficiency.
19128417 From this study suggested that defects of ALDH7A1 are almost always the cause of neonatal-onset pyridoxine-dependent seizure and that defects in this gene are also responsible for some but not all later-onset cases.
18854520 The diagnosis of pyridoxine-dependent seizures was confirmed with biochemical and molecular testing revealing elevated alpha-AASA excretion and the presence of 2 different mutations in the antiquitin ( ALDH7A1) gene.
18717709 report of 2 unrelated patients affected with pyridoxine-dependent seizures as a result of alpha-aminoadipic semialdehyde dehydrogenase deficiency caused by pathogenic ALDH7A1 mutations; 2 of the 3 mutations are novel & result in erroneous splicing
17433748 allelic and non-allelic heterogeneities of pyridoxine dependent seizures, and cerebrospinal fluid glutamate elevation does not directly correlate with the presence of ALDH7A1 mutations.
16491085 Children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde dehydrogenase.

AA Sequence

MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYC      1 - 70
PANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKIL     71 - 140
VEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMI    141 - 210
CGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGK    211 - 280
QVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRL    281 - 350
KKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHD    351 - 420
ASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGA    421 - 490
EIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ                         491 - 539
//

Text Mined References (52)

PMID Year Title
26555630 2015 A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
26260980 2015 Structural Basis of Substrate Recognition by Aldehyde Dehydrogenase 7A1.
26232297 2015 First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
26224730 2015 Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
25213698 2014 The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma.
24664145 2014 Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24122892 2014 Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.
23683770 Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.
23647301 2013 ALDH7A1 expression is associated with recurrence in patients with surgically resected non-small-cell lung carcinoma.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23376216 2013 Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.
23054014 2013 Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.
22784480 2012 Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
22305855 2012 Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.
22249334 2012 The measurement of urinary ?¹-piperideine-6-carboxylate, the alter ego of ?-aminoadipic semialdehyde, in Antiquitin deficiency.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
21647815 2011 The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis.
21338592 2011 Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity.
21269460 2011 Initial characterization of the human central proteome.
21185811 2011 Human antiquitin: structural and functional studies.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20814824 2010 The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
20639122 2010 Protein oxidation in Huntington disease affects energy production and vitamin B6 metabolism.
20512086 2010 Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis.
20207735 2010 Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress.
20072603 2010 Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.
19885858 2010 Is antiquitin a mitochondrial Enzyme?
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19294602 2008 Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.
19142996 2009 Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
19128417 2009 Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
18854520 2008 Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.
18717709 2009 Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17721876 2007 An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
17433748 2007 Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.
17088338 2007 Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.
17068770 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
16491085 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16159904 2005 Epidemiology of pyridoxine dependent seizures in the Netherlands.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12766061 2003 Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10978228 2000 A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.
9417906 1997 An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1).
8088832 1994 Homology between a human protein and a protein of the green garden pea.