Property Summary

NCBI Gene PubMed Count 17
PubMed Score 15.07
PubTator Score 9.10

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (21)

Disease log2 FC p
nephrosclerosis -1.698 5.3e-03
Waldenstrons macroglobulinemia 1.109 2.2e-02
malignant mesothelioma -2.300 2.5e-07
psoriasis -2.600 1.5e-04
osteosarcoma -2.329 1.2e-03
glioblastoma -1.300 1.2e-03
group 3 medulloblastoma -2.200 1.1e-06
atypical teratoid / rhabdoid tumor -1.600 1.5e-05
medulloblastoma, large-cell -2.600 1.0e-04
primitive neuroectodermal tumor -1.500 2.9e-03
pancreatic ductal adenocarcinoma liver m... -2.966 6.3e-03
intraductal papillary-mucinous neoplasm ... -1.300 1.5e-02
lung cancer -1.600 1.6e-03
colon cancer -2.200 2.6e-02
interstitial cystitis -1.500 3.7e-04
adult high grade glioma -1.400 1.7e-04
gastric carcinoma -2.100 8.0e-03
ductal carcinoma in situ -1.300 1.0e-03
invasive ductal carcinoma -1.600 2.4e-03
ulcerative colitis -1.200 1.1e-03
ovarian cancer -1.100 4.2e-03

Protein-protein Interaction (2)

Gene RIF (5)

PMID Text
25099943 ACAT1, ACACA, ALDH6A1 and MTHFD1 represent novel biomarkers in adipose tissue associated with type 2 diabetes in obese individuals.
21863277 Mutation analysis in the ALDH6A1 gene can reveal a cause of 3-hydroxyisobutyric aciduria, which may present with only slightly increased urinary levels of 3-hydroxyisobutyric acid, if a patient is metabolically stable [case reports]
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19343046 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGR      1 - 70
VPQATKAEMDAAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIAKLITLEQGKTLADAEGDVFR     71 - 140
GLQVVEHACSVTSLMMGETMPSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKP    141 - 210
SERVPGATMLLAKLLQDSGAPDGTLNIIHGQHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRV    211 - 280
QANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQ    281 - 350
PGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTCYKEEIFG    351 - 420
PVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLPMFSFTGSRSS    421 - 490
FRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR                             491 - 535
//

Text Mined References (22)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25099943 2014 Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23835272 2013 Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
21863277 2012 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15909363 2005 Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14718574 2004 The human plasma proteome: a nonredundant list developed by combination of four separate sources.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10947204 2000 Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
1527093 1992 CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution.