Property Summary

NCBI Gene PubMed Count 33
PubMed Score 60.12
PubTator Score 170.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -1.476 1.5e-02
non primary Sjogren syndrome sicca 1.200 2.7e-02
ovarian cancer -2.000 6.6e-05

Gene RIF (20)

PMID Text
23707710 MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort.
21604717 Pathogenicity of the human truncation mutant results from its inability to sequester AdoCbl for direct transfer to methylmalonyl-CoA mutase, resulting in holoenzyme formation.
20972250 Observational study of gene-disease association. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20571754 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20556797 c.584G>A, c.349-1G>C, and c.290G>A mutations affect the splicing process of ATR.
20430392 Observational study of gene-disease association. (HuGE Navigator)
20160193 Observational study of gene-disease association. (HuGE Navigator)
20159775 These data suggest MMAB is the most likely gene influencing high-density lipoprotein-cholesterol levels at MMAB-MVK locus.
19625202 Characterization of ligand-binding by MMAB provides insight into the mechanism of cobalamin adenosylation and the effect of patient mutations in the inherited disorder
19605566 homozygotes for the major allele (G) at MMAB_3U3527G-->C had higher LDL-cholesterol concentrations than did carriers of the minor allele (P = 0.034).
19605566 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19487539 Observational study of gene-disease association. (HuGE Navigator)
18251506 Results functionally defined the hATR active site and tentatively implicated three amino acid residues in facilitating the reduction of cob(II)alamin to cob(I)alamin which is a prerequisite to adenosylation.
18193043 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
17957493 Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
17597648 Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB.
17410422 Mutations in methylmalonic aciduria type B protein is associated with methylmalonic acidemia
15347655 Results describe two common polymorphic variants of ATP:cob(I)alamin adenosyltransferase that are found in normal individuals, and their interactions with methionine synthase reductase.
12514191 report the identification of ATR cDNA as well as the corresponding gene; ATR expression is altered in cell lines derived from cblB methylmalonyl aciduria patients; propose that inborn errors in the ATR gene identified here result in methylmalonyl aciduria

AA Sequence

MAVCGLGSRLGLGSRLGLRGCFGAARLLYPRFQSRGPQGVEDGDRPQPSSKTPRIPKIYTKTGDKGFSST      1 - 70
FTGERRPKDDQVFEAVGTTDELSSAIGFALELVTEKGHTFAEELQKIQCTLQDVGSALATPCSSAREAHL     71 - 140
KYTTFKAGPILELEQWIDKYTSQLPPLTAFILPSGGKISSALHFCRAVCRRAERRVVPLVQMGETDANVA    141 - 210
KFLNRLSDYLFTLARYAAMKEGNQEKIYMKNDPSAESEGL                                  211 - 250
//

Text Mined References (35)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24951543 2014 Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23707710 High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.
21604717 2011 Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase.
21269460 2011 Initial characterization of the human central proteome.
20972250 2011 Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
20571754 2010 Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
20556797 2010 Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
20430392 2010 No interaction between alcohol consumption and HDL-related genes on HDL cholesterol levels.
20160193 2010 Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples.
20159775 2010 Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK.
19625202 2009 Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase.
19605566 2009 Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the Genetics of Lipid Lowering Drugs and Diet Network Study.
19487539 2009 Large scale replication analysis of loci associated with lipid concentrations in a Japanese population.
19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.
18251506 2008 Functional characterization and mutation analysis of human ATP:Cob(I)alamin adenosyltransferase.
18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17957493 2008 Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
17597648 2007 Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
17410422 2007 Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
17176040 2006 Structure of ATP-bound human ATP:cobalamin adenosyltransferase.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15781192 2005 Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15347655 2004 Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase.
12514191 2003 Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12471062 2002 Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.
7829101 1994 Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.