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  8. Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial

Tbio Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]

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Property Summary

NCBI Gene PubMed Count 33
PubMed Score 60.12
PubTator Score 170.30

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
ovarian cancer 8492 6.55631097637041E-5
pancreatic ductal adenocarcinoma liver metastasis 1795 0.0153839376273141
non primary Sjogren syndrome sicca 840 0.0265879720248885
Disease Target Count Z-score Confidence
Methylmalonic acidemia 39 6.308 3.2
Disease Target Count Z-score Confidence
Vitamin B12 deficiency 20 3.234 1.6
Disease Target Count
Methylmalonic aciduria type cblB 1

Expression

  Differential Expression (3)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -1.476 0.015
non primary Sjogren syndrome sicca 1.200 0.027
ovarian cancer -2.000 0.000

Synonym

Accession Q96EY8 C5HU05 Q9BSH0
Symbols ATR
cob
cblB
CFAP23

Gene

MMAB

PANTHER Protein Class (2)

PDB

2IDX  

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus EggNOG Inparanoid
C. elegans OMA Inparanoid

 GO Function (2)

 GO Component (1)

 GO Process (2)

 Compartment GO Term (22)

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 GWAS Trait (2)

 HCA RNA Cell Line (56)

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Pathway (9)

 UniProt Keyword (12)

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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
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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.
More...