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

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

Adenosyltransferase involved in intracellular vitamin B12 metabolism. Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer taht is stimulated by ATP-binding to MMAB and gated by MMAA.

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]

 Comments

Property Summary

NCBI Gene PubMed Count 37
PubMed Score 63.74
PubTator Score 170.30

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Methylmalonic aciduria cblB type 1 0.0 0.0
Disease Target Count
Depressive disorder 409
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Methylmalonic acidemia 37 6.406 3.2
Disease Target Count Z-score Confidence
Vitamin B12 deficiency 20 3.634 1.8

Expression

  Differential Expression (3)

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

Synonym

Accession Q96EY8 C5HU05 Q9BSH0
Symbols ATR
cob
cblB
CFAP23

Gene

MMAB

PANTHER Protein Class (2)

  Ortholog (11)

Species Source Disease
Inparanoid OMA
Inparanoid OMA
OMA EggNOG
Inparanoid OMA
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG

 UniProt Keyword (12)

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 GO Function (3)

 GO Component (1)

 GO Process (2)

 Compartment GO Term (22)

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 GWAS Trait (3)

 HCA RNA Cell Line (56)

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Pathway (8)

PDB (1)

Gene RIF (22)

AA Sequence 

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

Text Mined References (39)

PMID Year Title