Vitamin B12 disorders (Homo sapiens)

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1345245342222LysosomeDistribution via bloodIleal mucosal cellsepithelial cellsTissueTarget cellCubam receptorAbsorption and transportDietary Cbl:meat, milk, eggs, fish, and shellfishMetionineMUTcbLFMethylmalonic AcidSuccinyl-CoAFMNNADPHAdenosylcobalaminFADcbID-MMAMTHFTC receptorTC IIHCCUBNCblCblHCCblHCCblIFIFCblIFAMNCblIFTC IIHCIFCblHCCblHCCblTC II2CblTC IITC receptorCblTC IICbl(cyanocobalamin)Cbl(cob(II)alamin)cbLJ4cbLCCblCblMitochondrionCblcbIBcbIAMethylmalonyl-CoAcbLD-HcycbLDMethylcobalamincbIEHomocysteineTHFcbIGcoBM/cbLFCytosolcbLCcbLCcbLCFADFMN544


Description

This pathway depicts the metabolism of cobalamin (Vit. B12) and related diseases (for a full overview of the B12 metabolism, see [1]). This pathway was inspired by Chapter 13 of the book of Blau (ISBN 978-3-642-40337-8).

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Quality Tags

Ontology Terms

 

Bibliography

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  1. Yamada K, Gherasim C, Banerjee R, Koutmos M; ''Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.''; J Biol Chem, 2015 PubMed Europe PMC Scholia
  2. Froese DS, Zhang J, Healy S, Gravel RA; ''Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.''; Mol Genet Metab, 2009 PubMed Europe PMC Scholia
  3. Blau, Nenad, Duran, Marinus, Gibson, K. Michael, Dionisi-Vici, Carlo; '''Physician's Guidee to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; , 2014
  4. Watkins D, Rosenblatt DS; ''Inborn errors of cobalamin absorption and metabolism.''; Am J Med Genet C Semin Med Genet, 2011 PubMed Europe PMC Scholia
  5. Froese DS, Gravel RA; ''Genetic disorders of vitamin B12 metabolism: eight complementation groups--eight genes.''; Expert Rev Mol Med, 2010 PubMed Europe PMC Scholia
  6. Wolthers KR, Lou X, Toogood HS, Leys D, Scrutton NS; ''Mechanism of coenzyme binding to human methionine synthase reductase revealed through the crystal structure of the FNR-like module and isothermal titration calorimetry.''; Biochemistry, 2007 PubMed Europe PMC Scholia
  7. Raux E, Schubert HL, Warren MJ; ''Biosynthesis of cobalamin (vitamin B12): a bacterial conundrum.''; Cell Mol Life Sci, 2000 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
128221view04:13, 29 January 2024EweitzModified description
128220view04:11, 29 January 2024EweitzSoften disease color, standardize case
124608view19:40, 15 November 2022EgonwReplaced an old Wikidata identifier
124266view11:56, 6 October 2022DeSlConverted last interaction from textlabel to graphical line
124265view11:55, 6 October 2022DeSlAdded link to PWM folate metabolism
124264view11:52, 6 October 2022DeSlUpdated IDs for MTHF and THF, based on overlapping PWM
124259view07:53, 6 October 2022DeSlConverted interactions to diseases into graphical lines
120408view09:24, 30 November 2021Fehrhartsmall graphical change in pathway node
119259view19:47, 22 June 2021Finterlyfixed ISBN from ebook to hardcover
119255view19:43, 22 June 2021FinterlyAdded ISBN for book citation
117853view15:20, 22 May 2021EweitzModified title
114414view15:21, 10 January 2021DeSlAdded legend
114413view15:18, 10 January 2021DeSlTypo fix for methionine
104475view17:45, 28 May 2019EgonwConverted a number of Label-Interaction's to graphical lines.
104474view17:37, 28 May 2019EgonwFixed the href URL.
104025view17:39, 25 April 2019IreneHemelModified description
99064view12:23, 29 October 2018DeSlModified description
99063view12:14, 29 October 2018DeSlOntology Term : 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' added !
99062view12:13, 29 October 2018DeSlOntology Term : 'mitochondria dynamics pathway' added !
99061view12:12, 29 October 2018DeSlOntology Term : 'metabolising cell' added !
99060view12:11, 29 October 2018DeSlOntology Term : 'eukaryotic cell' added !
99059view12:11, 29 October 2018DeSlOntology Term : 'methylmalonic acidemia' added !
99058view12:10, 29 October 2018DeSlOntology Term : 'methylmalonic acidemia cb1B type' added !
99057view12:10, 29 October 2018DeSlOntology Term : 'methylmalonic acidemia cb1A type' added !
99056view12:09, 29 October 2018DeSlOntology Term : 'vitamin B12 deficiency' added !
99055view12:09, 29 October 2018DeSlOntology Term : 'methylmalonic aciduria, cobalamin-related pathway' added !
99054view12:09, 29 October 2018DeSlOntology Term : 'methylmalonic aciduria and homocystinuria type cblF' added !
99053view12:09, 29 October 2018DeSlOntology Term : 'methylmalonic aciduria and homocystinuria type cblD' added !
99052view12:09, 29 October 2018DeSlOntology Term : 'methylmalonic aciduria and homocystinuria type cblC' added !
99051view12:09, 29 October 2018DeSlOntology Term : 'cobalamin metabolic pathway' added !
99050view12:07, 29 October 2018DeSlAnnotated last nodes.
99049view12:01, 29 October 2018DeSlRemoved weird signs in lit. ref
99048view11:59, 29 October 2018DeSlAdded other diseases from chapter.
99047view11:01, 29 October 2018DeSlAdded several disease from Blau book.
99021view12:32, 24 October 2018DeSlUpdating last edits.
99003view15:33, 22 October 2018DeSlAdded annotation and complete reaction for cbLE
99002view15:21, 22 October 2018DeSlChanged layout of text boxes for readability.
99000view08:43, 22 October 2018DeSlAdded ID for IF.
98999view08:41, 22 October 2018DeSlChanged font size, added intracellular metabolism textbox.
98998view08:38, 22 October 2018DeSlChanged layout for readability on Website.
98979view05:33, 19 October 2018EgonwRemoved duplicate fields in Biopax publicationXref (causing info to disappear).
98978view05:32, 19 October 2018EgonwFixed weird chars in article title.
98975view19:30, 18 October 2018DeSlAdded more info about MUT and cbLG.
98974view19:23, 18 October 2018DeSlannotated Cbl after cbLD conversion step.
98973view19:15, 18 October 2018DeSlAdded annotation for cbDL-I and II
98972view19:11, 18 October 2018DeSlAdded lit. ref and annotation for cbLD step
98971view19:05, 18 October 2018DeSlAdded more nodes for cbLC conversion step + annotated nodes.
98970view18:15, 18 October 2018DeSlAdded right side (methylcobalamin formation), annotated several metabolites.
98969view18:04, 18 October 2018DeSlAdded conversion to adenosylcobalamin side.
98968view11:12, 18 October 2018DeSlAdded another lit. ref for specific transport info in chapter

External references

DataNodes

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NameTypeDatabase referenceComment
AMNProteinQ9BXJ7 (Uniprot-TrEMBL) aka amnionless
AdenosylcobalaminMetaboliteQ47517602 (Wikidata) biologically active form
CUBNProteinO60494 (Uniprot-TrEMBL) aka cubilin
Cbl (cob(II)alamin)MetaboliteCHEBI:16304 (ChEBI) Should be cob(II)alamin according to literature
Cbl (cyanocobalamin)MetaboliteQ27286306 (Wikidata) Cobalamin has been transformed to cyanocobalamin according to lit., before it can undergo conversion by cbLC.
CblMetaboliteQ3329800 (Wikidata)
FADMetaboliteCHEBI:16238 (ChEBI) cofactor
FMNMetaboliteCHEBI:17621 (ChEBI) cofactor
HCProteinP20061 (Uniprot-TrEMBL) aka haptocorrin or transcobalamin 1
HomocysteineMetabolite
IFProteinaka intrinsic factor
MTHFMetaboliteCHEBI:25345 (ChEBI) Aka methyltetrahydrofolate
MUTProtein
MethylcobalaminMetaboliteCHEBI:28115 (ChEBI) biologically active forms
Methylmalonic AcidMetaboliteCHEBI:30860 (ChEBI)
Methylmalonyl-CoAMetaboliteCHEBI:16625 (ChEBI)
MetionineMetaboliteCHEBI:16811 (ChEBI)
NADPHMetaboliteCHEBI:16474 (ChEBI)
Succinyl-CoAMetaboliteCHEBI:15380 (ChEBI)
TC IIProteinP20062 (Uniprot-TrEMBL) aka Transcobalamin 2
TC receptorProteinIPR021663 (InterPro)
THFMetaboliteCHEBI:67016 (ChEBI) Aka tetrahydrofolate
cbIAProtein
cbIBProtein
cbID-MMAProtein
cbIEProtein
cbIGProtein
cbLCProteinQ9Y4U1 (Uniprot-TrEMBL) Gene is MMAC
cbLDProtein
cbLD-HcyProteinHcy = homocysteine
cbLFProtein2.1.1.133 (Enzyme Nomenclature)
cbLJProtein2.1.1.131 (Enzyme Nomenclature)
coBM/cbLFProtein2.1.1.133 (Enzyme Nomenclature)

Annotated Interactions

No annotated interactions

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