Hemesynthesis defects and porphyrias (Homo sapiens)

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Hereditary coproporphyriaLead poisoningLead poisoningDOSS protophyriaNegative feedbackCongenital erythropoietic porphyriaX-linked protophyriaErythropoietic protoporphyriaLead poisoningHepatocytePorphyria cutanea tardaHepatoerythropoietic porphyriaVariegate porphyriaMitochondriaCytosolGlycineprotoporphyrin IXURODUROSPPOXALAS1ALADCPOXProtohemeProtoporphyrinogen IXhydroxymethylbilanePorphobilinogendelta-aminolevulinic acidSuccinyl-CoAUroporphyrinogen IIICoproporphyrinogen IIIALAS2HMBSFECH


Description

Pathway draft on hemesynthesis in a hepatocyte.

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Quality Tags

Ontology Terms

 

Bibliography

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  1. Moghe A, Ramanujam VMS, Phillips JD, Desnick RJ, Anderson KE; ''Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations.''; Mol Genet Metab Rep, 2019 PubMed Europe PMC Scholia
  2. Doss M, Laubenthal F, Stoeppler M; ''Lead poisoning in inherited delta-aminolevulinic acid dehydratase deficiency.''; Int Arch Occup Environ Health, 1984 PubMed Europe PMC Scholia
  3. Layer G, Reichelt J, Jahn D, Heinz DW; ''Structure and function of enzymes in heme biosynthesis.''; Protein Sci, 2010 PubMed Europe PMC Scholia
  4. Fujita H, Nishitani C, Ogawa K; ''Lead, chemical porphyria, and heme as a biological mediator.''; Tohoku J Exp Med, 2002 PubMed Europe PMC Scholia
  5. Scinicariello F, Murray HE, Moffett DB, Abadin HG, Sexton MJ, Fowler BA; ''Lead and delta-aminolevulinic acid dehydratase polymorphism: where does it lead? A meta-analysis.''; Environ Health Perspect, 2007 PubMed Europe PMC Scholia
  6. Bonkovsky HL, Guo JT, Hou W, Li T, Narang T, Thapar M; ''Porphyrin and heme metabolism and the porphyrias.''; Compr Physiol, 2013 PubMed Europe PMC Scholia
  7. Lahiji AP, Anderson KE, Chan A, Simon A, Desnick RJ, Ramanujam VMS; ''5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.''; Mol Genet Metab, 2020 PubMed Europe PMC Scholia
  8. Phillips JD; ''Hemebiosynthesis and the porphyrias.''; Mol Genet Metab, 2019 PubMed Europe PMC Scholia
  9. Yasuda M, Chen B, Desnick RJ; ''Recent advances on porphyria genetics: Inheritance, penetrance& molecular heterogeneity, including new modifying/causative genes.''; Mol Genet Metab, 2019 PubMed Europe PMC Scholia
  10. Balwani M; ''Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.''; Mol Genet Metab, 2019 PubMed Europe PMC Scholia
  11. Ramanujam VS, Anderson KE; ''Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.''; Curr Protoc Hum Genet, 2015 PubMed Europe PMC Scholia
  12. Stölzel U, Doss MO, Schuppan D; ''Clinical Guide and Update on Porphyrias.''; Gastroenterology, 2019 PubMed Europe PMC Scholia
  13. Sassa S, Kappas A; ''Molecular aspects of the inherited porphyrias.''; J Intern Med, 2000 PubMed Europe PMC Scholia
  14. Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ; ''Harderoporphyria due tohomozygosity for coproporphyrinogen oxidase missense mutation H327R.''; J Inherit Metab Dis, 2011 PubMed Europe PMC Scholia
  15. Barbosa F Jr, Tanus-Santos JE, Gerlach RF, Parsons PJ; ''A critical review of biomarkers used for monitoring human exposure to lead: advantages, limitations, and future needs.''; Environ Health Perspect, 2005 PubMed Europe PMC Scholia
  16. Cazzola M, Malcovati L; ''Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.''; Hematology Am Soc Hematol Educ Program, 2015 PubMed Europe PMC Scholia
  17. Sassa S, Kappas A; ''Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone.''; J Clin Invest, 1983 PubMed Europe PMC Scholia
  18. Mazumdar I, Goswami K, Ali MS; ''Status of Serum Calcium, Vitamin D and Parathyroid Hormone and Hematological Indices Among Lead Exposed Jewelry Workers in Dhaka, Bangladesh.''; Indian J Clin Biochem, 2017 PubMed Europe PMC Scholia
  19. Stein PE, Badminton MN, Rees DC; ''Update review of the acute porphyrias.''; Br J Haematol, 2017 PubMed Europe PMC Scholia
  20. Fujiwara T, Harigae H; ''Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.''; Free Radic Biol Med, 2019 PubMed Europe PMC Scholia
  21. Mani MS, Kabekkodu SP, Joshi MB, Dsouza HS; ''Ecogenetics of lead toxicity and its influence on risk assessment.''; Hum Exp Toxicol, 2019 PubMed Europe PMC Scholia
  22. Kubota Y, Nomura K, Katoh Y, Yamashita R, Kaneko K, Furuyama K; ''Novel Mechanisms for Heme-dependent Degradation of ALAS1 Protein as a Component of Negative Feedback Regulation of Heme Biosynthesis.''; J Biol Chem, 2016 PubMed Europe PMC Scholia
  23. Dombeck TA, Satonik RC; ''The porphyrias.''; Emerg Med Clin North Am, 2005 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128214view03:29, 29 January 2024EweitzRefine legend
128213view03:26, 29 January 2024EweitzUse standard color, shape for disease
122351view09:11, 23 March 2022JuliajohnssonModified description
122275view11:30, 17 March 2022DeSlMoved legend to the side for layout purposes
122274view11:28, 17 March 2022DeSlUnified OMIM-links
122273view11:27, 17 March 2022DeSlUpdated description, removed old description comments.
122272view11:26, 17 March 2022DeSlchanged arrow from glycine to MIM_conversion
122271view11:25, 17 March 2022DeSlSmall layout changes to table, updated HMDB ID for glycine
122153view11:55, 14 March 2022JuliajohnssonBroke up the complex, minor layout changes.
122046view11:46, 9 March 2022JuliajohnssonAdded more litterature references.
122045view11:22, 9 March 2022JuliajohnssonChanged legend and added a disease.
122044view11:03, 9 March 2022JuliajohnssonAdded a legend.
122017view09:59, 9 March 2022JuliajohnssonChanged HMDB annotations to newer HMDB annotations.
121996view23:15, 8 March 2022JuliajohnssonChanged some annotations. Corrected one reference.
121995view22:39, 8 March 2022JuliajohnssonOntology Term : 'pathway' added !
121994view22:38, 8 March 2022JuliajohnssonOntology Term : 'erythropoietic protoporphyria' added !
121993view22:37, 8 March 2022JuliajohnssonOntology Term : 'sideroblastic anemia 1' added !
121992view22:33, 8 March 2022JuliajohnssonOntology Term : 'porphyria pathway' added !
121991view22:32, 8 March 2022JuliajohnssonOntology Term : 'porphyria' added !
121990view22:32, 8 March 2022JuliajohnssonOntology Term : 'hepatic porphyria pathway' added !
121989view22:32, 8 March 2022JuliajohnssonOntology Term : 'erythropoietic porphyria pathway' added !
121988view22:31, 8 March 2022JuliajohnssonOntology Term : 'acute porphyria' added !
121987view22:31, 8 March 2022JuliajohnssonOntology Term : 'cutaneous porphyria' added !
121986view22:31, 8 March 2022JuliajohnssonOntology Term : 'acute intermittent porphyria pathway' added !
121985view22:29, 8 March 2022JuliajohnssonOntology Term : 'heme biosynthetic pathway' added !
121984view22:28, 8 March 2022JuliajohnssonOntology Term : 'disease pathway' added !
121983view22:28, 8 March 2022JuliajohnssonOntology Term : 'inborn error of metabolism pathway' added !
121982view22:27, 8 March 2022JuliajohnssonModified description
121683view23:05, 24 February 2022JuliajohnssonModified description
121682view22:56, 24 February 2022JuliajohnssonAdded more litterature references.
121677view17:04, 24 February 2022JuliajohnssonAdded some litterature references.
121656view13:24, 23 February 2022JuliajohnssonAdded litterature to some diseases. Added alternative names to diseases.
121646view11:04, 23 February 2022JuliajohnssonOntology Term : 'inherited metabolic disorder' added !
121531view08:47, 21 February 2022JuliajohnssonTried to fix interactions
121529view08:37, 21 February 2022JuliajohnssonFixed interactions.
121528view08:18, 21 February 2022JuliajohnssonFixed interactions.
121475view16:06, 17 February 2022JuliajohnssonModified description
121474view16:06, 17 February 2022JuliajohnssonModified description
121473view16:04, 17 February 2022JuliajohnssonModified description
121463view15:41, 17 February 2022JuliajohnssonOntology Term : 'porphyria cutanea tarda' added !
121462view15:41, 17 February 2022JuliajohnssonOntology Term : 'DOID:13271' removed !
121461view15:40, 17 February 2022JuliajohnssonOntology Term : 'hepatoerythropoietic porphyria' added !
121460view15:40, 17 February 2022JuliajohnssonOntology Term : 'cutaneous porphyria' added !
121459view15:40, 17 February 2022JuliajohnssonOntology Term : 'acute intermittent porphyria' added !
121458view15:39, 17 February 2022JuliajohnssonOntology Term : 'hepatocyte' added !
121457view15:33, 17 February 2022JuliajohnssonModified description
121456view15:29, 17 February 2022JuliajohnssonAdded 2 new diseases.

Added one new OMIM link.

Added comments to some diseases.
121196view10:02, 11 February 2022JuliajohnssonChanged RHEA interaction identifiers to ones with a defined direction and added 2 new RHEA interactions. Changed shape of disease boxes. Added alternative names.
121164view10:38, 10 February 2022JuliajohnssonAdded the OMIM links to the diseases. Also added intermittents that were not there before. Changed the location of one metabolite.
121115view08:02, 9 February 2022JuliajohnssonNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ALADGeneProduct210 (Entrez Gene)
ALAS1GeneProduct211 (Entrez Gene)
ALAS2GeneProduct212 (Entrez Gene)
CPOXGeneProduct1371 (Entrez Gene)
Coproporphyrinogen IIIMetaboliteCHEBI:15439 (ChEBI)
FECHGeneProduct2235 (Entrez Gene)
GlycineMetaboliteHMDB00123 (HMDB)
HMBSGeneProduct3145 (Entrez Gene)
PPOXGeneProduct5498 (Entrez Gene)
PorphobilinogenMetaboliteCHEBI:17381 (ChEBI)
ProtohemeMetaboliteCHEBI:26355 (ChEBI)
Protoporphyrinogen IXMetaboliteCHEBI:15435 (ChEBI)
Succinyl-CoAMetaboliteHMDB01022 (HMDB)
URODGeneProduct7389 (Entrez Gene)
UROSGeneProduct7390 (Entrez Gene)
Uroporphyrinogen IIIMetaboliteCHEBI:15437 (ChEBI)
delta-aminolevulinic acidMetaboliteCHEBI:17549 (ChEBI)
hydroxymethylbilaneMetaboliteCHEBI:57845 (ChEBI)
protoporphyrin IXMetaboliteCHEBI:57306 (ChEBI)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5169"
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