Protein patched homolog 1

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== Function ==
== Function ==
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'''Protein patched homolog 1''' (Ptch1) acts as receptor of sonic hedgehog protein <ref>PMID:2108161</ref>.
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'''Protein patched homolog 1''' (Ptch1) acts as receptor of [[Sonic Hedgehog]] protein (Shh) which is involved in formation of embryonic structures <ref>PMID:11001584</ref>. Embryogenesis is regulated by several pathways one of which is the Shh-Patch1-Gli all of which are highly conserved.
== Disease ==
== Disease ==
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Mutations in DHS result in reduced enzyme activity that limit the hypusination of elf5A which is associated with neurodevelopmental disorder<ref>PMID:30661771</ref>.
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Mutations in Ptch1 are associated with holoprosencephaly<ref>PMID:11941477</ref>.
==Relevance ==
==Relevance ==

Revision as of 09:42, 6 February 2021

Human deoxypusine synthase with mercaptocysteine complex with spermidine, ethylene glycol, formate, acetate, mercaptoethanol, MPD (PDB code 6xxk)

Drag the structure with the mouse to rotate

3D Structures of protein patched homolog 1

Updated on 06-February-2021

Domains: ectodomain 1 139-428; ectodomain 2 772-1023

6dmb, 6oeu – hPtch1 – human - Cryo EM
6dmo – hPtch1 (mutant) - Cryo EM
6rvd – hPtch1 + sonic hedgehog protein - Cryo EM
6dmy, 6e1h, 6n7g, 6n7h, 6n7k, 6oev, 6rmg – hPtch1/GFP + sonic hedgehog protein - Cryo EM
6rtx – hPtch1 ectodomain 1
6rty – hPtch1 ectodomain 1 + nanobody
6rtw – hPtch1 ectodomain 1 + nanobody + cholesterol derivative
6rvc – hPtch1 ectodomain 2 + nanobody
6mg8 – Ptch1 + ligand – mouse - Cryo EM


References

  1. ↑ Villavicencio EH, Walterhouse DO, Iannaccone PM. The sonic hedgehog-patched-gli pathway in human development and disease. Am J Hum Genet. 2000 Nov;67(5):1047-54. doi: 10.1016/S0002-9297(07)62934-6. Epub , 2000 Sep 21. PMID:11001584 doi:http://dx.doi.org/10.1016/S0002-9297(07)62934-6
  2. ↑ Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet. 2002 Apr;110(4):297-301. doi: 10.1007/s00439-002-0695-5. Epub 2002 Mar, 2. PMID:11941477 doi:http://dx.doi.org/10.1007/s00439-002-0695-5
  3. ↑ Jeng KS, Sheen IS, Jeng WJ, Lin CC, Lin CK, Su JC, Yu MC, Fang HY. High expression of patched homolog-1 messenger RNA and glioma-associated oncogene-1 messenger RNA of sonic hedgehog signaling pathway indicates a risk of postresection recurrence of hepatocellular carcinoma. Ann Surg Oncol. 2013 Feb;20(2):464-73. doi: 10.1245/s10434-012-2593-y. Epub 2012 , Aug 22. PMID:22911366 doi:http://dx.doi.org/10.1245/s10434-012-2593-y
  4. ↑ Wator E, Wilk P, Grudnik P. Half Way to Hypusine-Structural Basis for Substrate Recognition by Human Deoxyhypusine Synthase. Biomolecules. 2020 Mar 30;10(4). pii: biom10040522. doi: 10.3390/biom10040522. PMID:32235505 doi:http://dx.doi.org/10.3390/biom10040522

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Alexander Berchansky, Michal Harel

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