9Y07

Cryo-EM structure of human VCP/p97-T122P mutant bound to ATPgammaS

Summary for 9Y07

• Entry DOI: 10.2210/pdb9y07/pdb
• EMDB information: 72387
• Descriptor: Transitional endoplasmic reticulum ATPase, PHOSPHOTHIOPHOSPHORIC ACID-ADENYLATE ESTER, MAGNESIUM ION (3 entities in total)
• Functional Keywords: aaa atpase, unfoldase, erad, hydrolase
• Biological source: Homo sapiens (human)
• Total number of polymer chains: 6
• Total formula weight: 554021.41

Authors

Lehman, A.,Ahmed, S.,Mohajeri, A.,Yang, G.X.,Berezuk, A.M.,Mannar, D.,Cholak, S.,Tuttle, K.S.,Bennett, J.T.,Magno, J.A.,Hannibal, M.,Kovacevic, G.,Kuburovic, V.,Lewis, M.E.S.,Moldovan, O.,Nelson, Z.,Raskin, S.,Vandersteen, A.M.,Roach, J.C.,Subramaniam, S.,Patel, M.S. (deposition date: 2025-08-28, release date: 2026-04-29)

Primary citation

Lehman, A.,Ahmed, S.,Mohajeri, A.,Berezuk, A.M.,Mannar, D.,Cholak, S.,Tuttle, K.S.,Bennett, J.T.,Aparecida Magno, J.,Hannibal, M.,Kovacevic, G.,Kuburovic, V.,Suzanne Lewis, M.E.,Moldovan, O.,Nelson, Z.,Raskin, S.,Vandersteen, A.M.,Roach, J.C.,Subramaniam, S.,Patel, M.S.
Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension.
Genet Med, :102579-102579, 2026

PubMed Abstract: Adams-Oliver syndrome (AOS) is a genetically heterogeneous disorder with cardinal features of aplasia cutis congenita and terminal limb reduction defects. A minority of individuals with AOS develop potentially lethal pulmonary hypertension (PH) in infancy, a subgroup that has been refractory to genetic explanation.

PubMed: 41979051
DOI: 10.1016/j.gim.2026.102579

Experimental method

ELECTRON MICROSCOPY (2.41 Å)