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Related Concept Videos

ABC Transporters: Importer01:27

ABC Transporters: Importer

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ATP-binding cassette or ABC transporters are a class of ATP-driven pumps that hydrolyze ATP to move solutes across the membrane. They can be grouped into importers and exporters. While exporters are present in all domains of life, importers exist only in bacteria and some plants.
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ABC Transporters: Exporter01:31

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ATP-binding cassette or ABC transporter is the largest superfamily of integral membrane proteins. The transporters have transmembrane-binding domains (TMDs) and nucleotide-binding domains (NBDs). The TMDs are specific to their substrates, whereas the NBDs are similar to engines that complete ATP hydrolysis to complete the substrate transport. They can be full transporters consisting of two TMDs and NBDs, half transporters with one TMD and NBD, while some encoded with a single TMD or NBD are...
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Histone Variants at the Centromere02:30

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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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Membrane Asymmetry Regulating Transporters01:19

Membrane Asymmetry Regulating Transporters

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Enzymes like flippase, floppase, and scramblase transfer phospholipids from one layer to another in the membrane, thereby affecting membrane asymmetry.
Flippase
Eukaryotic flippases are type-IV P-type ATPases or P4-ATPases belonging to P-type ATPase family proteins that are membrane-bound pumps involved in the ATP-mediated transport of ions and molecules across the membrane. Flippases flip specific phospholipids from the outer to the inner leaflet of a membrane. All P4-ATPases have one...
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Allosteric Proteins-ATCase01:19

Allosteric Proteins-ATCase

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Binding sites linkages can regulate a protein's function.  For example, enzyme activity is often regulated through a feedback mechanism where the end product of the biochemical process serves as an inhibitor.
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to  N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis...
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Conserved Binding Sites01:49

Conserved Binding Sites

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Many proteins’ biological role depends on their interactions with their ligands, small molecules that bind to specific locations on the protein known as ligand-binding sites. Ligand-binding sites are often conserved among homologous proteins as these sites are critical for protein function.
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Related Experiment Video

Updated: Oct 17, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Structure-Based Understanding of ABCA3 Variants.

Marion Onnée1, Pascale Fanen1,2, Isabelle Callebaut3

  • 1Institut Mondor de Recherche Biomédicale, Université Paris Est Creteil, F-94010 Créteil, France.

International Journal of Molecular Sciences
|October 13, 2021
PubMed
Summary

Understanding ABCA3 protein variants is vital for diagnosing rare lung diseases. This study models the ABCA3 structure, pinpointing key areas affected by mutations to aid genetic counseling and patient care.

Keywords:
3D modelingABCA3mutationnucleotide-binding domain (NBD)regulatory domain (RD)

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Area of Science:

  • Biochemistry
  • Genetics
  • Structural Biology

Background:

  • ABCA3 protein is essential for pulmonary surfactant production.
  • Mutations in ABCA3 cause severe inherited lung disorders like neonatal respiratory distress.
  • Accurate variant interpretation is crucial for genetic counseling and clinical management.

Purpose of the Study:

  • To create a high-resolution 3D structural model of the human ABCA3 transporter.
  • To map known pathogenic missense variants onto the ABCA3 model.
  • To identify critical amino acid residues and regions involved in ABCA3 structure and function.

Main Methods:

  • Utilized the experimental structure of human ABCA4 to model human ABCA3 at atomic resolution.
  • Included transmembrane domains (TMDs), nucleotide-binding domains (NBDs), and regulatory domains (RDs) in an ATP-bound conformation.
  • Mapped known pathogenic missense variants onto the generated 3D ABCA3 model.

Main Results:

  • Identified key amino acids within NBDs, RDs, and NBD-TMD interfaces crucial for ABCA3 transporter structure and function.
  • Highlighted the potential impact of ABCA3 variants in the protein's cytosolic region.
  • Provided a structural basis for understanding the pathogenicity of specific ABCA3 variants like p.Glu292Val and p.Arg288Lys.

Conclusions:

  • The 3D ABCA3 structural model provides a valuable tool for interpreting genetic variants.
  • This structural insight aids in understanding the molecular mechanisms underlying ABCA3-related pulmonary disorders.
  • The study enhances bioinformatics resources for medical decision-making in genetic diagnostics.