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Related Concept Videos

Protein Families02:47

Protein Families

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Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
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Gene Families01:57

Gene Families

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Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
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Protein Complexes with Interchangeable Parts01:57

Protein Complexes with Interchangeable Parts

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Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
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Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
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Conservation of Protein Domains Over Different Proteins02:26

Conservation of Protein Domains Over Different Proteins

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Protein domains are small structurally independent units that are part of a single amino acid chain.  Although these domains are often structurally independent, they may rely on synergistic effects to perform their functions as part of a larger protein. Protein domains may be conserved within the same organism, as well as across different organisms.
A limited set of protein domains often duplicate and recombine during evolution. These domains can be organized in different combinations to...
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Globular and Fibrous Proteins02:21

Globular and Fibrous Proteins

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Many proteins can be classified into two distinct subtypes - globular or fibrous. These two types differ in their shapes and solubilities.
Globular proteins are also known as spheroproteins and typically are approximately round in shape. They contain a mix of amino acid types and contain differing sequences in their primary structures. Globular proteins have many different functions, such as enzymes, cellular messengers, and molecular transporters. These roles often require the proteins to be...
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Related Experiment Video

Updated: Jun 4, 2025

Dissection of Hippocampal Dentate Gyrus from Adult Mouse
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Protein family FAM241 in human and mouse.

Quinlan Doctrove1,2, Young Park2, Daniel G Calame3,4

  • 1Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, 48109, USA.

Mammalian Genome : Official Journal of the International Mammalian Genome Society
|December 23, 2024
PubMed
Summary

The FAM241B protein, identified in a screen for enlarged lysosomes, has an unknown function despite its ancient origins and wide expression. Gene knockouts in mice showed no visible phenotype, but altered gene expression was observed.

Keywords:
EvolutionGene familyLysosomeMouse knockout

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Area of Science:

  • Cell Biology
  • Genetics
  • Evolutionary Biology

Background:

  • The FAM241B protein belongs to the FAM241 family, characterized by a conserved domain of unknown function (DUF4605).
  • This protein family originated before fish and is present across vertebrates, with FAM241B notably absent in birds.

Purpose of the Study:

  • To investigate the function of the FAM241B protein and its family members.
  • To explore the evolutionary history and expression patterns of FAM241A and FAM241B.

Main Methods:

  • Genome-wide inactivation screening
  • Phylogenetic analysis
  • Gene knockout studies in mice (Fam241a, Fam241b, double knockout)
  • RNA sequencing (RNAseq) of mouse brain tissue
  • Analysis of a human patient variant (p.Val115Gly)

Main Results:

  • FAM241A and FAM241B are widely expressed in mouse tissues.
  • Experimental knockout of Fam241a and Fam241b, individually or together, did not result in observable phenotypes in mice.
  • Knockout of Fam241A and Fam241B did not worsen the phenotype of FIG4 null mice.
  • RNAseq revealed reduced expression of specific genes, including Arke1e1 and RnaseL, in the brains of double knockout mice.
  • A human FAM241B variant (p.Val115Gly) was found in a patient with developmental delay, though their fibroblasts showed normal lysosome morphology.

Conclusions:

  • The precise molecular function of the ancient FAM241 protein family remains undetermined.
  • Despite evolutionary conservation and expression, FAM241A and FAM241B do not appear to have essential roles detectable by standard knockout phenotypes in mice.
  • Further research is needed to elucidate the biological roles of FAM241 proteins, potentially involving interactions with endoplasmic reticulum proteins or roles in specific developmental contexts.