Fam83h Gene Summary [Mouse]

Predicted to enable keratin filament binding activity and protein kinase binding activity. Predicted to be involved in several processes, including intermediate filament cytoskeleton organization; positive regulation of cell migration; and protein localization to cytoskeleton. Predicted to be located in cytoplasm. Predicted to colocalize with keratin filament. Is expressed in lower jaw and tooth. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 3A. Orthologous to human FAM83H (family with sequence similarity 83 member H). [provided by Alliance of Genome Resources, Apr 2025]

Details

Type
Protein Coding
Official Symbol
Fam83h
Official Name
family with sequence similarity 83, member H [Source:MGI Symbol;Acc:MGI:2145900]
Ensembl ID
ENSMUSG00000046761
Bio databases IDs NCBI: 105732 Ensembl: ENSMUSG00000046761
Aliases family with sequence similarity 83, member H
Synonyms AI3, AI3A, family with sequence similarity 83 member H, family with sequence similarity 83, member H, FLJ46072, RGD1305866
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Fam83h often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • intermediate filament binding
  • protein kinase binding
  • FAM83 A-H
  • PLD-like domain
  • protein binding
  • Catalytic domain of phospholipase D superfamily proteins
  • Spt5 C-terminal nonapeptide repeat binding Spt4

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • amelogenesis imperfecta type IIIA
  • hypocalcification type amelogenesis imperfecta
regulated by
role in cell
  • migration
  • organization
  • 5-fluorouracil resistance

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytosol
  • keratin intermediate filaments

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Fam83h gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein localization to cytoskeleton
  • signal transduction
  • intermediate filament cytoskeleton organization
  • biomineral tissue development
  • positive regulation of cell migration

Cellular Component

Where in the cell the gene product is active
  • keratin filament
  • cytoplasm

Molecular Function

What the gene product does at the molecular level
  • protein kinase binding
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.