ARMC5 Gene Summary [Human]

This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

Details

Type
Protein Coding
Official Symbol
ARMC5
Official Name
armadillo repeat containing 5 [Source:HGNC Symbol;Acc:HGNC:25781]
Ensembl ID
ENSG00000140691
Bio databases IDs NCBI: 79798 Ensembl: ENSG00000140691
Aliases armadillo repeat containing 5
Synonyms AIMAH2, armadillo repeat containing 5
Species
Human, Homo sapiens
OrthologiesMouseRat

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 human ARMC5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • BTB_POZ
  • protein binding activity, bridging
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • ACTH-independent macronodular adrenal hyperplasia type 2
  • Cushing syndrome due to adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia
regulated by
  • vaccinia virus
regulates
role in cell
  • expression in
  • proliferation
  • differentiation
  • degradation in
  • tanespimycin sensitivity
  • hematopoiesis
  • pladienolide B sensitivity

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
  • cellular membrane
  • focal adhesions
  • Nucleus
  • cytosol
  • nucleoplasm
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ARMC5 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • in utero embryonic development
  • T cell proliferation
  • adrenal cortex development
  • defense response to virus
  • CD4-positive, alpha-beta T cell differentiation
  • anatomical structure morphogenesis
  • mesoderm formation
  • regulation of steroid biosynthetic process

Cellular Component

Where in the cell the gene product is active
  • focal adhesion
  • cytoplasm
  • membrane
  • cytosol
  • nucleoplasm

Molecular Function

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

Gene-Specific Assays for Results You Can Trust

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