KAZN Gene Summary [Human]

This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]

Details

Type
Protein Coding
Official Symbol
KAZN
Official Name
kazrin, periplakin interacting protein [Source:HGNC Symbol;Acc:HGNC:29173]
Ensembl ID
ENSG00000189337
Bio databases IDs NCBI: 23254 Ensembl: ENSG00000189337
Aliases kazrin, periplakin interacting protein
Synonyms 2310007B04Rik, 9030409G11Rik, C1orf196, FLJ43806, KAZ, Kazrin, kazrin, periplakin interacting protein, KIAA1026, RP1-21O18.1, THC2323059, W84167
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 KAZN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Sterile alpha motif
  • TPR/MLP1/MLP2-like protein
  • Autophagy protein 16 (ATG16)
  • Chromatin assembly factor 1 complex p150 subunit, N-terminal
  • Tropomyosin like
  • Ezrin/radixin/moesin, alpha-helical domain
  • SAM (Sterile alpha motif )
  • Transforming acidic coiled-coil-containing protein (TACC), C-terminal
  • SAM domain (Sterile alpha motif)
  • Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
  • protein binding
  • Domain of unknown function (DUF4200)

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • plasma cell myeloma
  • liver cancer
  • epithelial cancer
  • inflammatory bowel disease
  • Crohn disease
  • ulcerative colitis
  • Alzheimer disease
  • septic shock
  • nonalcoholic steatohepatitis
  • schizophrenia
regulated by
role in cell
  • cell viability
  • apoptosis
  • differentiation
  • morphology

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cornified envelope
  • cell borders
  • actin cytoskeleton
  • Nucleus
  • microtubules
  • desmosomes
  • cell-cell contacts
  • cytosol
  • apical membrane
  • nucleoplasm
  • nuclear speckles
  • microvilli

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • keratinization

Cellular Component

Where in the cell the gene product is active
  • cornified envelope
  • cytoskeleton
  • nuclear speck
  • cytosol
  • desmosome
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • 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.