LOC108348128 Gene Summary [Rat]

This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Details

Type
Protein Coding
Official Symbol
LOC108348128
Official Name
nesprin-4 [Source:RGD Symbol;Acc:11504732]
Ensembl ID
ENSRNOG00000020830
Bio databases IDs NCBI: 108348128 NCBI: 292781 Ensembl: ENSRNOG00000020830
Aliases nesprin-4
Synonyms 0610012K07Rik, C19orf46, DFNB76, KASH4, LOC108348128, Nesp4, RGD1304580, spectrin repeat containing nuclear envelope family member 4, spectrin repeat containing, nuclear envelope family member 4, Syne4l1
Species
Rat, Rattus norvegicus
OrthologiesHumanMouse

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 rat Loc108348128 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • SPEC
  • Spectrin repeats
  • 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
  • autosomal recessive deafness type 76
  • familial nonsyndromic hearing impairment
regulated by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • outer nuclear membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the rat Loc108348128 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • establishment of epithelial cell apical/basal polarity

Cellular Component

Where in the cell the gene product is active
  • nuclear outer membrane
  • SUN-KASH complex

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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