CEP112 Gene Summary [Human]

This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Details

Type
Protein Coding
Official Symbol
CEP112
Official Name
centrosomal protein 112 [Source:HGNC Symbol;Acc:HGNC:28514]
Ensembl ID
ENSG00000154240
Bio databases IDs NCBI: 201134 Ensembl: ENSG00000154240
Aliases centrosomal protein 112
Synonyms 1700001M19RIK, 1700029K01Rik, 8430407H02Rik, CCDC46, centrosomal protein 112, MACOCO, RGD1564168, SPGF44
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 CEP112 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Mitotic checkpoint protein
  • chromosome segregation protein SMC, common bacterial type
  • RIM-binding protein of the cytomatrix active zone
  • chromosome segregation protein SMC, primarily archaeal type
  • exonuclease SbcC
  • Synaptonemal complex protein 1 (SCP-1)
  • Domain of unknown function (DUF4485)
  • helix-rich Mycoplasma protein
  • protein binding
  • Calcium binding and coiled-coil domain (CALCOCO1) like
  • Septation ring formation regulator, EzrA

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • spermatogenic failure 44
  • male pattern hair loss
  • endometriosis
  • vertigo
  • attention deficit hyperactivity disorder
regulated by
regulates
role in cell
  • molecular cleavage in

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
  • Plasma Membrane
  • centrosome
  • synapse

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CEP112 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • receptor localization to synapse

Cellular Component

Where in the cell the gene product is active
  • inhibitory synapse
  • centrosome
  • cytoplasm
  • plasma membrane

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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