CEP152 Gene Summary [Human]

This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

Details

Type
Nonsense Mediated Decay
Official Symbol
CEP152
Official Name
centrosomal protein 152 [Source:HGNC Symbol;Acc:HGNC:29298]
Ensembl ID
ENSG00000103995
Bio databases IDs NCBI: 22995 Ensembl: ENSG00000103995
Aliases centrosomal protein 152, asterless
Synonyms centrosomal protein 152, LOC102555758, MCPH4, MCPH9, mKIAA0912, RGD1305348, SCKL5
Species
Human, Homo sapiens
OrthologiesMouse

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 CEP152 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Alpha helical coiled-coil rod protein (HCR)
  • RecF/RecN/SMC N terminal domain
  • chromosome segregation protein SMC, common bacterial type
  • exonuclease SbcC
  • protein kinase binding
  • Synaptonemal complex protein 1 (SCP-1)
  • helix-rich Mycoplasma protein
  • 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 primary microcephaly type 9
  • Seckel syndrome
  • Seckel syndrome 5
  • hereditary disorder
  • microcephaly with or without short stature
role in cell
  • replication
  • duplication

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
  • pericentriolar matrix
  • organelle
  • basal bodies
  • centrosome
  • centriole
  • cytosol
  • nucleoplasm
  • nuclear bodies
  • pro-centriole

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CEP152 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • centriole replication
  • centrosome duplication
  • cell projection organization

Cellular Component

Where in the cell the gene product is active
  • pericentriolar material
  • centrosome
  • centriole
  • cytosol
  • nucleoplasm

Molecular Function

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

Gene-Specific Assays for Results You Can Trust

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