CEP19 Gene Summary [Human]

The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]

Details

Type
Protein Coding
Official Symbol
CEP19
Official Name
centrosomal protein 19 [Source:HGNC Symbol;Acc:HGNC:28209]
Ensembl ID
ENSG00000174007
Bio databases IDs NCBI: 84984 Ensembl: ENSG00000174007
Aliases centrosomal protein 19
Synonyms 1500031L02Rik, C3orf34, centrosomal protein 19, MOSPGF, RGD621352
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 CEP19 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • CEP19-like 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
  • insulin resistance
  • obesity
  • weight gain
  • morbid obesity and spermatogenic failure
  • Bardet-Biedl syndrome
  • hyperphagia
regulated by
regulates
  • D-glucose
  • triacylglycerol
  • oxygen
  • RABL2A/B
role in cell
  • assembly

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
  • cilia
  • basal bodies
  • centrosome
  • centriole
  • cytosol
  • nucleoplasm
  • spindle pole

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CEP19 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cilium morphogenesis
  • microtubule anchoring at centrosome

Cellular Component

Where in the cell the gene product is active
  • centrosome
  • cilium basal body
  • centriole
  • cytoplasm
  • spindle pole
  • cilium
  • 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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