GEMIN7 Gene Summary [Human]

The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
GEMIN7
Official Name
gem nuclear organelle associated protein 7 [Source:HGNC Symbol;Acc:HGNC:20045]
Ensembl ID
ENSG00000142252
Bio databases IDs NCBI: 79760 Ensembl: ENSG00000142252
Aliases gem nuclear organelle associated protein 7
Synonyms 2400008I04Rik, gem (nuclear organelle) associated protein 7, gem nuclear organelle associated protein 7, SIP3
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 GEMIN7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Sm and related proteins
  • protein binding
  • Gem-associated protein 7 (Gemin7)

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Alzheimer disease
regulated by
regulates
role in cell
  • expression in
  • splicing by
  • assembly 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.
  • Nucleus
  • Cytoplasm
  • cytosol
  • gems
  • nucleoplasm
  • nuclear bodies

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human GEMIN7 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • spliceosomal snRNP assembly
  • nuclear mRNA splicing, via spliceosome

Cellular Component

Where in the cell the gene product is active
  • nuclear body
  • cytoplasm
  • SMN-Sm protein complex
  • cytosol
  • SMN complex
  • nucleoplasm

Molecular Function

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

Gene-Specific Assays for Results You Can Trust

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