CCDC47 Gene Summary [Human]

Enables protein folding chaperone and ribosome binding activity. Involved in ERAD pathway; endoplasmic reticulum calcium ion homeostasis; and protein insertion into ER membrane. Located in endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
CCDC47
Official Name
coiled-coil domain containing 47 [Source:HGNC Symbol;Acc:HGNC:24856]
Ensembl ID
ENSG00000108588
Bio databases IDs NCBI: 57003 Ensembl: ENSG00000108588
Aliases coiled-coil domain containing 47, Calumin
Synonyms 2610204L23RIK, asp4, calumin, coiled-coil domain containing 47, D13Mgi22, GK001, MSTP041, RGD1308813, THNS
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 CCDC47 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • PAT complex subunit CCDC47
  • calcium ion binding
  • ribosome binding
  • 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
  • trichohepatoneurodevelopmental syndrome
  • neonatal late-onset sepsis
regulated by
  • RYR1
  • mir-22 (includes others)
  • 144DG11
regulates
role in cell
  • apoptosis
  • cell viability
  • function
  • calcium homeostasis
  • organization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • Endoplasmic Reticulum
  • endoplasmic reticulum membrane
  • nuclear envelope
  • rough endoplasmatic reticulum

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CCDC47 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • post-embryonic development
  • osteoblast differentiation
  • protein insertion into ER membrane
  • endoplasmic reticulum calcium ion homeostasis
  • protein folding
  • ER overload response

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • rough endoplasmic reticulum membrane
  • membrane
  • endoplasmic reticulum

Molecular Function

What the gene product does at the molecular level
  • RNA binding
  • protein binding
  • protein binding involved in protein folding
  • ribosome binding
  • calcium ion binding

Gene-Specific Assays for Results You Can Trust

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