CCDC103 Gene Summary [Human]

Enables protein homodimerization activity. Involved in axonemal dynein complex assembly; cilium movement; and determination of left/right symmetry. Predicted to be located in axoneme. Predicted to be part of outer dynein arm. Implicated in primary ciliary dyskinesia 17. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
CCDC103
Official Name
coiled-coil domain containing 103 [Source:HGNC Symbol;Acc:HGNC:32700]
Ensembl ID
ENSG00000167131
Bio databases IDs NCBI: 388389 Ensembl: ENSG00000167131
Aliases coiled-coil domain containing 103
Synonyms 1700039D13RIK, 4933439F11Rik, CCDC103, CILD17, coiled-coil domain containing 103, dynein axonemal assembly factor 19, LOC100042500, LOC100045630, PR46b, RGD1562370, Riken cDNA 1700039d13, SMH
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 CCDC103 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein homodimerization
  • coiled-coil domain
  • protein binding
  • Potential Monad-binding region of RPAP3
  • Dynein attachment factor N-terminus

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • primary ciliary dyskinesia type 17
  • primary ciliary dyskinesia
regulates
  • Axonemal Dynein Outer Arm
  • Axonemal Dynein Inner Arm
  • Axonemal Dynein
role in cell
  • movement

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
  • axonemes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CCDC103 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • epithelial cilium movement involved in determination of left/right asymmetry
  • outer dynein arm assembly
  • determination of digestive tract left/right asymmetry
  • axonemal dynein complex assembly
  • heart looping
  • epithelial cilium movement
  • cilium movement
  • inner dynein arm assembly
  • determination of left/right symmetry

Cellular Component

Where in the cell the gene product is active
  • motile cilium
  • outer dynein arm
  • cytoplasm
  • extracellular region
  • axoneme

Molecular Function

What the gene product does at the molecular level
  • protein homodimerization activity
  • protein binding

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