KHDC3L Gene Summary [Human]
The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | KHDC3L |
| Official Name | KH domain containing 3 like, subcortical maternal complex member [Source:HGNC Symbol;Acc:HGNC:33699] |
| Ensembl ID | ENSG00000203908 |
| Bio databases IDs | |
| Aliases | KH domain containing 3 like, subcortical maternal complex member, ES cell associated transcript 1 |
| Synonyms | 2410004A20Rik, C6orf221, ECAT1, FILIA, HYDM2, Khdc3, KH domain containing 3 like, subcortical maternal complex member, KH domain containing 3, subcortical maternal complex member, OEEP48, RGD1311617 |
| Species | Human, Homo sapiens |
| Orthologies |
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 KHDC3L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- K homology (KH) RNA-binding domain, type I
- KH-like RNA-binding domain
- protein binding
- structural molecule
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- recurrent hydatidiform mole type 2
- global developmental delay with intellectual disability
- familial recurrent hydatidiform mole
role in cell
- apoptosis
- organization
- development
- spindle checkpoint
- assembly
- processing
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
- organelle
- cell cortex
- Nucleus
- centrosome
- Mitochondria
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KHDC3L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of protein localization
- negative regulation of apoptotic process
- actin filament organization
- replication fork processing
- positive regulation of neurogenesis
- positive regulation of double-strand break repair
- positive regulation of embryonic development
- positive regulation of dendrite development
- establishment of organelle localization
Cellular Component
Where in the cell the gene product is active
- nucleus
- centrosome
- cytoplasm
- cell cortex
- mitochondrion
- macromolecular complex
- chromosome
Molecular Function
What the gene product does at the molecular level
- RNA binding
- protein binding