MCPH1 Gene Summary [Human]
This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | MCPH1 |
| Official Name | microcephalin 1 [Source:HGNC Symbol;Acc:HGNC:6954] |
| Ensembl ID | ENSG00000147316 |
| Bio databases IDs | |
| Aliases | microcephalin 1, BRCT-repeat inhibitor of TERT expression 1 |
| Synonyms | 5430437K10Rik, BRIT1, D030046N04RIK, FLJ12847, MCT, microcephalin 1, microcephaly, primary autosomal recessive 1, RGD1560642, Tg(HLA-A2.1)1Enge |
| 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 MCPH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- BRCT
- Microcephalin protein
- twin BRCT domain
- BRCA1 C Terminus (BRCT) domain
- BRCT domain, a BRCA1 C-terminus domain
- protein binding
- breast cancer carboxy-terminal domain
- identical protein binding
- BRCT-like domain
- phosphorylation site
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive primary microcephaly type 1
- familial breast carcinoma
- breast carcinoma
- familial breast cancer
- familial ovarian cancer
- infertility condition
- hearing loss
- microcephaly
- leukopenia
- renal cancer
role in cell
- S phase checkpoint control
- apoptosis
- breakage
- proliferation
- differentiation
- number
- activation in
- binding in
- production
- chromosome condensation
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
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MCPH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- establishment of mitotic spindle orientation
- regulation of inflammatory response
- cerebral cortex development
- protein localization to centrosome
- regulation of centrosome cycle
- neuronal stem cell maintenance
- mitotic cell cycle
- regulation of chromosome condensation
- bone development
Cellular Component
Where in the cell the gene product is active
- centrosome
- cytoplasm
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding