Microcephalin - CISMeF

Preferred Label : Microcephalin;

NCIt synonyms : MCPH1;

NCIt definition : Microcephalin (835 aa, 93 kDa) is encoded by the human MCPH1 gene. This protein plays a role in both cell cycle regulation and neuronal development.;

Details

Origin ID

C114570;

UMLS CUI

C1138529;

Automatic exact mappings (from CISMeF team)
- Microcephalin 1 [OMIM gene]
- Microcephaly 1, primary, autosomal recessive [OMIM Phenotype]
- microcephalin 1 [ORDO Gene]
- primary autosomal recessive microcephaly 1 [DO Concept]
OMIM relation
- Microcephalin 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- MCPH1 protein, human [MeSH Supplementary Concept]
- MCPH1 protein, human [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Cell Cycle Gene [NCIt concept]
- MCPH1 Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
gene_product_has_associated_anatomy
- Centrosome [NCIt concept]
gene_product_has_biochemical_function
- Regulatory Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- BRCT Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Cycle Regulation Process [NCIt concept]
- Mitosis [NCIt concept]
- Neural Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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