KNL1 wt Allele

Preferred Label : KNL1 wt Allele;

NCIt synonyms : Blinkin, Bub-Linking Kinetochore Protein Gene; hSpc105; Spc7; KIAA1570; AF15Q14; D40; MCPH4; hKNL-1; Kinetochore Null 1 Homolog (C. elegans) Gene; Kinetochore Scaffold 1 wt Allele; CT29; Cancer/Testis Antigen 29 Gene; PPP1R55; Cancer Susceptibility Candidate 5 Gene; ALL1-Fused Gene from Chromosome 15q14; CASC5; Microcephaly, Primary Autosomal Recessive 4 Gene; Protein Phosphatase 1, Regulatory Subunit 55 Gene;

NCIt definition : Human KNL1 wild-type allele is located in the vicinity of 15q15.1 and is approximately 70 kb in length. This allele, which encodes kinetochore scaffold 1 protein, plays a role in both signaling in mitosis and chromosome alignment. The gene is involved in a translocation t(11;15)(q23;q14) with the KMT2A (MLL) gene that is associated with acute myeloblastic leukemia. Mutations in this gene are associated with autosomal recessive primary microcephaly 4.;

GenBank Accession Number : AF173994;

Details

Origin ID

C97379;

UMLS CUI

C3273384;

OMIM relation
- Kinetochore scaffold 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Mitotic Sister Chromatid Cohesion [NCIt concept]
- Mitotic/Spindle Checkpoint [NCIt concept]
- Prometaphase [NCIt concept]

Keyword's position in hierarchy(ies) :

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