Jouberin - CISMeF

Preferred Label : Jouberin;

NCIt synonyms : Abelson Helper Integration Site 1 Protein Homolog; AHI1; AHI-1;

NCIt definition : Jouberin (1196 aa, 14 kDa) is encoded by the human AHI1 gene. This protein is involved in embryonic development of the cerebellum and the formation of primary non-motile cilium.;

Details

Origin ID

C191906;

UMLS CUI

C1452821;

OMIM relation
- Abelson helper integration site 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- AHI1 protein, human [MeSH Supplementary Concept]
- AHI1 protein, human [MeSH concept]
gene_encodes_gene_product
- AHI1 Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
gene_product_has_associated_anatomy
- Basal Body [NCIt concept]
- Centriole [NCIt concept]
- Centrosome [NCIt concept]
- Cytoplasm [NCIt concept]
gene_product_has_structural_domain_or_motif
- Coiled-Coil Domain [NCIt concept]
- SH3 Domain [NCIt concept]
- WD Repeat [NCIt concept]
gene_product_plays_role_in_biological_process
- Intracellular Transport [NCIt concept]
- Microtubule Process [NCIt concept]
- Nervous System Development [NCIt concept]
- Neural Development [NCIt concept]
- Pattern Formation [NCIt concept]

Keyword's position in hierarchy(ies) :

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