Protein PTHB1 - CISMeF

Preferred Label : Protein PTHB1;

NCIt synonyms : Bardet-Biedl Syndrome 9 Protein; PTH-Responsive Osteosarcoma B1 Protein; BBS9; Parathyroid Hormone-Responsive B1 Gene Protein;

NCIt definition : Protein PTHB1 (887 aa, 99 kDa) is encoded by the human BBS9 gene. This protein plays a role in cilium formation.;

Details

Origin ID

C114662;

UMLS CUI

C1175338;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 9 [DO Concept]
- Bardet-Biedl syndrome 9 [ORDO Gene]
- Bardet-biedl syndrome 9 [OMIM Phenotype]
- Parathyroid hormone-responsive b1 gene [OMIM gene]
OMIM relation
- Parathyroid hormone-responsive b1 gene [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- BBS9 protein, human [MeSH Supplementary Concept]
- BBS9 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
- BBS9 Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
gene_product_has_associated_anatomy
- Centrosome [NCIt concept]
- Cilium [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Surface Extension [NCIt concept]

Keyword's position in hierarchy(ies) :

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