MAPKBP1 wt Allele

Preferred Label : MAPKBP1 wt Allele;

NCIt synonyms : JNKBP-1; JNKBP1; Mitogen-Activated Protein Kinase Binding Protein 1 wt Allele; KIAA0596; Mitogen Activated Protein Kinase Binding Protein 1 Gene; NPHP20;

NCIt definition : Human MAPKBP1 wild-type allele is located in the vicinity of 15q15.1 and is approximately 53 kb in length. This allele, which encodes mitogen-activated protein kinase-binding protein 1, is involved in the regulation of protein interactions in the Jun kinase signaling pathway. Mutation of the gene is associated with nephronophthisis 20.;

NCI Metathesaurus CUI : CL1794068;

GenBank Accession Number : AB011168;

Details

Origin ID

C188806;

UMLS CUI

C5702709;

OMIM relation
- Mitogen-activated protein kinase-binding protein 1 [OMIM gene]
See also inter- (CISMeF)
- Nephronophthisis 20 [OMIM Phenotype]
- nephronophthisis 20 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Mitogen-activated protein kinase-binding protein 1 [OMIM gene]
- mitogen-activated protein kinase binding protein 1 [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Negative Regulation of Inflammatory Response Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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