EP300 wt Allele

Preferred Label : EP300 wt Allele;

NCIt synonyms : p300; E1A Binding Protein p300 wt Allele; KAT3B; RP1-85F18.1; RSTS2;

NCIt definition : Human EP300 wild-type allele is located in the vicinity of 22q13.2 and is approximately 88 kb in length. This allele, which encodes the histone acetyltransferase p300 protein, is involved in both cyclic-AMP driven transcriptional activation and the cellular response to hypoxia.;

GenBank Accession Number : NM_001429;

Details

Origin ID

C52127;

UMLS CUI

C1705458;

Automatic exact mappings (from CISMeF team)
- E1A binding protein p300 [ORDO Gene]
- E1a-binding protein, 300-kd [OMIM gene]
- P-300 [MeSH concept]
- P-300 [MeSH Supplementary Concept]
OMIM relation
- E1a-binding protein, 300-kd [OMIM gene]
See also inter- (CISMeF)
- Rubinstein-taybi syndrome 2 [OMIM Phenotype]
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_has_physical_location
- 22: 39812290-39900045 [NCIt concept]
gene_in_chromosomal_location
- 22q13.2 [NCIt concept]
gene_is_element_in_pathway
- ATF-2 Transcription Factor Signaling Pathway [NCIt concept]
- Adherens Junction Assembly Pathway [NCIt concept]
- CARM1 Transcription Regulation Pathway [NCIt concept]
- Cell Cycle Pathway [NCIt concept]
- ERBB2 Signaling Pathway [NCIt concept]
- Estrogen Receptor Regulation by CARM1 Pathway [NCIt concept]
- G2/M Checkpoint Pathway [NCIt concept]
- Gene Expression Regulation by Vitamin D Receptor Pathway [NCIt concept]
- HDAC Class III Signaling Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Hypoxia Pathway [NCIt concept]
- Hypoxia-Inducible Factor Pathway [NCIt concept]
- IL7 Signaling Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
- Long-Term Potentiation Pathway [NCIt concept]
- Melanocyte Development Pathway [NCIt concept]
- Melanogenesis Pathway [NCIt concept]
- NFKB Activation Pathway [NCIt concept]
- Notch Signaling Pathway [NCIt concept]
- Obesity and Thermogenesis Pathway [NCIt concept]
- PPAR-alpha Gene Regulation Pathway [NCIt concept]
- Pancreatic Cancer Pathway [NCIt concept]
- Pelp1 Estrogen Receptor Pathway [NCIt concept]
- Pitx2 Transcription Regulation Pathway [NCIt concept]
- RELA Pathway [NCIt concept]
- Renal Cell Carcinoma Pathway [NCIt concept]
- T-Cell Apoptosis Pathway [NCIt concept]
- TGF Beta Signaling Pathway BioCarta [NCIt concept]
- TGF-beta Signaling Pathway KEGG [NCIt concept]
- Wnt Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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