ITSN1 wt Allele

Preferred Label : ITSN1 wt Allele;

NCIt synonyms : SH3D1A; SH3P17; Human Intersectin-SH3 Domain-Containing Protein SH3P17 Gene; Intersectin 1 (SH3 Domain Protein) wt Allele; ITSN;

NCIt definition : Human ITSN1 wild-type allele is located within 21q22.1-q22.2 and is approximately 257 kb in length. This allele, which encodes intersectin-1 protein, is involved in both vesicle endocytosis and small GTPase-mediated signaling.;

NCIt note : There is evidence for multiple transcript variants for this gene encoding different isoforms. However, only two full-length isoforms have been characterized. (EntrezGene);

GenBank Accession Number : AF064244;

Details

Origin ID

C105658;

UMLS CUI

C3815274;

Automatic exact mappings (from CISMeF team)
- Intersectin 1 [OMIM gene]
OMIM relation
- Intersectin 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_is_element_in_pathway
- Ephrin B Forward Signaling Pathway [NCIt concept]
- Internalization Pathway for Epidermal Growth Factor Receptor [NCIt concept]
gene_plays_role_in_process
- Endocytotic 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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