Disks Large Homolog 1

Preferred Label : Disks Large Homolog 1;

NCIt synonyms : SAP-97; hDlg; Synapse-Associated Protein 97; SAP97; Presynaptic Protein SAP97; Presynaptic Protein-SAP97;

NCIt definition : Disks large homolog 1 (904 aa, 100 kDa) is encoded by the human DLG1 gene. This protein plays a role in protein localization.;

NCIt note : Disks large homolog 1 has several isoforms. This protein is a putative kinase that appears to regulate protein targeting and contains one SH3, one Guanylate Kinase-like, and three PDZ/DHR domains. DLG1 binds to membrane cytoskeletal protein 4.1 (EPB41) and to KIF13B, and interacts with the KCNAB1 channel as well as the cytoplasmic tail of NMDA receptor subunits. LCK interacts with the proline-rich N-terminal domain of DLG1. Interacting with actin-binding ezrin, SAP97 is also involved in cell shape morphogenesis.;

Details

Origin ID

C29569;

UMLS CUI

C1442790;

OMIM relation
- Discs large maguk scaffold protein 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- DLG1 protein, human [MeSH Supplementary Concept]
- DLG1 protein, human [MeSH concept]
gene_encodes_gene_product
- DLG1 Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
gene_product_has_structural_domain_or_motif
- PDZ Domain [NCIt concept]
- SH3 Domain [NCIt concept]
gene_product_is_element_in_pathway
- Synaptic Junction Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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