GIPC1 wt Allele

Preferred Label : GIPC1 wt Allele;

NCIt synonyms : GIPC PDZ Domain Containing Family Member 1 wt Allele; GLUT1 C-Terminus-Binding Protein Gene; Chromosome 19 Open Reading Frame 3 Gene; SYNECTIN; GLUT1 C-Terminal Binding Protein Gene; NIP; GIPC PDZ Domain Containing Family, Member 1 Gene; Regulator of G-Protein Signaling 19 Interacting Protein 1 Gene; Hs.6454; RGS19IP1; GLUT1CBP; OPDM2; IIP-1; GIPC; SEMCAP; C19orf3; TIP-2; IGF-1 Receptor Interacting Protein 1 Gene;

NCIt definition : Human GIPC1 wild-type allele is located in the vicinity of 19p13.12 and is approximately 18 kb in length. This allele, which encodes PDZ domain-containing protein GIPC1, may be involved in the upregulation of G protein-coupled receptor signaling via modulation of protein trafficking. Mutations in the gene are associated with oculopharyngodistal myopathy 2.;

GenBank Accession Number : AF089816;

Details

Origin ID

C201661;

OMIM relation
- Gipc pdz domain-containing family, member 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.12 [NCIt concept]
gene_is_element_in_pathway
- Neurotrophic Factor-Mediated NTRK1 Signaling Pathway [NCIt concept]
- Syndecan-4-Mediated Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

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