AQP1 wt Allele

Preferred Label : AQP1 wt Allele;

NCIt synonyms : CO; CHIP28; Channel-Like Integral Membrane Protein, 28-kD Gene; Channel-Like Integral Membrane Protein, 28-kDa Gene; AQP-CHIP; Aquaporin 1, Colton Blood Group Antigen Gene; Colton Blood Group Antigen Gene; Aquaporin 1 (Channel-Forming Integral Protein, 28kDa, CO Blood Group) Gene; Aquaporin 1 (Colton Blood Group) wt Allele; Aquaporin 1 Gene; Colton Blood Group Gene; Aquaporin 1 (Channel-Forming Integral Protein, 28kDa) Gene;

NCIt definition : Human AQP1 wild-type allele is located in the vicinity of 7p14.3 and is approximately 14 kb in length. This allele, which encodes aquaporin-1 protein, is involved in water homeostasis. Single nucleotide polymorphisms in this gene are associated with Colton blood group polymorphism and a missense mutation is associated with the Colton-null (aquaporin 1-null) phenotype.;

NCI Metathesaurus CUI : CL1663691;

GenBank Accession Number : M77829;

Details

Origin ID

C181092;

UMLS CUI

C5551158;

Automatic exact mappings (from CISMeF team)
- Aquaporin 1 [OMIM gene]
- Blood group, colton system [OMIM Phenotype]
OMIM relation
- Aquaporin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Proximal Tubule Bicarbonate Reclamation Pathway [NCIt concept]
gene_plays_role_in_process
- Homeostatic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients