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aquaporin-7; AQP-7; aquaporin adipose; AQPap (AQP7, AQP7L, AQP9)
Function:
- forms a channel for water & glycerol
Structure:
- aquaporins contain 2 tandem repeats each containing 3 membrane-spanning domains & a pore-forming loop with the signature motif Asn-Pro/Ala-Ala/Ser (NPA)
- belongs to the MIP/aquaporin (TC 1.A.8) family
Compartment: membrane
Alternative splicing: named isoforms=2
Expression: expressed predominantly in adipose tissue
Polymorphism:
- genetic variations in AQP7 are responsible for changes in glycerol release during exercise & define the glycerol quantitative trait locus (GLYCQTL)
Evolution:
- segmental duplication of chromosome 9 involving AQP7 is one of the few features distinguishing the human genome from the chimpanzee genome. [1,2] (see evolutionary divergent human protein)
Related
AQP7 (aquaporin 7) gene
General
aquaporin
evolutionary divergent human protein
transmembrane 6 protein
Properties
SIZE: entity length = 342 aa
MW = 37 kD
COMPARTMENT: plasma membrane
MOTIF: cytoplasmic domain {1-36}
transmembrane domain {37-57}
exoplasmic loop {58-65}
transmembrane domain {66-86}
cytoplasmic loop {87-113}
MOTIF: peptide motif {94-96}
transmembrane domain {114-134}
exoplasmic loop {135-170}
transmembrane domain {171-191}
cytoplasmic loop {192-196}
transmembrane domain {197-217}
exoplasmic loop {218-255}
MOTIF: peptide motif {226-228}
transmembrane domain {256-276}
cytoplasmic domain {277-342}
Database Correlations
OMIM correlations
UniProt O14520
Pfam PF00230
Entrez Gene 364
Kegg hsa:364
References
- OMIM :accession 602974
- Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L,
Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-
Fard A, Glueck D, McGavran L, Berry R, Pollack J, Sikela JM.
Lineage-specific gene duplication and loss in human and great
ape evolution.
PLoS Biol. 2004 Jul;2(7):E207. Epub 2004 Jul 13.
PMID: 15252450
- UniProt :accession O14520