Gene: [07p14/AQP1] aquaporin 1 (channel-forming integral protein, 28kD; CHIP28); Colton blood group polymorphism (MIM:110450); [CHIP28 CO ]
COM | The refinest location of AQP1 (Chr 7p14) was determined by Keen-1995. |
FUN | The aquaporin protein acts as a water selective, transmembrane channel and it was found to be related to the major intrinsic protein of lens fiber (GEM:12q13/MIP)." |
POL | Smith-1994 showed that Colton blood group antigen differences result from an Ala-Val polymorphism at residue 45." |
TIS | The aquaporin 1 expressed in a wide range of tissues and organs and especially abundant in the anterior segment of the eye (Nielson-1993)." |
REL | GEM:12q13/AQP2; GEM:09p13/AQP3; GEM:18q1/AQP4; GEM:12q13/AQP5; GEM:12q13/AQP6; GEM:00.0/AQP7; GEM:00.0/AQP7L; GEM:00.0/AQP8." |
REF | LOC,CYG "De La
Chapelle A &: Lancet, 2, N7939, 817, 1975 PRO,LOC "Deen PM &: CCG, 65, 243-246, 1994 PRO,LOC,LIN "Keen TJ &: Genomics, 25, 599-600, 1995 MOP,FUN,FAG,EVO "Knepper MA &: PNAS, 91, N14, 6255-6258, 1994 GEN,SEQ,LOC "Moon C &: JBC, 268, 15772-15778, 1993 TIS,EXP,FUN "Nielson S &: PNAS, 90, 7275-7279, 1993 COD,EVO "Preston GM, Agre P: PNAS, 88, 11110-11114, 1991 POL,MUT,PHE "Smith BL &: J Clin Invest, 94, 1043-1049, 1994 LOC,LIN,MOL "Zelinski T &: Genomics, 6, N4, 623-625, 1990 |
SWI | SWISSPROT: P29972 |
KEY | eye, mem, hem, blgr, ant |
CLA | coding, basic |
LOC | 07 p14 |
MIM | MIM: 107776 |
SYN | CHIP28 CO |
