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

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