Gene: [01p3/EPB41] erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked; 80kD); elliptocytosis 1, hereditary (Rh linked; band 4.1 protein); [E41P HE EL1 ]


COM

[1] Tang-1991 localized the EL1 (EPB41) gene to 1p34.2-33. They used the in situ hybridization of a genomic probe (15 kb) with a fluorescent label and the counting of FLpter (fractional length of the total chromosome relative to the terminus of the short arm).
[2] A protein similar to the 4.1 has been found in brain, lens, and non-erythroid blood cells. This cerebral form is known as synapsin I (GEM:0Xp1123/SYN1)."

FUN

Erythrocyte membrane protein band 4.1 is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane."

REL

GEM:20q1/EPB41L1; GEM:15q15/EPB42; GEM:08p211/EPB49; GEM:09q341/EPB72.

REF

CLO,SEQ,GEN,LOC "Baklouti F &: Genomics, 39, N3, 289-302, 1997
MUT,MOL "Conboy JG &: J Clin Invest, 91, 77-82, 1993a
MOP,STR,FUN,MOL "Conboy JG: Semin Hematol, 30, 58-73, 1993b
PRO,TRL,PEP,MEB "Conboy JG &: PNAS, 85, 9062-9065, 1988
LOC,PRO "Conboy JG &: New Engl J Med, 315, 680-685, 1986a
PRO,SEQ,MOP "Conboy JG &: PNAS, 83, N24, 9512-9516, 1986b
CLO,PRO "Conboy JG &: Blood, 66 (suppl 1), 31A, 1985
LOC,LIN "Cook PJL &: Ann Hum Genet, 41, 157-162, 1977
PEP,SEQ,MOP "Correas I &: JBC, 261, 13362-13366, 1986
MUT,MOL "Dalla Venezia N &: J Clin Invest, 90, 1713-1717, 1992
FUN,PEP "Fairbanks G &: Biochemistry, 10, 2606-2617, 1971
PAT "Feo CJ &: Nouv Rev Franc Hematol, 22, 315-325, 1980
MUT "Garbarz M &: Hum Mut, 5, N4, 339-340, 1995
PAT "Garbarz M &: Blood, 64, 1006-1015, 1984
PAT "Lambert S, Zail S: Am J Hematol, 26, 263-272, 1987
PAT "Morle L &: Blood, 65, 1511-1517, 1985
LOC,LIN "Morton NE: AJHG, 8, 80-96, 1956
PAT "Takakuwa Y &: J Clin Invest, 78, 80-85, 1986
LOC,PRO "Tang CJC, Tang TK: CCG, 57, N2-3, 119, 1991
PRO,TRL,PEP,MEB "Tang TK &: PNAS, 85, 3713-3717, 1988a
EXP "Tang TK &: Clin Res, 36, A405, 1988b
PAT "Tomaselli MB &: PNAS, 78, 1911-1915, 1981

KEY

hem, mem, cysk

CLA

coding, basic

LOC

01 p36.2-34

MIM

MIM: 130500

SYN

E41P HE EL1

鸯铗痂蝈 蜞赕:

  • 蒺栩痤鲨蝾. 祟赅腓玎鲨 沐磬
  • 铃腩 镱腩覃 4.1