Gene: [14q321/PI1] protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin; alpha-1-antitrypsin deficiency, autosomal recessive; emphysema (liability?; chronic obstructive lung disease); hepatocellular carcinoma/cirrhosis (liability?); [PI AAT ]


HIS

In the course of studies on ataxia telangiectasia (GEM:14q/ATLS) and fine mapping of the distal break point in inversions and translocations of Chr 14q, associated with that disease, PI gene was demonstrated (Stern-1988) to be most likely located in segment 14q31. However, GDB, according to data on in situ hybridization by the nonisotope method (Bhatt-1988), indicates the localization as q32.1."

FAG

Serine proteinase inhibitors (serpins) are a large superfamily of proteins which bind to and inactivate serine proteinases. These interactions are involved in many cellular processes including coagulation, fibrinolysis, complement fixation, matrix remodeling, and apoptosis. The other members of the superfamily are: GEM:06p2/ELANH2(=PI2); GEM:20q1/PI3; GEM:14q3/PI4; GEM:18q213/PI5; GEM:06p2/PI6; GEM:02q3/PI7; GEM:00.0/PI8; GEM:06p25/PI9; GEM:00.0/PI10; GEM:18q213/SCCA2(=PI11); GEM:03q26/PI12; GEM:00.0/PI13; GEM:00.0/PI14; GEM:14q321/PIL; GEM:11q1/C1NH; GEM:18q221/PLGAI2; GEM:17p1/PLI."

REF

LOC,CYG,MOL,MET "Bhatt B &: NAR, 16, N9, 3951-3961, 1988
MOP,MUT,PAT "Carrell RW &: Nature, 298, (22 July), 329-334, 1982
POL,MOL,PAG "Cox, Billingsley: AJHG, 44, N6, 844-854, 1989
POL,MOL,PAG "Cox &: AJHG, 41, 891-906, 1987
POL,MOL,PAG "Cox &: Nature, 316, 79-81, 1985
LOC "Darlington GJ &: PNAS, 79, 870-873, 1982
CLO,SEQ,POL "Faber JP &: AJHG, 55, 1113-1121, 1994
MUT,MOL "Fraiser GC &: AJHG, 44, N6, 894-902, 1989
ENG,TER "Garver &: Science, 237, 762-764, 1987
CLO,SEQ,STR,EXP "Hafeez W &: J Clin Invest, 89, 1214-1222, 1992
PRO,SEQ "Kurachi &: PNAS, 78, N11, 6826-6830, 1981
PRO,GEN,FAG "Lai EC &: AJHG, 35, 385-392, 1983
PRO,EVO,GEN "Leicht &: Nature, 297, (24 June), 655-659, 1982
MAP "Pearson SJ &: Somat Cell Genet, 9, N5, 567-592, 1983
PRO,EXP "Rogers J &: BBRC, 116, N2, 375-382, 1983
LOC "Schroeder WT &: AJHG, 37, 868-872, 1985
LOC,HIS "Stern MH &: Hum Genet, 81, 18-22, 1988
LOC "Yamamoto Y &: Hum Genet, 74, 190-192, 1986

SWI

SWISSPROT: P01009

KEY

serp, mfd, pulm, git

CLA

coding, basic

LOC

14 q32.1

MIM

MIM: 107400

SYN

PI AAT

鸯铗痂蝈 蜞赕:

  • 嚯1-囗蜩蹊祛蝠栾耔
  • 离-1-囗蜩蝠栾耔磬 溴翳鲨. 羊痤屙桢 沐磬 PI.
  • Gene: [00.0/SCZD1] schizophrenia disorder 1;
  • Gene: [11q14/ELA3] elastase 3, neutrophil (medullasin, bone marrow serine protease);
  • Gene: [12p1/ELA1] elastase 1 (pancreatic);