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Peptide: P13569
OBJECT_TYPE: peptide
ID: CFTR_HUMAN
DESC:
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR)
DATA_CLASS: STANDARD
SPECIES: HOMO SAPIENS (HUMAN)
GENE NAME(S): CFTR
CLASSIFICATION:
[EUKARYOTA,METAZOA,CHORDATA,VERTEBRATA,TETRAPODA,MAMMALIA,EUTHERIA,PRIMATES]
FEATURES:
FEATURES:
TRANSMEM 81 103 1 (POTENTIAL).
TRANSMEM 118 138 2 (POTENTIAL).
TRANSMEM 195 215 3 (POTENTIAL).
TRANSMEM 221 241 4 (POTENTIAL).
TRANSMEM 308 328 5 (POTENTIAL).
TRANSMEM 331 350 6 (POTENTIAL).
NP_BIND 458 465 ATP (BY SIMILARITY).
TRANSMEM 860 880 7 (POTENTIAL).
TRANSMEM 912 932 8 (POTENTIAL).
TRANSMEM 991 1011 9 (POTENTIAL).
TRANSMEM 1014 1034 10 (POTENTIAL).
TRANSMEM 1103 1123 11 (POTENTIAL).
TRANSMEM 1129 1149 12 (POTENTIAL).
NP_BIND 1244 1251 ATP (BY SIMILARITY).
VARIANT 31 31 R -> C.
VARIANT 44 44 D -> G (IN CF).
VARIANT 44 44 D -> V.
VARIANT 75 75 R -> Q.
VARIANT 85 85 G -> E (IN CF).
VARIANT 87 87 F -> L (IN CF).
VARIANT 91 91 G -> R (IN CF).
VARIANT 92 92 E -> K (IN CF).
VARIANT 105 105 I -> S (IN CF).
VARIANT 109 109 Y -> C (IN CF).
VARIANT 110 110 D -> H (IN CF).
VARIANT 117 117 R -> C (IN CF).
VARIANT 117 117 R -> H (IN CF).
VARIANT 148 148 I -> T (IN CF).
VARIANT 178 178 G -> R (IN CF).
VARIANT 199 199 H -> Q (IN CF).
VARIANT 225 225 C -> R (IN CF).
VARIANT 297 297 R -> Q (IN CF).
VARIANT 310 310 MISSING (IN CF).
VARIANT 311 311 F -> L (IN CF).
VARIANT 314 314 G -> E (IN CF).
VARIANT 347 347 R -> H (IN CF).
VARIANT 347 347 R -> L (IN CF).
VARIANT 352 352 R -> Q (IN CF).
VARIANT 334 334 R -> W (IN CF).
VARIANT 347 347 R -> P (IN CF).
VARIANT 359 359 Q -> K (IN CF).
VARIANT 359 360 QT -> KK (IN CF).
VARIANT 455 455 A -> E (IN CF).
VARIANT 458 458 G -> V (IN CF).
VARIANT 467 467 L -> F.
VARIANT 470 470 M -> V.
VARIANT 480 480 G -> C (IN CF).
VARIANT 492 492 S -> F (IN CF).
VARIANT 504 504 E -> Q (IN CF).
VARIANT 506 506 I -> V.
VARIANT 507 507 I -> V.
VARIANT 507 507 MISSING (IN CF).
VARIANT 508 508 MISSING (IN CF; MOST COMMON MUTATION;
CFTR FAILS TO BE PROPERLY DELIVERED TO
THE PLASMA MEMBRANE).
VARIANT 508 508 F -> C.
VARIANT 520 520 V -> F (IN CF).
VARIANT 549 549 S -> N (IN CF).
VARIANT 549 549 S -> I (IN CF).
VARIANT 549 549 S -> R (IN CF).
VARIANT 551 551 G -> D (IN CF).
VARIANT 551 551 G -> S (IN CF).
VARIANT 553 553 R -> Q (IN CF).
VARIANT 558 558 L -> S (IN CF).
VARIANT 559 559 A -> T (IN CF).
VARIANT 560 560 R -> K (IN CF).
VARIANT 560 560 R -> T (IN CF).
VARIANT 562 562 V -> I.
VARIANT 563 563 Y -> N (IN CF).
VARIANT 574 574 P -> H (IN CF).
VARIANT 576 576 G -> A.
VARIANT 628 628 G -> R (IN CF).
VARIANT 648 648 D -> V (IN CF).
VARIANT 668 668 R -> C.
VARIANT 866 866 C -> Y (IN CF).
VARIANT 912 912 S -> L.
VARIANT 913 913 Y -> C (IN CF).
VARIANT 949 949 H -> Y (IN CF).
VARIANT 1052 1052 F -> V (IN CF).
VARIANT 1065 1065 L -> P (IN CF).
VARIANT 1066 1066 R -> C (IN CF).
VARIANT 1066 1066 R -> H (IN CF).
VARIANT 1066 1066 R -> L (IN CF).
VARIANT 1067 1067 A -> T (IN CF).
VARIANT 1067 1067 A -> V.
VARIANT 1070 1070 R -> E (IN CF).
VARIANT 1071 1071 Q -> P (IN CF).
VARIANT 1077 1077 L -> P (IN CF).
VARIANT 1085 1085 H -> R (IN CF).
VARIANT 1162 1162 R -> L.
VARIANT 1220 1220 T -> I.
VARIANT 1234 1234 I -> V (IN CF).
VARIANT 1244 1244 G -> E (IN CF).
VARIANT 1249 1249 G -> E (IN CF).
VARIANT 1251 1251 S -> N (IN CF).
VARIANT 1255 1255 S -> P (IN CF).
VARIANT 1270 1270 D -> N (IN CF).
VARIANT 1282 1282 W -> R (IN CF).
VARIANT 1283 1283 R -> M (IN CF).
VARIANT 1286 1286 F -> S (IN CF).
VARIANT 1291 1291 Q -> H (IN CF).
VARIANT 1303 1303 N -> H (IN CF).
VARIANT 1303 1303 N -> K (IN CF).
VARIANT 1349 1349 G -> D (IN CF).
CARBOHYD 894 894 POTENTIAL.
CARBOHYD 900 900 POTENTIAL.
MOD_RES 660 660 PHOSPHORYLATION (BY CAPK).
MOD_RES 686 686 PHOSPHORYLATION (BY PKC).
MOD_RES 700 700 PHOSPHORYLATION (BY CAPK).
MOD_RES 737 737 PHOSPHORYLATION (BY CAPK).
MOD_RES 768 768 PHOSPHORYLATION (BY CAPK).
MOD_RES 790 790 PHOSPHORYLATION (BY PKC).
MOD_RES 795 795 PHOSPHORYLATION (BY CAPK).
MOD_RES 813 813 PHOSPHORYLATION (BY CAPK).
MOL_WT: 168116
COMMENTS:
1. FUNCTION: INVOLVED IN THE TRANSPORT OF CHLORIDE IONS.
2. SUBCELLULAR LOCATION: INTEGRAL MEMBRANE PROTEIN.
3. DISEASE: DEFECTS IN CFTR ARE THE CAUSE OF CYSTIC FIBROSIS (CF). IT
IS THE MOST COMMON AUTOSOMAL RECESSIVE DISEASE, WITH A PREVALENCE
OF ABOUT 1 IN 2000 LIVE BIRTHS. THE DISEASE IS CHARACTERIZED BY
EXOCRINE PANCREATIC FAILURE (85% OF ALL PATIENTS) WHICH LEADS TO
MALABSORBTION AND GROWTH RETARDATION, RECCURENT PULMONARY
INFECTIONS, HIGH SWEAT-ELECTROLYTE CONCENTRATION AND REDUCED LIFE
EXPECTANCY.
4. SIMILARITY: BELONGS TO THE ATP-BINDING TRANSPORT PROTEIN FAMILY
(ABC TRANSPORTERS). BELONGS TO THE MDR SUBFAMILY.
DATES:
01-JAN-1990 (REL. 13, CREATED)
01-JAN-1990 (REL. 13, LAST SEQUENCE UPDATE)
01-FEB-1995 (REL. 31, LAST ANNOTATION UPDATE)
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