RBCC Red Blood Cell Collection

CFTR_HUMAN

Source: PM19886704
PM23856902
Marked as 'Integral membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: CFTR , ABCC7
Protein names and data: CFTR_HUMAN , Cystic fibrosis transmembrane conductance regulator; CFTR , ATP-binding cassette sub-family C member 7; Channel conductance-controlling ATPase; 3.6.3.49; cAMP-dependent chloride channel Lenght: 1480 a.a.
Mass: 168142 Da
fasta formatted sequence
Function: Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. Can inhibit the chloride channel activity of ANO1. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.
Catalytic activity: ATP + H(2)O = ADP + phosphate.
Disease: ( OMIM: 219700 277180 602421 ) Cystic fibrosis (CF) [MIM:219700]: A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry. Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]: Important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Early endosome membrane; Multi-pass membrane protein. Cell membrane.
Tissue specificity: Found on the surface of the epithelial cells that line the lungs and other organs.

Genetic variants

13 - 13 S -> F (in CF). VAR_000101
31 - 31 R -> C (in dbSNP:rs1800073). VAR_000102 1800073
31 - 31 R -> L (in CF). VAR_000103
42 - 42 S -> F (in CF). VAR_000104
44 - 44 D -> G (in CF). VAR_000105
44 - 44 D -> V (in dbSNP:rs1800074). VAR_000106 1800074
50 - 50 S -> Y (in CBAVD). VAR_000107
57 - 57 W -> G (in CF). VAR_000108
67 - 67 P -> L (in CF). VAR_000109
74 - 74 R -> W (in CF; dbSNP:rs115545701). VAR_000110 115545701
75 - 75 R -> Q (in dbSNP:rs1800076). VAR_000111 1800076
85 - 85 G -> E (in CF). VAR_000112
87 - 87 F -> L (in CF). VAR_000113
91 - 91 G -> R (in CF). VAR_000114
92 - 92 E -> K (in CF). VAR_000115
98 - 98 Q -> R (in CF). VAR_000116
105 - 105 I -> S (in CF). VAR_000117
109 - 109 Y -> C (in CF). VAR_000118
110 - 110 D -> H (in CF). VAR_000119
111 - 111 P -> L (in CBAVD). VAR_000120
117 - 117 R -> C (in CF). VAR_000121
117 - 117 R -> H (in CF and CBAVD). VAR_000122
117 - 117 R -> L (in CF). VAR_000123
117 - 117 R -> P (in CF). VAR_000124
120 - 120 A -> T (in CF). VAR_000125
138 - 138 L -> P (in dbSNP:rs1800078). VAR_009895 1800078
139 - 139 H -> R (in CF). VAR_000126
141 - 141 A -> D (in CF). VAR_000127
148 - 148 I -> T (in CF; dbSNP:rs35516286). VAR_000128 35516286
149 - 149 G -> R (in CBAVD). VAR_000129
170 - 170 R -> H (in dbSNP:rs1800079). VAR_009896 1800079
178 - 178 G -> R (in CF). VAR_000130
182 - 182 S -> G (in dbSNP:rs1800080). VAR_009897 1800080
192 - 192 Missing (in CF). VAR_000131
193 - 193 E -> K (in CBAVD and CF). VAR_000132
199 - 199 H -> Q (in CF). VAR_000133
199 - 199 H -> Y (in CF). VAR_000134
205 - 205 P -> S (in CF). VAR_000135
206 - 206 L -> W (in CF). VAR_000136
225 - 225 C -> R (in CF). VAR_000137
244 - 244 M -> K (in CBAVD). VAR_000138
258 - 258 R -> G (in CBAVD; dbSNP:rs191456345). VAR_000139 191456345
287 - 287 N -> Y (in CF). VAR_000140
297 - 297 R -> Q (in CF). VAR_000141
301 - 301 Y -> C (in CF; dbSNP:rs150691494). VAR_000142 150691494
307 - 307 S -> N (in CF). VAR_000143
311 - 311 F -> L (in CF). VAR_000144
311 - 311 Missing (in CF). VAR_000145
314 - 314 G -> E (in CF). VAR_000146
314 - 314 G -> R (in CF). VAR_000147
322 - 322 V -> M (in dbSNP:rs1800085). VAR_009898 1800085
334 - 334 R -> W (in CF; mild; dbSNP:rs121909011). VAR_000148 121909011
336 - 336 I -> K (in CF). VAR_000150
338 - 338 T -> I (in CF; mild; isolated hypotonic dehydration). VAR_000151
346 - 346 L -> P (in CF; dominant mutation but mild phenotype). VAR_000152
347 - 347 R -> H (in CF). VAR_000153
347 - 347 R -> L (in CF). VAR_000154
347 - 347 R -> P (in CF; MILD). VAR_000155
351 - 351 T -> S (in dbSNP:rs1800086). VAR_009899 1800086
352 - 352 R -> Q (in CF). VAR_000156
353 - 353 Q -> H (in dbSNP:rs1800087). VAR_009900 1800087
359 - 360 QT -> KK (in CF). VAR_000158
359 - 359 Q -> K (in CF). VAR_000157
370 - 370 K -> KNK (in CF). VAR_000159
455 - 455 A -> E (in CF). VAR_000160
456 - 456 V -> F (in CF). VAR_000161
458 - 458 G -> V (in CF). VAR_000162
467 - 467 L -> F (in dbSNP:rs1800089). VAR_000163 1800089
470 - 470 V -> M (in dbSNP:rs213950). VAR_000164 213950
480 - 480 G -> C (in CF). VAR_000165
492 - 492 S -> F (in CF). VAR_000166
504 - 504 E -> Q (in CF). VAR_000167
506 - 506 I -> M (in dbSNP:rs1800092). VAR_009901 1800092
506 - 506 I -> V. VAR_000168
507 - 507 I -> V (in dbSNP:rs1800091). VAR_000169 1800091
507 - 507 Missing (in CF). VAR_000170
508 - 508 F -> C (in dbSNP:rs1800093). VAR_000172 1800093
508 - 508 Missing (in CF and CBAVD; most common mutation; 72% of the population; CFTR fails to be properly delivered to plasma membrane). VAR_000171
513 - 513 D -> G (in CBAVD). VAR_000173
520 - 520 V -> F (in CF; dbSNP:rs77646904). VAR_000174 77646904
532 - 532 K -> E (in dbSNP:rs35032490). VAR_048150 35032490
544 - 544 G -> V (in CBAVD). VAR_000175
549 - 549 S -> I (in CF). VAR_000177
549 - 549 S -> N (in CF). VAR_000176
549 - 549 S -> R (in CF). VAR_000178
551 - 551 G -> D (in CF). VAR_000179
551 - 551 G -> S (in CF). VAR_000180
553 - 553 R -> Q (in CF). VAR_000181
558 - 558 L -> S (in CF). VAR_000182
559 - 559 A -> T (in CF). VAR_000183
560 - 560 R -> K (in CF). VAR_000184
560 - 560 R -> S (in CF). VAR_000185
560 - 560 R -> T (in CF). VAR_000186
562 - 562 V -> I (in dbSNP:rs1800097). VAR_000187 1800097
562 - 562 V -> L (in CF; dbSNP:rs1800097). VAR_000188 1800097
563 - 563 Y -> N (in CF). VAR_000189
569 - 569 Y -> C (in CF). VAR_000190
569 - 569 Y -> D (in CF). VAR_000191
569 - 569 Y -> H (in CF). VAR_000192
571 - 571 L -> S (in CF). VAR_000193
572 - 572 D -> N (in CF). VAR_000194
574 - 574 P -> H (in CF). VAR_000195
576 - 576 G -> A (in dbSNP:rs1800098). VAR_000196 1800098
579 - 579 D -> G (in CF). VAR_000197
601 - 601 I -> F (in CF). VAR_000198
605 - 605 S -> F (in dbSNP:rs766874). VAR_048151 766874
610 - 610 L -> S (in CF). VAR_000199
613 - 613 A -> T (in CF; dbSNP:rs201978662). VAR_000200 201978662
614 - 614 D -> G (in CF; dbSNP:rs201124247). VAR_000201 201124247
618 - 618 I -> T (in CF). VAR_000202
619 - 619 L -> S (in CF). VAR_000203
620 - 620 H -> P (in CF). VAR_000204
620 - 620 H -> Q (in CF). VAR_000205
622 - 622 G -> D (in oligospermia). VAR_000206
628 - 628 G -> R (in CF). VAR_000207
633 - 633 L -> P (in CF). VAR_000208
648 - 648 D -> V (in CF). VAR_000209
651 - 651 D -> N (in CF). VAR_000210
654 - 654 S -> G (in dbSNP:rs1800099). VAR_009902 1800099
665 - 665 T -> S (in CF). VAR_000211
668 - 668 R -> C (in dbSNP:rs1800100). VAR_000212 1800100
693 - 693 F -> L (in dbSNP:rs1800101). VAR_000213 1800101
754 - 754 V -> M (in CF; dbSNP:rs150157202). VAR_000214 150157202
766 - 766 R -> M (in CBAVD). VAR_000215
792 - 792 R -> G (in CBAVD). VAR_000216
800 - 800 A -> G (in CBAVD). VAR_000217
807 - 807 I -> M (in CBAVD; dbSNP:rs1800103). VAR_000218 1800103
822 - 822 E -> K (in CF). VAR_000219
826 - 826 E -> K (in thoracic sarcoidosis). VAR_000220
866 - 866 C -> Y (in CF). VAR_000221
903 - 903 Y -> H (in dbSNP:rs1800106). VAR_009903 1800106
909 - 909 S -> I (in dbSNP:rs1800107). VAR_009904 1800107
912 - 912 S -> L (in dbSNP:rs121909034). VAR_000222 121909034
913 - 913 Y -> C (in CF). VAR_000223
917 - 917 Y -> C (in CF). VAR_000224
949 - 949 H -> Y (in CF). VAR_000225
952 - 952 M -> I (in CF). VAR_000226
967 - 967 L -> S (in dbSNP:rs1800110). VAR_009905 1800110
997 - 997 L -> F (in CF; dbSNP:rs1800111). VAR_000227 1800111
1005 - 1005 I -> R (in CF). VAR_000228
1006 - 1006 A -> E (in CF). VAR_000229
1013 - 1013 P -> L (in CF). VAR_000230
1028 - 1028 M -> I (in CF). VAR_000231
1052 - 1052 F -> V (in CF). VAR_000232
1061 - 1061 G -> R (in CF; dbSNP:rs142394380). VAR_000233 142394380
1065 - 1065 L -> P (in CF). VAR_000234
1065 - 1065 L -> R (in CF). VAR_000235
1066 - 1066 R -> C (in CF). VAR_000236
1066 - 1066 R -> H (in CF). VAR_000237
1066 - 1066 R -> L (in CF). VAR_000238
1067 - 1067 A -> T (in CF). VAR_000239
1067 - 1067 A -> V (in dbSNP:rs1800114). VAR_000240 1800114
1070 - 1070 R -> P (in CF). VAR_000242
1070 - 1070 R -> Q (in CF). VAR_000241
1070 - 1070 R -> W (in CBAVD; dbSNP:rs202179988). VAR_011564 202179988
1071 - 1071 Q -> P (in CF). VAR_000243
1072 - 1072 P -> L (in CF). VAR_000244
1077 - 1077 L -> P (in CF). VAR_000245
1085 - 1085 H -> R (in CF). VAR_000246
1098 - 1098 W -> R (in CF). VAR_000247
1101 - 1101 M -> K (in CF; dbSNP:rs36210737). VAR_000248 36210737
1101 - 1101 M -> R (in CF). VAR_011565
1137 - 1137 M -> V (in CF). VAR_000249
1140 - 1140 Missing (in CF). VAR_000250
1152 - 1152 D -> H (in CF). VAR_000251
1162 - 1162 R -> L (in dbSNP:rs1800120). VAR_000252 1800120
1220 - 1220 T -> I (in dbSNP:rs1800123). VAR_000253 1800123
1234 - 1234 I -> V (in CF). VAR_000254
1235 - 1235 S -> R (in CF; dbSNP:rs34911792). VAR_000255 34911792
1244 - 1244 G -> E (in CF). VAR_000256
1249 - 1249 G -> E (in CF). VAR_000257
1251 - 1251 S -> N (in CF). VAR_000258
1255 - 1255 S -> P (in CF). VAR_000259
1270 - 1270 D -> N (in CF; dbSNP:rs11971167). VAR_000260 11971167
1282 - 1282 W -> R (in CF). VAR_000261
1283 - 1283 R -> M (in CF). VAR_000262
1286 - 1286 F -> S (in CF). VAR_000263
1291 - 1291 Q -> H (in CF). VAR_000264
1291 - 1291 Q -> R (in CF). VAR_000265
1303 - 1303 N -> H (in CF). VAR_000266
1303 - 1303 N -> K (in CF; dbSNP:rs80034486). VAR_000267 80034486
1349 - 1349 G -> D (in CF). VAR_000268
1364 - 1364 A -> V (in CBAVD). VAR_000269
1397 - 1397 V -> E (in CF). VAR_000270
1453 - 1453 R -> W (in dbSNP:rs4148725). VAR_048152 4148725

Database cross-references

UniProt: P13569
Ensembl: ENST00000003084
Ensembl: ENST00000454343
MIM: 219700
MIM: 277180
MIM: 602421
neXtProt: NX_P13569
Antibodypedia: P13569 (may not find the protein thus also not any antibody)
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