| General Information |
| MoonProt ID | 259 |
| First appeared in release | 1.0 |
| Name(s) | Cystic fibrosis transmembrane conductance regulator
CFTR
ATP-binding cassette sub-family C member 7
Channel conductance-controlling ATPase
cAMP-dependent chloride channel
Gene Name:CFTR |
| UniProt ID | P13569 (CFTR_HUMAN), Reviewed |
| GO terms | GO:0006200 ATP catabolic process
GO:0006695 cholesterol biosynthetic process
GO:0006810 transport
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0006833 water transport
GO:0007585 respiratory gaseous exchange
GO:0015701 bicarbonate transport
GO:0015705 iodide transport
GO:0030301 cholesterol transport
GO:0030321 transepithelial chloride transport
GO:0030324 lung development
GO:0032870 cellular response to hormone stimulus
GO:0034097 response to cytokine
GO:0042311 vasodilation
GO:0042493 response to drug
GO:0043434 response to peptide hormone
GO:0043627 response to estrogen
GO:0045909 positive regulation of vasodilation
GO:0048240 sperm capacitation
GO:0051454 intracellular pH elevation
GO:0055085 transmembrane transport
GO:0060081 membrane hyperpolarization
GO:0071320 cellular response to cAMP
GO:1902476 chloride transmembrane transport
GO:1902943 positive regulation of voltage-gated chloride channel activity
GO:0000166 nucleotide binding
GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity
GO:0005254 chloride channel activity
GO:0005260 channel-conductance-controlling ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0015106 bicarbonate transmembrane transporter activity
GO:0015108 chloride transmembrane transporter activity
GO:0016787 hydrolase activity
GO:0016887 ATPase activity
GO:0017111 nucleoside-triphosphatase activity
GO:0019869 chloride channel inhibitor activity
GO:0019899 enzyme binding
GO:0030165 PDZ domain binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031901 early endosome membrane
GO:0034707 chloride channel complex
GO:0043234 protein complex
colocalizes_with GO:0031205 endoplasmic reticulum Sec complex |
| Organisms for which functions have been demonstrated | Homo sapiens (human, a mammal,OMIM number 602421 Cystic Fibrosis) |
| Sequence length | 1480 |
| FASTA sequence | >sp|P13569|CFTR_HUMAN Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens GN=CFTR PE=1 SV=3
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL |
| Structure Information |
| PDB ID | 5UAK |
| Quaternary structure | |
| SCOP | |
| CATH | |
| TM Helix Prediction | 11(84-106,121-143,196-215,219-241,304-326,859-881,901-923,986-1008,1015-1034,1098-1120,1129-1148) |
| DisProt Annotation | 12.5%, 654-838 |
| Predicted Disorder Regions | 1-4, 387-431, 645-833, 895-901, 1173-1196, 1442-1480 |
| Connections to Disease |
| OMIM ID | |
| Function 1 |
| Function description | chloride transporter
ATP + H2O => ADP + phosphate
contains nucleotide binding domains that bind and hydrolyze ATP |
| References for function | |
| E.C. number | 3.6.3.49 |
| Location of functional site(s) | |
| Cellular location of function | plasma membrane, transmembrane protein |
| Comments | the gene that is mutated in patients with cystic fibrosis |
| Function 2 |
| Function description | regulator of other ion channels |
| References for function | Stutts MJ, Canessa CM, Olsen JC, Hamrick M, Cohn JA, Rossier BC, Boucher RC. CFTR as a cAMP-dependent regulator of sodium channels. Science. 1995 Aug 11;269(5225):847-50.
PMID: 7543698 |
| E.C. number | N/A |
| Location of functional site(s) | |
| Cellular location of function | plasma membrane, transmembrane protein |
| Comments | |