Protein Details: Cystic fibrosis transmembrane conductance regulator

Protein ID

ICDB_Pro_0343

Protein Name

Cystic fibrosis transmembrane conductance regulator

Gene Name

CFTR; ABCC7

Organism

Homo sapiens (Human)

Length

1480 amino acids

AlphaFoldDB

AF-P13569-F1-model_v4.pdb

Function

Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis . Mediates the transport of chloride ions across the cell membrane . Channel activity is coupled to ATP hydrolysis . The ion channel is also permeable to HCO(3)(-); selectivity depends on the extracellular chloride concentration . Exerts its function also by modulating the activity of other ion channels and transporters . Plays an important role in airway fluid homeostasis . Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens . Modulates the activity of the epithelial sodium channel (ENaC) complex; in part by regulating the cell surface expression of the ENaC complex . Inhibits the activity of the ENaC channel containing subunits SCNN1A; SCNN1B and SCNN1G . Inhibits the activity of the ENaC channel containing subunits SCNN1D; SCNN1B and SCNN1G; but not of the ENaC channel containing subunits SCNN1A; SCNN1B and SCNN1G . May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 . Can inhibit the chloride channel activity of ANO1 . Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation .

Sequence

MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL

PDB Structures

Ligand Binding

1. DICL_CP

2. DICL_Pep

Binding Site

BINDING 401; /ligand="ATP"; BINDING 434; /ligand="ATP"; BINDING 458..465; /ligand="ATP"; BINDING 493; /ligand="ATP"; BINDING 1219; /ligand="ATP"; BINDING 1244..1251; /ligand="ATP"

Disease

Cystic Fibrosis and Vas Deferens;Congenital Bilateral Aplasia Of

Location

Expressed in the respiratory airway; including bronchial epithelium; and in the female reproductive tract; including oviduct (at protein level) (PubMed:22207244; PubMed:15716351). Detected in pancreatic intercalated ducts in the exocrine tissue; on epithelial cells in intralobular striated ducts in sublingual salivary glands; on apical membranes of crypt cells throughout the small and large intestine; and on the reabsorptive duct in eccrine sweat glands (PubMed:1284548; PubMed:28130590). Detected on the equatorial segment of the sperm head (at protein level) (PubMed:19923167). Detected on the equatorial segment of the sperm head (at protein level) (PubMed:19923167). Detected on the equatorial segment of the sperm head (at protein level) (PubMed:19923167). Detected in nasal and bronchial superficial epithelium (PubMed:15716351). Expressed by the central cells on the sebaceous glands; dermal adipocytes and; at lower levels; by epithelial cells (PubMed:28130590).

DOI ID

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RefSeq

NP_000483.3 [P13569-1]