Showing Protein Cystic fibrosis transmembrane conductance regulator (BMDBP00138)
| Identification | |
|---|---|
| BMDB Protein ID | BMDBP00138 |
| Secondary Accession Numbers | None |
| Name | Cystic fibrosis transmembrane conductance regulator |
| Synonyms | Not Available |
| Gene Name | CFTR |
| Protein Type | Enzyme |
| Biological Properties | |
| General Function | Defense mechanisms |
| Specific 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 (By similarity). 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. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7. Can inhibit the chloride channel activity of ANO1 (By similarity). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (By similarity). |
| Pathways | Not Available |
| Reactions | Not Available |
| GO Classification | Not Available |
| Cellular Location | Not Available |
| Gene Properties | |
| Chromosome Location | 4 |
| Locus | 4q23-q25 |
| SNPs | CFTR |
| Gene Sequence |
>4446 bp ATGCAGAGGTCGCCTCTGGAAAAGGCCAGCGTCGTCTCCAAAGTTTTTTTCAGCTGGACC AGACCAATTTTGAAGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCATATC TCTTCTTCTGATTCTGCTGACAATCTATCTGAAAAATTGGAAAGAGAATGGGACAGAGAA CTGGCTTCAAAGAAAAATCCCAAACTCATAAATGCCCTTCGACGATGCTTTTTCTGGAGA TTTATGTTCTATGGAATCATATTATATTTAGGGGAAGTCACCAAAGCAGTCCAGCCTCTC TTACTGGGAAGAATCATAGCTTCCTATGACCCAGATAACAAGGTGGAACGCTCCATTGCC ATTTACTTAGGCATAGGCCTATGCCTTCTCTTTATCGTGAGGACACTGCTCCTGCACCCA GCCATTTTTGGTCTCCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATT TATAAGAAGACTTTGAAGCTATCAAGCCGTGTTCTGGATAAAATAAGTATTGGACGACTT GTTAGTCTCCTTTCCAACAACCTGAACAAATTTGATGAAGGACTCGCACTGGCACATTTT GTGTGGATCGCTCCTCTGCAAGTGACGCTGCTCATGGGGCTGCTCTGGGAGTTGTTGCAG GCCTTCACCTTCTGTGGGCTTGCTTTCCTCATAGTCCTCGCCCTTCTTCAAGCCGGATTA GGGAAAATGATGATGAAGTACAGAGATCAGAGAGCTGGAAAGATCAATGAAAGAGTGGTG ATAACGTCAGAAATGATTGAAAATATCCAATCAGTTAAGGCATACTGCTGGGAAGAAGCA ATGGAAAAAATCATTGAAAACCTAAGACAAACAGAACTGAAACTCACCCGGAAGGCAGCC TATGTGAGATACCTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTATTTTTA TCTGTGCTTCCTTATGCACTGCTCAAAGGAATCATCCTTCGAAAAATATTCACAACCATC TCATTCTGCATCGTTCTGCGCATGGCAGTTACTCGGCAGTTCCCCTGGGCTGTACAAACT TGGTATGATTCTCTGGGAGCAATAAACAAAATACAGGATTTCTTACAAAAGCAAGAATAT AAGACATTGGAATATAACTTAACAACTACAGATGTAGTGATGGATAATGTAACAGCCTTC TGGGAGGAGGGATTTAGTAAATTATTTGAGAAAGCAAAAGAAAATAATAACAATAGAAAA ATTTCCAATGGTGATAACAGCCTCTTCTTCAGTAACTTACTTCTTGGTACTCCTGTCCTG AAAGATATCAGTTTCAAGATAGAAAGAGGACAGTTGTTGGCAGTTGCTGGATCTACGGGA GCAGGCAAGACTTCACTTCTCTTGATGATTATGGGAGAATTGGAAGCTTCAGAGGGTAAA ATTAAGCACAGTGGAAGAATTTCATTCTGCTCTCAGTATTCCTGGATCATGCCTGGAACC ATTAAAGATAACATCATCTTTGGTGTTTCCTATGATGAATATAGATATAGAAGTGTCATC AAAGCATGCCAACTAGAAGAGGACATCTCCAAGTTTGCAGAGAAAGACAACGTAGTTCTC GGAGAAGGTGGAATCACACTGAGTGGAGGTCAGCGAGCGAGAATTTCTTTAGCAAGAGCA GTATACAAAGATGCTGATTTGTACCTATTAGACTCTCCTTTTGGATATCTAGATGTTTTA ACAGAGAAAGAAATATTTGAAAGCTGTATCTGTAAATTGATGGCTAACAAAACTAGGATT TTGGTCACTTCTAAAATGGAGCACTTAAAGAAAGCTGACAAAATATTAATTTTACATGAA GGTAGCATCTATTTTTATGGGACATTTTCTGAATTACAAAATCAGCGGCCCGACTTCAGC TCGAAGCTCATGGGATGTGACACTTTCGACCAGTTTACTGCAGAACGAAGAAATTCAATC ATAACTGAGACTTTACGGCGTTTCTCATTAGAAGGAGATACTTCTGTGTCCTGGAATGAA ACGAAAAAGCCTTCTTTTAAACAGACTGGAGAGTTTGGTGAAAAAAGGAAGAACTCCATT CTCAGTTCAATCAACTCTATAAGGAAATTTTCAGTTGTACAAAAGACTTCATTACAAATG AATGGTATTGAAGGAGCTGCTGATGCGCCTTTAGAGAGAAGACTATCCTTAGTTCCCCAT TCTGAACCTGGAGAGGGGATCCTGCCTCGGAGCAATGCAGTCAACAGTGGCCCCACATTT CTGGGAGGGAGGAGGCAGTCCGTTCTGAACCTTATGACCGGCTCCTCAGTGAACCAAGGT CAAAGCATTCATCGAAAGACAGCGACATCCACACGAAAAATGTCACTGGCTCCTCAGGCA AGCTTAGCCGAAATAGATATATATTCAAGACGGTTATCTCAAGATACTGGCTTGGAAATA AGTGAAGAAATTAATGAAGAAGATTTAAGGGATTGCTTTTTTGATGATGTGGAGAACATA CCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATG TTTGTGCTAATTTGGTGCTTAGTCGTTTTTCTGGTTGAGGTGGCCGCTTCTTTGGTTGTG TTGTGCCTATTTCCGAAAATATTTTTTCAAGACAAAGGAAACAGTACTAAGAGTGCAAAT AACAGTTATGCAGTGATCATCACCAGCACCAGCTCGTATTATATTTTTTACATTTATGTG GGAGTGGCTGACACTTTGCTTGCTCTAGGACTCTTCAGAGGTTTACCACTGGTGCATACT CTAATCACAGTGTCAAAAACTTTACACCACAAAATGCTACAGTCTGTTCTTCAAGCCCCT ATGTCAACCCTCAACACGTTGAAAACAGGTGGGATTCTTAATAGATTCTCCAAAGATATA GCAGTTTTGGATGATCTTCTGCCTCTTACCATATTTGATTTTGTTCAGTTGTTATTAATT GTGATCGGAGCTGTGGTGGTCGTCTCAGTTTTACAGCCCTACATCTTCCTAGCTACAGTG CCAGTGATAGCGGCTTTTATTCTCTTGAGAGCCTACTTCCTCCACACCTCCCAGCAACTC AAGCAGCTGGAATCTGAAGGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGTTTAAAA GGACTATGGACACTTCGTGCCTTGGACCGGCAGCCTTACTTTGAAACTTTATTCCACAAA GCTCTGAATTTACATACTGCCAACTGGTTCTTGTATCTGTCAACACTGCGCTGGTTCCAA ATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTA ACAACAGGTGAAGGAGAAGGAAGAGTTGGGATTATTCTAACTTTAGCCATGAATATCATG GGTACATTGCAGTGGGCTGTAAACTCTAGCATAGATGTGGATAGCTTGATGCGATCTGTG AGCCGAGTCTTTAAGTTTATTGATATGCCAACAGAAGATGGTAAACCTAACAATTCATTC AGACCATCCAAGGATAGTCAGCCCTCAAAAGTTATGATCATTGAGAATCAACATGTGAAG AAAGATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGACCTCACAGCAAAGTAT ACAGATGGAGGGAATGCCATACTAGAGAACATATCCTTCTCAATAAGCTCCGGCCAGAGG GTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGCACTTTGTTACTGGCTTTTTTGAGA CTGCTGAATACCAAAGGAGAAATCCAAATAGATGGTGTGTCTTGGGATTCAATTACTTTG CAACAATGGAGGAAGGCCTTTGGAGTCATACCACAGAAAGTATTCATCTTTTCTGGAACA TTTAGAAAAAACTTGGACCCCTATGGACAGTGGAGTGATCAAGAAATATGGAAAGTTGCA GATGAGGTCGGACTCAGAGCTGTGATAGAGCAGTTTCCTGGGAAGCTTGATTTTGTCCTT GTGGATGGGGGTTGTGTTCTAAGCCACGGCCACAAGCAGTTGATGTGCTTGGCCAGATCT GTTCTCAGTAAAGCAAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAATA ACATACCAGATCATTCGAAGAACCCTAAAACAAGCATTTGCTAATTGCACAGTAATCCTC TCTGAACACAGGATAGAAGCAATGTTGGAATGTCAACGATTTTTTGTCATAGAGGAGAAC AAGGTGCGGCAGTATGATTCCATCCAGAGGATGCTGAGCGAGAAGAGCCTCTTCCGGCAA GCCATCAGCCCCGCAGACCGCTTGAAGCTCTTGCCCCACCGGAACTCGAGCAGGCAGAGG TCTCGGTCCAACATCGCGGCTCTGAAGGAGGAGACAGAAGAAGAGGTGCAAGAAACAAAG CTTTAG |
| Protein Properties | |
| Number of Residues | 1481 |
| Molecular Weight | 167758.0 |
| Theoretical pI | 9.54 |
| Pfam Domain Function | Not Available |
| Signals |
|
| Transmembrane Regions |
|
| Protein Sequence |
>Cystic fibrosis transmembrane conductance regulator MQRSPLEKASVVSKLFFSWTRPILKKGYRQRLELSDIYHISSSDSADNLSEKLEREWDRE LASKKNPKLINALRRCFFWRFMFYGIILYLGEVTKAVQPLLLGRIIASYDPDNKVERSIA IYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQL VSLLSNNLNKFDEGLALAHFVWIAPLQVTLLMGLLWELLQAFTFCGLAFLIVLALLQAGL GKMMMKYRDQRAGKINERLVITSEMIENIQSVKAYCWEEAMEKIIENLRQTELKLTRKAA YVRYLNSSAFFFSGFFVVFLSVLPYALLKGIILRKIFTTISFCIVLRMAVTRQFPWAVQT WYDSLGAINKIQDFLQKQEYKTLEYNLTTTDVVMENVTAFWEEGFSKLFEKAKENNNSRK ISNGDNSLFFSNLLLGTPVLKDISFKIERGQLLAVAGSTGAGKTSLLMMIMGELEPSEGK IKHSGRISFCSQYSWIMPGTIKDNIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNVVL GEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCICKLMANKTRI LVTSKMEHLKKADKILILHEGSIYFYGTFSELQNQRPDFSSKLMGCDTFDQFTAERRNSI ITETLRRFSLEGDTSVSWNETKKPSFKQTGEFGEKRKNSILSSINSIRKFSVVQKTSLQM NGIEGAADAPLERRLSLVPHSEPGEGILPRSNAVNSGPTFLGGRRQSVLNLMTGSSVNQG QSIHRKTATSTRKMSLAPQASLAEIDIYSRRLSQDTGLEISEEINEEDLRDCFFDDVENI PAVTTWNTYLRYITVHKSLMFVLIWCLVVFLVEVAASLVVLCLFPKIFFQDKGNSTKSAN NSYAVIITSTSSYYIFYIYVGVADTLLALGLFRGLPLVHTLITVSKTLHHKMLQSVLQAP MSTLNTLKTGGILNRFSKDIAVLDDLLPLTIFDFVQLLLIVIGAVVVVSVLQPYIFLATV PVIAAFILLRAYFLHTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHK ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIM GTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEDGKPNNSFRPSKDSQPSKVMIIENQHVK KDDIWPSGGQMTVKDLTAKYTDGGNAILENISFSISPGQRVGLLGRTGSGKSTLLLAFLR LLNTKGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYGQWSDQEIWKVA DEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPI TYQIIRRTLKQAFANCTVILSEHRIEAMLECQRFLVIEENKVRQYDSIQRMLSEKSLFRQ AISPADRLKLLPHRNSSRQRSRSNIAALKEETEEEVQETKL |
| External Links | |
| GenBank ID Protein | AAA30772.1 |
| UniProtKB/Swiss-Prot ID | P35071 |
| UniProtKB/Swiss-Prot Entry Name | CFTR_BOVIN |
| PDB IDs | |
| GenBank Gene ID | M76128 |
| GeneCard ID | CFTR |
| GenAtlas ID | Not Available |
| HGNC ID | Not Available |
| References | |
| General References | Not Available |