| 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
|
- 78-98
- 123-146
- 196-216
- 223-243
- 299-319
- 340-358
- 859-879
- 919-939
- 991-1011
- 1014-1034
- 1096-1116
- 1131-1151
|
| 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 |
