E7EPB6 · E7EPB6_HUMAN
- ProteinCystic fibrosis transmembrane conductance regulator
- GeneCFTR
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1438 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Function
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. Possesses an intrinsic ATPase activity and utilizes ATP to gate its channel; the passive flow of anions through the channel is gated by cycles of ATP binding and hydrolysis by the ATP-binding domains. The ion channel is also permeable to HCO3-; 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.
Catalytic activity
- ATP + H2O = ADP + H+ + phosphateThis reaction proceeds in the forward direction.
- chloride(in) = chloride(out)
- hydrogencarbonate(in) = hydrogencarbonate(out)
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | apical plasma membrane | |
Cellular Component | chloride channel complex | |
Cellular Component | early endosome membrane | |
Cellular Component | endoplasmic reticulum membrane | |
Cellular Component | nucleus | |
Cellular Component | recycling endosome membrane | |
Molecular Function | ABC-type transporter activity | |
Molecular Function | ATP binding | |
Molecular Function | ATP hydrolysis activity | |
Molecular Function | bicarbonate transmembrane transporter activity | |
Molecular Function | intracellularly ATP-gated chloride channel activity | |
Molecular Function | isomerase activity |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCystic fibrosis transmembrane conductance regulator
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionE7EPB6
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Apical cell membrane ; Multi-pass membrane protein
Cell membrane ; Multi-pass membrane protein
Early endosome membrane ; Multi-pass membrane protein
Endoplasmic reticulum membrane ; Multi-pass membrane protein
Endosome membrane ; Multi-pass membrane protein
Membrane ; Multi-pass membrane protein
Recycling endosome membrane ; Multi-pass membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 119-143 | Helical | ||||
Sequence: IAIYLGIGLCLLFIVRTLLLHPAIF | ||||||
Transmembrane | 164-185 | Helical | ||||
Sequence: GLALAHFVWIAPLQVALLMGLI | ||||||
Transmembrane | 191-211 | Helical | ||||
Sequence: ASAFCGLGFLIVLALFQAGLG | ||||||
Transmembrane | 274-296 | Helical | ||||
Sequence: YFNSSAFFFSGFFVVFLSVLPYA | ||||||
Transmembrane | 829-853 | Helical | ||||
Sequence: LIFVLIWCLVIFLAEVAASLVVLWL | ||||||
Transmembrane | 873-897 | Helical | ||||
Sequence: YAVIITSTSSYYVFYIYVGVADTLL | ||||||
Transmembrane | 956-978 | Helical | ||||
Sequence: LLPLTIFDFIQLLLIVIGAIAVV | ||||||
Transmembrane | 984-1003 | Helical | ||||
Sequence: YIFVATVPVIVAFIMLRAYF | ||||||
Transmembrane | 1075-1093 | Helical | ||||
Sequence: MIFVIFFIAVTFISILTTG | ||||||
Transmembrane | 1099-1117 | Helical | ||||
Sequence: VGIILTLAMNIMSTLQWAV |
Keywords
- Cellular component
Disease & Variants
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 2,369 variants from UniProt as well as other sources including ClinVar and dbSNP.
Genetic variation databases
PTM/Processing
Features
Showing features for modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Modified residue (large scale data) | 630 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 670 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 707 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
Expression
Gene expression databases
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 86-293 | ABC transmembrane type-1 | ||||
Sequence: IFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVL | ||||||
Domain | 393-616 | ABC transporter | ||||
Sequence: NGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMG | ||||||
Domain | 830-1125 | ABC transmembrane type-1 | ||||
Sequence: IFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDS | ||||||
Domain | 1180-1413 | ABC transporter | ||||
Sequence: MTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISP |
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusFragment
- Length1,438
- Mass (Da)163,354
- Last updated2011-03-08 v1
- Checksum3AE202CB4F6E1F1E
Computationally mapped potential isoform sequences
There are 19 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
P13569 | CFTR_HUMAN | CFTR | 1480 | ||
C9J6L5 | C9J6L5_HUMAN | CFTR | 36 | ||
H0Y8A9 | H0Y8A9_HUMAN | CFTR | 190 | ||
M0QYZ3 | M0QYZ3_HUMAN | CFTR | 156 | ||
A0A8V8TPV6 | A0A8V8TPV6_HUMAN | CFTR | 1338 | ||
A0A8V8TQ89 | A0A8V8TQ89_HUMAN | CFTR | 536 | ||
A0A8V8TQ94 | A0A8V8TQ94_HUMAN | CFTR | 564 | ||
A0A8V8TNG7 | A0A8V8TNG7_HUMAN | CFTR | 478 | ||
A0A8V8TNH2 | A0A8V8TNH2_HUMAN | CFTR | 1478 | ||
A0A8V8TNN0 | A0A8V8TNN0_HUMAN | CFTR | 1428 | ||
A0A8V8TNN7 | A0A8V8TNN7_HUMAN | CFTR | 57 | ||
A0A3B3IT97 | A0A3B3IT97_HUMAN | CFTR | 58 | ||
A0A3B3ITE0 | A0A3B3ITE0_HUMAN | CFTR | 1196 | ||
A0A3B3ITW0 | A0A3B3ITW0_HUMAN | CFTR | 842 | ||
A0A3B3ITW5 | A0A3B3ITW5_HUMAN | CFTR | 1187 | ||
A0A8I5KVV2 | A0A8I5KVV2_HUMAN | CFTR | 1300 | ||
A0A8I5KVL1 | A0A8I5KVL1_HUMAN | CFTR | 1180 | ||
A0A8I5KXQ9 | A0A8I5KXQ9_HUMAN | CFTR | 280 | ||
A0A669KBE8 | A0A669KBE8_HUMAN | CFTR | 333 |
Features
Showing features for non-terminal residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Non-terminal residue | 1438 | |||||
Sequence: K |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AC000061 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC000111 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC002465 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC003045 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
KF458571 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
KF458574 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
KF458577 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. |