A0A3B3ITW5 · A0A3B3ITW5_HUMAN
- ProteinCystic fibrosis transmembrane conductance regulator
- GeneCFTR
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1187 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
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
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | chloride channel complex | |
Cellular Component | plasma membrane | |
Molecular Function | ABC-type transporter activity | |
Molecular Function | ATP binding | |
Molecular Function | ATP hydrolysis activity | |
Molecular Function | intracellularly ATP-gated chloride channel 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 accessionA0A3B3ITW5
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Multi-pass membrane protein
Membrane ; Multi-pass membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 119-143 | Helical | ||||
Sequence: IAIYLGIGLCLLFIVRTLLLHPAIF | ||||||
Transmembrane | 195-215 | Helical | ||||
Sequence: LALAHFVWIAPLQVALLMGLI | ||||||
Transmembrane | 221-241 | Helical | ||||
Sequence: ASAFCGLGFLIVLALFQAGLG | ||||||
Transmembrane | 304-326 | Helical | ||||
Sequence: YFNSSAFFFSGFFVVFLSVLPYA | ||||||
Transmembrane | 798-822 | Helical | ||||
Sequence: LIFVLIWCLVIFLAEVAASLVVLWL | ||||||
Transmembrane | 842-866 | Helical | ||||
Sequence: YAVIITSTSSYYVFYIYVGVADTLL | ||||||
Transmembrane | 925-947 | Helical | ||||
Sequence: LLPLTIFDFIQLLLIVIGAIAVV | ||||||
Transmembrane | 953-972 | Helical | ||||
Sequence: YIFVATVPVIVAFIMLRAYF | ||||||
Transmembrane | 1044-1062 | Helical | ||||
Sequence: MIFVIFFIAVTFISILTTG |
Keywords
- Cellular component
Disease & Variants
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,983 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) | 599 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 639 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 676 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
Expression
Gene expression databases
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 86-323 | ABC transmembrane type-1 | ||||
Sequence: IFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVL | ||||||
Domain | 365-585 | ABC transporter | ||||
Sequence: LGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEETSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMG | ||||||
Domain | 799-1094 | ABC transmembrane type-1 | ||||
Sequence: IFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDS |
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length1,187
- Mass (Da)135,259
- Last updated2018-12-05 v1
- ChecksumC9999AF61F102789
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 | ||
E7EPB6 | E7EPB6_HUMAN | CFTR | 1438 | ||
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 | ||
A0A8I5KVV2 | A0A8I5KVV2_HUMAN | CFTR | 1300 | ||
A0A8I5KVL1 | A0A8I5KVL1_HUMAN | CFTR | 1180 | ||
A0A8I5KXQ9 | A0A8I5KXQ9_HUMAN | CFTR | 280 | ||
A0A669KBE8 | A0A669KBE8_HUMAN | CFTR | 333 |
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. |