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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
CF transmembrane conductance regulator
Summary
- Gene Symbol
-
- CFTR
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Alternative splicing
- Cell membrane
- Chloride channel
- Disease variant
- Endoplasmic reticulum
- Endosome
- Glycoprotein
- Isomerase
- Isopeptide bond
- Nucleus
- Palmitate
- Phosphoprotein
- Reference proteome
- Repeat
- Transmembrane helix
- Ubl conjugation
- Proteins
| UniProt | Protein Name |
|---|---|
| P13569 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| establishment of localization in cell | ||
| cholesterol biosynthetic process | ||
| cellular response to forskolin | ||
| multicellular organismal-level water homeostasis | ||
| cholesterol transport |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
homeostatic process [inference]
response to stimulus [inference]
localization [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of signaling [inference]
regulation of localization [inference]
regulation of transport [inference]
regulation of transmembrane transport [inference]
regulation of monoatomic ion transport [inference]
regulation of secretion [inference]
positive regulation of transport [inference]
regulation of cellular localization [inference]
positive regulation of biological process [inference]
regulation of cellular process [inference]
regulation of cell communication [inference]
regulation of transmembrane transport [inference]
positive regulation of cellular process [inference]
regulation of cellular localization [inference]
regulation of biological quality [inference]
regulation of molecular function [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| recycling endosome | ||
| Golgi-associated vesicle membrane | ||
| membrane | ||
| early endosome | ||
| protein-containing complex |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| ABC-type transporter activity | ||
| ATPase-coupled inorganic anion transmembrane transporter activity | ||
| enzyme binding | ||
| intracellularly ATP-gated chloride channel activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- ABC
- Functional Category
-
- J: Translation, ribosomal structure and biogenesis
- K: Transcription
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| ABC-type transporter activity |
| ATP binding |
| nucleotide binding |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050127 | sinusitis | |
| DOID:0060643 | primary sclerosing cholangitis | |
| DOID:0080526 | bronchiectasis 1 | |
| DOID:0110861 | autosomal recessive polycystic kidney disease | |
| DOID:0111862 | congenital bilateral absence of vas deferens | |
| DOID:0111864 | autosomal recessive congenital bilateral absence of vas deferens | |
| DOID:10211 | cholelithiasis | |
| DOID:10652 | Alzheimer's disease | |
| DOID:10808 | gastric ulcer | |
| DOID:11132 | prostatic hypertrophy |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 12638 | MGI:88388 | MOUSE49101 | ||
| 24255 | RGD:2332 | RATNO29396 | ||
| 178939 | WB:WBGene00000477 | |||
| 281067 | BOVIN27987 | |||
| 373725 | Xenbase:XB-GENE-866530 | |||
| 443347 | SHEEP15466 | |||
| 463674 | 9598_0:002322 | PANTR41247 | ||
| 492302 | CANLF03852 | |||
| 492308 | FELCA05668 | |||
| 492310 | TAKRU51325 |
