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CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000492 Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006715842 PREDICTED: Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $2699.00 30

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Gene Symbol CFTR
Entrez Gene ID 1080
Full Name cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Synonyms ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1
General protein information
Preferred Names
cystic fibrosis transmembrane conductance regulator
Names
cystic fibrosis transmembrane conductance regulator
cAMP-dependent chloride channel
channel conductance-controlling ATPase
NP_000483.3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

7

7q31.2

Summary This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008].
Disorder

MIM: 602421

Cystic fibrosis, 219700 (3); Congenital bilateral absence of vas

mRNA Protein Product Sequence Price Select
NM_000492, 90421312 NP_000483, 90421313 cystic fibrosis transmembrane conductance regulator ORF Sequence $1500.00
XM_006715842, 578813888 XP_006715905, 578813889 cystic fibrosis transmembrane conductance regulator isoform X1 ORF Sequence $2500.00
KEGG
hsa02010ABC transporters
hsa05110Vibrio cholerae infection
hsa04971Gastric acid secretion
hsa04972Pancreatic secretion
hsa04976Bile secretion
hsa04152AMPK signaling pathway
Reactome
REACT_15518Transmembrane transport of small molecules
REACT_15480ABC-family proteins mediated transport
Homo sapiens (human)CFTRNP_000483.3
Pan troglodytes (chimpanzee)CFTRNP_001073386.1
Macaca mulatta (Rhesus monkey)CFTRNP_001028110.1
Canis lupus familiaris (dog)CFTRNP_001007144.1
Bos taurus (cattle)CFTRNP_776443.1
Mus musculus (house mouse)CftrNP_066388.1
Rattus norvegicus (Norway rat)CftrNP_113694.1
Gallus gallus (chicken)CFTRNP_001099136.1
Danio rerio (zebrafish)cftrNP_001038348.1
Xenopus (Silurana) tropicalis (western clawed frog)cftrXP_002935002.2
Process
IDNameEvidence
GO:0006200ATP catabolic processIEA
GO:0006695cholesterol biosynthetic processIEA
GO:0006810transportTAS
GO:0006833water transportIEA
GO:0007585respiratory gaseous exchangeTAS
GO:0015701bicarbonate transportIEA
GO:0015705iodide transportIEA
GO:0030301cholesterol transportIEA
GO:0030321transepithelial chloride transportIEA
GO:0030324lung developmentIEA
GO:0032870cellular response to hormone stimulusIEA
GO:0034097response to cytokineIEA
GO:0042311vasodilationIEA
GO:0042493response to drugIEA
GO:0043434response to peptide hormoneIEA
GO:0043627response to estrogenIEA
GO:0045909positive regulation of vasodilationIEA
GO:0048240sperm capacitationISS
GO:0051454intracellular pH elevationISS
GO:0055085transmembrane transportTAS
GO:0060081membrane hyperpolarizationISS
GO:0071320cellular response to cAMPISS
GO:1902476chloride transmembrane transportIDA
GO:1902476chloride transmembrane transportIEA
GO:1902476chloride transmembrane transportISS
GO:1902476chloride transmembrane transportNAS
GO:1902476chloride transmembrane transportTAS
GO:1902943positive regulation of voltage-gated chloride channel activityIDA
Component
IDNameEvidence
GO:0005769early endosomeIDA
GO:0005886plasma membraneIDA
GO:0005886plasma membraneTAS
GO:0005902microvillusIEA
GO:0009986cell surfaceIDA
GO:0016323basolateral plasma membraneNAS
GO:0016324apical plasma membraneIDA
GO:0030659cytoplasmic vesicle membraneIEA
GO:0031205endoplasmic reticulum Sec complexIDA
GO:0031901early endosome membraneIEA
GO:0034707chloride channel complexIEA
GO:0043234protein complexIDA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0005224ATP-binding and phosphorylation-dependent chloride channel activityTAS
GO:0005254chloride channel activityIDA
GO:0005260channel-conductance-controlling ATPase activityNAS
GO:0005515protein bindingIPI
GO:0005524ATP bindingIEA
GO:0015106bicarbonate transmembrane transporter activityISS
GO:0015108chloride transmembrane transporter activityISS
GO:0019869chloride channel inhibitor activityIDA
GO:0019899enzyme bindingIPI
GO:0030165PDZ domain bindingIDA
GeneCards CFTR
UniProt P13569
Vega OTTHUMG00000023076
MIM 602421
Ensembl ENSG00000001626
HGNC 1884
HPRD 03883

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the CFTR gene?

The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The channel transports negatively charged particles called chloride ions into and out of cells. The transport of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. Mucus is a slippery substance that lubricates and protects the lining of the airways, digestive system, reproductive system, and other organs and tissues.

The CFTR protein also regulates the function of other channels, such as those that transport positively charged particles called sodium ions across cell membranes. These channels are necessary for the normal function of organs such as the lungs and pancreas.

Interactant

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