| Type |
Details |
Score |
| Publication |
| First Author: |
GemPharmatech |
| Year: |
2020 |
|
| Title: |
GemPharmatech Website. |
|
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•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
| Year: |
2008 |
| Journal: |
Database Download |
| Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Okazaki Y |
| Year: |
2002 |
| Journal: |
Nature |
| Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
| Volume: |
420 |
| Issue: |
6915 |
| Pages: |
563-73 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Gene Ontology Consortium |
| Year: |
2010 |
|
| Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
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|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Diez-Roux G |
| Year: |
2011 |
| Journal: |
PLoS Biol |
| Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
| Volume: |
9 |
| Issue: |
1 |
| Pages: |
e1000582 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
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|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
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•
•
•
•
•
|
| Publication |
| First Author: |
MGI Genome Annotation Group and UniGene Staff |
| Year: |
2015 |
| Journal: |
Database Download |
| Title: |
MGI-UniGene Interconnection Effort |
|
|
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|
•
•
•
•
•
|
| Publication |
| First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
| Year: |
2010 |
|
| Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
| Year: |
2000 |
| Journal: |
Database Release |
| Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Allen Institute for Brain Science |
| Year: |
2004 |
| Journal: |
Allen Institute |
| Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2009 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Group |
| Year: |
2003 |
| Journal: |
Database Procedure |
| Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bairoch A |
| Year: |
1999 |
| Journal: |
Database Release |
| Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics |
| Year: |
2010 |
| Journal: |
Database Release |
| Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2009 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
| Year: |
2011 |
|
| Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
UniProt-GOA |
| Year: |
2012 |
|
| Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
GOA curators |
| Year: |
2016 |
|
| Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
| Year: |
2004 |
| Journal: |
Database Release |
| Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
| Pathway |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Shin YH |
| Year: |
2016 |
| Journal: |
Biochem Biophys Res Commun |
| Title: |
Epigenetic regulation of CFTR in salivary gland. |
| Volume: |
481 |
| Issue: |
1-2 |
| Pages: |
31-37 |
|
•
•
•
•
•
|
| HT Experiment |
| Series Id: |
GSE75996 |
| Experiment Type: |
transcription profiling by array |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Nakanishi K |
| Year: |
2001 |
| Journal: |
J Am Soc Nephrol |
| Title: |
Role of CFTR in autosomal recessive polycystic kidney disease. |
| Volume: |
12 |
| Issue: |
4 |
| Pages: |
719-25 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Yang B |
| Year: |
2008 |
| Journal: |
J Am Soc Nephrol |
| Title: |
Small-molecule CFTR inhibitors slow cyst growth in polycystic kidney disease. |
| Volume: |
19 |
| Issue: |
7 |
| Pages: |
1300-10 |
|
•
•
•
•
•
|
| GO Term |
|
•
•
•
•
•
|
| HT Experiment |
| Series Id: |
GSE5715 |
| Experiment Type: |
transcription profiling by array |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wang YY |
| Year: |
2017 |
| Journal: |
PLoS Genet |
| Title: |
Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice. |
| Volume: |
13 |
| Issue: |
4 |
| Pages: |
e1006715 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Manavalan P |
| Year: |
1995 |
| Journal: |
FEBS Lett |
| Title: |
Sequence homologies between nucleotide binding regions of CFTR and G-proteins suggest structural and functional similarities. |
| Volume: |
366 |
| Issue: |
2-3 |
| Pages: |
87-91 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Prieto S |
| Year: |
2023 |
| Journal: |
EMBO Rep |
| Title: |
CDK8 and CDK19 act redundantly to control the CFTR pathway in the intestinal epithelium. |
| Volume: |
24 |
| Issue: |
2 |
| Pages: |
e54261 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Chow YH |
| Year: |
2000 |
| Journal: |
Mol Ther |
| Title: |
Targeting transgene expression to airway epithelia and submucosal glands, prominent sites of human CFTR expression. |
| Volume: |
2 |
| Issue: |
4 |
| Pages: |
359-67 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Rowntree RK |
| Year: |
2001 |
| Journal: |
Hum Mol Genet |
| Title: |
An element in intron 1 of the CFTR gene augments intestinal expression in vivo. |
| Volume: |
10 |
| Issue: |
14 |
| Pages: |
1455-64 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Hegedus T |
| Year: |
2009 |
| Journal: |
Biochim Biophys Acta |
| Title: |
Role of individual R domain phosphorylation sites in CFTR regulation by protein kinase A. |
| Volume: |
1788 |
| Issue: |
6 |
| Pages: |
1341-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kulhankova K |
| Year: |
2024 |
| Journal: |
Nucleic Acids Res |
| Title: |
Amphiphilic shuttle peptide delivers base editor ribonucleoprotein to correct the CFTR R553X mutation in well-differentiated airway epithelial cells. |
| Volume: |
52 |
| Issue: |
19 |
| Pages: |
11911-11925 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Haque A |
| Year: |
2010 |
| Journal: |
Nucleic Acids Res |
| Title: |
Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12. |
| Volume: |
38 |
| Issue: |
2 |
| Pages: |
647-59 |
|
•
•
•
•
•
|
| Interaction Experiment |
| Description: |
Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis. |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Yanda MK |
| Year: |
2018 |
| Journal: |
J Biol Chem |
| Title: |
A potential strategy for reducing cysts in autosomal dominant polycystic kidney disease with a CFTR corrector. |
| Volume: |
293 |
| Issue: |
29 |
| Pages: |
11513-11526 |
|
•
•
•
•
•
|
| Allele |
| Name: |
cystic fibrosis transmembrane conductance regulator; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
| Allele Type: |
Endonuclease-mediated |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Allele |
| Name: |
cystic fibrosis transmembrane conductance regulator; targeted mutation 1, Shanghai Model Organisms Center |
| Allele Type: |
Targeted |
| Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Shcheynikov N |
| Year: |
2008 |
| Journal: |
J Physiol |
| Title: |
The Slc26a4 transporter functions as an electroneutral Cl-/I-/HCO3- exchanger: role of Slc26a4 and Slc26a6 in I- and HCO3- secretion and in regulation of CFTR in the parotid duct. |
| Volume: |
586 |
| Issue: |
16 |
| Pages: |
3813-24 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Abdulrahman BA |
| Year: |
2013 |
| Journal: |
J Biol Chem |
| Title: |
Depletion of the ubiquitin-binding adaptor molecule SQSTM1/p62 from macrophages harboring cftr ΔF508 mutation improves the delivery of Burkholderia cenocepacia to the autophagic machinery. |
| Volume: |
288 |
| Issue: |
3 |
| Pages: |
2049-58 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kim Chiaw P |
| Year: |
2019 |
| Journal: |
PLoS One |
| Title: |
Hsp70 and DNAJA2 limit CFTR levels through degradation. |
| Volume: |
14 |
| Issue: |
8 |
| Pages: |
e0220984 |
|
•
•
•
•
•
|
| Allele |
| Name: |
cystic fibrosis transmembrane conductance regulator; targeted mutation 1, Kirk R Thomas |
| Allele Type: |
Targeted |
| Attribute String: |
Hypomorph |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Dean M |
| Year: |
2001 |
| Journal: |
Genome Res |
| Title: |
The human ATP-binding cassette (ABC) transporter superfamily. |
| Volume: |
11 |
| Issue: |
7 |
| Pages: |
1156-66 |
|
•
•
•
•
•
|
| CL Term |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
463
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| GO Term |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Thibodeau PH |
| Year: |
2005 |
| Journal: |
Nat Struct Mol Biol |
| Title: |
Side chain and backbone contributions of Phe508 to CFTR folding. |
| Volume: |
12 |
| Issue: |
1 |
| Pages: |
10-6 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1446
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Allele |
| Name: |
cystic fibrosis transmembrane conductance regulator; targeted mutation 1, Cyagen Biosciences |
| Allele Type: |
Targeted |
| Attribute String: |
Inserted expressed sequence, Null/knockout |
|
•
•
•
•
•
|
| Allele |
| Name: |
cystic fibrosis transmembrane conductance regulator; targeted mutation 1, University of North Carolina |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
205
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
600
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
576
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mendoza JL |
| Year: |
2012 |
| Journal: |
Cell |
| Title: |
Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences. |
| Volume: |
148 |
| Issue: |
1-2 |
| Pages: |
164-74 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wang X |
| Year: |
2006 |
| Journal: |
Cell |
| Title: |
Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis. |
| Volume: |
127 |
| Issue: |
4 |
| Pages: |
803-15 |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion 1, Michael J Welsh |
| Allele Type: |
Transgenic |
| Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, targeted mutation, mutant strain |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sharma S |
| Year: |
2019 |
| Journal: |
J Mol Histol |
| Title: |
Mapping the sites of localization of epithelial sodium channel (ENaC) and CFTR in segments of the mammalian epididymis. |
| Volume: |
50 |
| Issue: |
2 |
| Pages: |
141-154 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
transgenic, mutant stock |
|
•
•
•
•
•
|
| Ontology Term |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Rode B |
| Year: |
2012 |
| Journal: |
Hum Mol Genet |
| Title: |
The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation. |
| Volume: |
21 |
| Issue: |
6 |
| Pages: |
1287-98 |
|
•
•
•
•
•
|
| Allele |
| Name: |
cystic fibrosis transmembrane conductance regulator; endonuclease-mediated mutation 3, Case Western Reserve University |
| Allele Type: |
Endonuclease-mediated |
| Attribute String: |
Hypomorph |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Cftr/Cftr |
| Background: |
C57BL/6J-Cftr/Cwr |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| HT Experiment |
|
| Experiment Type: |
RNA-Seq |
| Study Type: |
WT vs. Mutant |
| Source: |
GEO |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion 6, University of North Carolina |
| Allele Type: |
Transgenic |
| Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
| Publication |
| First Author: |
He J |
| Year: |
2004 |
| Journal: |
J Biol Chem |
| Title: |
Interaction with cystic fibrosis transmembrane conductance regulator-associated ligand (CAL) inhibits beta1-adrenergic receptor surface expression. |
| Volume: |
279 |
| Issue: |
48 |
| Pages: |
50190-6 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
103
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
166
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Soncini C |
| Year: |
2001 |
| Journal: |
Oncogene |
| Title: |
Ras-GAP SH3 domain binding protein (G3BP) is a modulator of USP10, a novel human ubiquitin specific protease. |
| Volume: |
20 |
| Issue: |
29 |
| Pages: |
3869-79 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Yuan J |
| Year: |
2010 |
| Journal: |
Cell |
| Title: |
USP10 regulates p53 localization and stability by deubiquitinating p53. |
| Volume: |
140 |
| Issue: |
3 |
| Pages: |
384-96 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bomberger JM |
| Year: |
2009 |
| Journal: |
J Biol Chem |
| Title: |
The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells. |
| Volume: |
284 |
| Issue: |
28 |
| Pages: |
18778-89 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Cheng J |
| Year: |
2004 |
| Journal: |
J Biol Chem |
| Title: |
Modulation of mature cystic fibrosis transmembrane regulator protein by the PDZ domain protein CAL. |
| Volume: |
279 |
| Issue: |
3 |
| Pages: |
1892-8 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
Ubiquitin carboxyl-terminal hydrolase 10 (USP10) isa hydrolase that can remove conjugated ubiquitin from target proteins such as p53/TP53, BECN1, SNX3 and CFTR []. It regulates the localisation and stability of p53 by de-ubiquitinatiing p53 []. It is also implicated in vesicular transport and trafficking of membrane proteins []. |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
GOPC, also known as PIST or CAL, is primarily localized to the Golgi apparatus. It binds the G protein-coupled receptor beta1AR and modulates beta1AR intracellular trafficking []. GOPC also interacts with cystic fibrosis transmembrane regulator (CFTR), retains CFTR in the cell and targets it for degradation []. |
|
•
•
•
•
•
|
| Allele |
| Name: |
cystic fibrosis transmembrane conductance regulator; targeted mutation 1, University of Cambridge |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Touré A |
| Year: |
2007 |
| Journal: |
Hum Mol Genet |
| Title: |
The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse. |
| Volume: |
16 |
| Issue: |
15 |
| Pages: |
1783-93 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Toure A |
| Year: |
2001 |
| Journal: |
J Biol Chem |
| Title: |
Tat1, a novel sulfate transporter specifically expressed in human male germ cells and potentially linked to rhogtpase signaling. |
| Volume: |
276 |
| Issue: |
23 |
| Pages: |
20309-15 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
The testis anion transporter TAT1 (solute carrier family 26 member 8; SLC26A8) mediates chloride, sulfate and oxalate transport and is specifically expressed in male germ cells and mature sperms [, ]. It is essential for correct sperm tail differentiation and motility, and hence male fertility []. TAT1 and CFTR (cystic fibrosis transmembrane conductance regulator) seem to cooperate in the regulation of the Cl-/HCO3- fluxes required for motility and capacitation of sperm []. |
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| Publication |
| First Author: |
Pasyk S |
| Year: |
2015 |
| Journal: |
Proteomics |
| Title: |
The major cystic fibrosis causing mutation exhibits defective propensity for phosphorylation. |
| Volume: |
15 |
| Issue: |
2-3 |
| Pages: |
447-61 |
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| Protein Domain |
| Type: |
Family |
| Description: |
The ABC transporter family is a group of membrane proteins that use the hydrolysis of ATP to power the translocation of a wide variety of substrates across cellular membranes. ABC transporters minimally consist of two conserved regions: a highly conserved nucleotide-binding domain (NBD) and a less conserved transmembrane domain (TMD). Eukaryotic ABC proteins are usually organised either as full transporters (containing two NBDs and two TMDs), or as half transporters (containing one NBD and one TMD), that have to form homo- or heterodimers in order to constitute a functional protein [].Cystic fibrosis transmembrane conductance regulator (CFTR, also known as ABCC7) is an eukaryotic protein belonging to the ABC-C subfamily of the ABC transporter family. CFTR protein is a chloride ion channel controlled by phosphorylation. It has a major role in electrolyte and fluid secretion. CFTR is important in the determination of fluid flow, ion concentration and transepithelial salttransport. Dysfunction of the CFTR channel causes the life-threateningdisease, cystic fibrosis, in which trans-epithelial ion transport is disrupted []. Defective phosphorylation has been seen to be a cause for this altered activity []. |
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| Publication |
| First Author: |
Arora K |
| Year: |
2015 |
| Journal: |
Am J Pathol |
| Title: |
Altered cGMP dynamics at the plasma membrane contribute to diarrhea in ulcerative colitis. |
| Volume: |
185 |
| Issue: |
10 |
| Pages: |
2790-804 |
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| Genotype |
| Symbol: |
Cftr/Cftr |
| Background: |
involves: 129S/SvEv |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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| HT Experiment |
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| Experiment Type: |
RNA-Seq |
| Study Type: |
Baseline |
| Source: |
GEO |
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| Publication |
| First Author: |
Lohmann SM |
| Year: |
1997 |
| Journal: |
Trends Biochem Sci |
| Title: |
Distinct and specific functions of cGMP-dependent protein kinases. |
| Volume: |
22 |
| Issue: |
8 |
| Pages: |
307-12 |
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| Publication |
| First Author: |
Groen A |
| Year: |
2011 |
| Journal: |
Gastroenterology |
| Title: |
Complementary functions of the flippase ATP8B1 and the floppase ABCB4 in maintaining canalicular membrane integrity. |
| Volume: |
141 |
| Issue: |
5 |
| Pages: |
1927-37.e1-4 |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
103
 |
| Fragment?: |
true |
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| Publication |
| First Author: |
Bull LN |
| Year: |
1998 |
| Journal: |
Nat Genet |
| Title: |
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. |
| Volume: |
18 |
| Issue: |
3 |
| Pages: |
219-24 |
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| Publication |
| First Author: |
Verhulst PM |
| Year: |
2010 |
| Journal: |
Hepatology |
| Title: |
A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells. |
| Volume: |
51 |
| Issue: |
6 |
| Pages: |
2049-60 |
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| Publication |
| First Author: |
Paulusma CC |
| Year: |
2008 |
| Journal: |
Hepatology |
| Title: |
ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. |
| Volume: |
47 |
| Issue: |
1 |
| Pages: |
268-78 |
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| Protein Domain |
| Type: |
Family |
| Description: |
Phospholipid-transporting ATPase IC (also known as ATP8B1 or ATPIC) belongs to subfamily IV of the P-type ATPases family, whose members transport phospholipids across the membrane. ATP8B1 can bind either CDC50A or CDC50B as its accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity [, , ].In hepatocytes, ATP8B1 localises in the canalicular membrane, where it may maintain the membrane integrity and to the function of ABCB4, an ABC floppase that play a role in bile export []. In the epithelial Caco-2 cells, ATP8B1 is required for apical protein expression and microvillus formation in polarised epithelial cells []. Mutations in ATP8B1 cause two forms of intrahepatic cholestasis, progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BFIC) []. It is involved in the correct apical membrane localization of CDC42, CFTR and SLC10A2 []. |
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